Incidental Mutation 'IGL03187:Neb'
| ID | 412489 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Neb
|
|---|
| Ensembl Gene |
ENSMUSG00000026950 |
|---|
| Gene Name | nebulin |
|---|
| Synonyms | |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.784)
|
|---|
| Stock # | IGL03187
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 2 |
|---|
| Chromosomal Location | 52136647-52378474 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
G to A
at 52169088 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Histidine to Tyrosine
at position 213
(H213Y)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028320]
[ENSMUST00000036934]
[ENSMUST00000075301]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028320
AA Change: H2356Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000028320
Gene: ENSMUSG00000026950
AA Change: H2356Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
36 |
N/A |
INTRINSIC |
|
NEBU
|
103 |
134 |
9.67e-1 |
SMART |
|
NEBU
|
137 |
167 |
6.6e-7 |
SMART |
|
NEBU
|
172 |
202 |
9.7e-5 |
SMART |
|
NEBU
|
208 |
238 |
3.48e-6 |
SMART |
|
NEBU
|
246 |
276 |
2.66e-2 |
SMART |
|
NEBU
|
281 |
311 |
5.32e-2 |
SMART |
|
NEBU
|
312 |
342 |
2.94e-4 |
SMART |
|
NEBU
|
346 |
377 |
1.34e1 |
SMART |
|
NEBU
|
380 |
410 |
2.06e-8 |
SMART |
|
NEBU
|
415 |
445 |
1.67e-8 |
SMART |
|
NEBU
|
450 |
480 |
8.57e-6 |
SMART |
|
NEBU
|
487 |
518 |
8.47e0 |
SMART |
|
NEBU
|
523 |
553 |
5.2e-5 |
SMART |
|
NEBU
|
554 |
584 |
1.07e-6 |
SMART |
|
NEBU
|
589 |
619 |
9.55e-4 |
SMART |
|
NEBU
|
622 |
652 |
6.21e-3 |
SMART |
|
NEBU
|
657 |
686 |
4.89e-1 |
SMART |
|
NEBU
|
692 |
722 |
4.7e-3 |
SMART |
|
NEBU
|
730 |
760 |
1.16e-2 |
SMART |
|
NEBU
|
765 |
795 |
5.32e-2 |
SMART |
|
NEBU
|
796 |
826 |
3.62e-4 |
SMART |
|
NEBU
|
831 |
861 |
1.88e-2 |
SMART |
|
NEBU
|
866 |
896 |
1.59e-9 |
SMART |
|
NEBU
|
901 |
931 |
2.7e-3 |
SMART |
|
NEBU
|
937 |
967 |
4.93e0 |
SMART |
|
NEBU
|
975 |
1005 |
2.89e1 |
SMART |
|
NEBU
|
1010 |
1040 |
1.94e-4 |
SMART |
|
NEBU
|
1041 |
1071 |
3.2e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
3.71e-1 |
SMART |
|
NEBU
|
1111 |
1141 |
1.52e-6 |
SMART |
|
NEBU
|
1146 |
1176 |
4.56e-1 |
SMART |
|
NEBU
|
1182 |
1212 |
2.39e-4 |
SMART |
|
NEBU
|
1220 |
1250 |
1.59e1 |
SMART |
|
NEBU
|
1255 |
1285 |
4.32e-2 |
SMART |
|
NEBU
|
1286 |
1316 |
4.39e0 |
SMART |
|
NEBU
|
1321 |
1351 |
5.04e-3 |
SMART |
|
NEBU
|
1356 |
1386 |
8.78e-3 |
SMART |
|
NEBU
|
1392 |
1422 |
6.02e-1 |
SMART |
|
NEBU
|
1427 |
1457 |
5.24e-1 |
SMART |
|
NEBU
|
1463 |
1493 |
1.53e-2 |
SMART |
|
NEBU
|
1498 |
1528 |
1.94e-4 |
SMART |
|
NEBU
|
1533 |
1563 |
1.16e-2 |
SMART |
|
NEBU
|
1568 |
1598 |
2.51e1 |
SMART |
|
NEBU
|
1603 |
1633 |
2.81e-1 |
SMART |
|
NEBU
|
1638 |
1668 |
7.64e-3 |
SMART |
|
NEBU
|
1673 |
1703 |
5.62e-1 |
SMART |
|
NEBU
|
1708 |
1738 |
1.49e-5 |
SMART |
|
NEBU
|
1743 |
1773 |
3.97e-1 |
SMART |
|
NEBU
|
1778 |
1808 |
1.47e-4 |
SMART |
|
NEBU
|
1813 |
1843 |
6.45e-1 |
SMART |
|
NEBU
|
1848 |
1878 |
1.28e-4 |
SMART |
|
NEBU
|
1883 |
1913 |
9.33e-7 |
SMART |
|
NEBU
|
1918 |
1948 |
7.58e-7 |
SMART |
|
NEBU
|
1954 |
1984 |
1.94e-4 |
SMART |
|
NEBU
|
1989 |
2019 |
9.93e-2 |
SMART |
|
NEBU
|
2024 |
2054 |
2.45e-1 |
SMART |
|
NEBU
|
2059 |
2089 |
8.39e-1 |
SMART |
|
NEBU
|
2094 |
2124 |
1e-6 |
SMART |
|
NEBU
|
2131 |
2161 |
7.35e-5 |
SMART |
|
NEBU
|
2168 |
2198 |
1.37e-4 |
SMART |
|
NEBU
|
2202 |
2232 |
2.83e-6 |
SMART |
|
NEBU
|
2237 |
2267 |
1.52e-6 |
SMART |
|
NEBU
|
2274 |
2304 |
5.21e0 |
SMART |
|
NEBU
|
2309 |
2339 |
7.53e-2 |
SMART |
|
NEBU
|
2344 |
2374 |
2.5e-7 |
SMART |
|
NEBU
|
2377 |
2409 |
1.16e-2 |
SMART |
|
NEBU
|
2416 |
2446 |
1.47e-4 |
SMART |
|
NEBU
|
2453 |
2483 |
3.2e-5 |
SMART |
|
NEBU
|
2491 |
2521 |
8.07e-2 |
SMART |
|
NEBU
|
2526 |
2556 |
1.92e-8 |
SMART |
|
NEBU
|
2561 |
2591 |
1.08e-2 |
SMART |
|
NEBU
|
2596 |
2626 |
7.07e-7 |
SMART |
|
NEBU
|
2627 |
2657 |
2.39e-4 |
SMART |
|
NEBU
|
2658 |
2688 |
2.39e-4 |
SMART |
|
NEBU
|
2689 |
2719 |
5.97e-5 |
SMART |
|
NEBU
|
2720 |
2750 |
2.08e-4 |
SMART |
|
NEBU
|
2751 |
2781 |
1.02e-3 |
SMART |
|
NEBU
|
2787 |
2817 |
2.14e-6 |
SMART |
|
NEBU
|
2822 |
2852 |
1.66e0 |
SMART |
|
low complexity region
|
2902 |
2916 |
N/A |
INTRINSIC |
|
SH3
|
2988 |
3044 |
5.11e-14 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036934
AA Change: H6371Y
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000047763
Gene: ENSMUSG00000026950
AA Change: H6371Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
|
NEBU
|
71 |
102 |
3.88e-4 |
SMART |
|
NEBU
|
108 |
138 |
4e-6 |
SMART |
|
NEBU
|
143 |
173 |
2.3e-6 |
SMART |
|
NEBU
|
178 |
208 |
2.06e-8 |
SMART |
|
NEBU
|
213 |
243 |
1.58e-4 |
SMART |
|
NEBU
|
248 |
278 |
6.01e-10 |
SMART |
|
NEBU
|
284 |
313 |
1.14e-1 |
SMART |
|
NEBU
|
319 |
349 |
6.5e-6 |
SMART |
|
NEBU
|
358 |
388 |
4.39e-3 |
SMART |
|
NEBU
|
393 |
423 |
6.01e0 |
SMART |
|
NEBU
|
429 |
459 |
5.12e-4 |
SMART |
|
NEBU
|
497 |
527 |
5.74e-7 |
SMART |
|
NEBU
|
532 |
562 |
5.83e-8 |
SMART |
|
NEBU
|
568 |
598 |
7.69e-8 |
SMART |
|
NEBU
|
606 |
636 |
2.87e-7 |
SMART |
|
NEBU
|
676 |
706 |
3.1e-3 |
SMART |
|
NEBU
|
744 |
774 |
4.59e-6 |
SMART |
|
NEBU
|
779 |
809 |
9.47e-8 |
SMART |
|
NEBU
|
815 |
845 |
7.69e-8 |
SMART |
|
NEBU
|
853 |
883 |
1.17e-7 |
SMART |
|
NEBU
|
888 |
918 |
4.74e-8 |
SMART |
|
NEBU
|
919 |
949 |
9.47e-8 |
SMART |
|
NEBU
|
954 |
985 |
2.05e-3 |
SMART |
|
NEBU
|
988 |
1018 |
2.11e-5 |
SMART |
|
NEBU
|
1023 |
1053 |
8.7e-7 |
SMART |
|
NEBU
|
1059 |
1089 |
8.7e-7 |
SMART |
|
NEBU
|
1097 |
1127 |
8.25e-8 |
SMART |
|
NEBU
|
1132 |
1162 |
8e-6 |
SMART |
|
NEBU
|
1163 |
1193 |
3.79e-7 |
SMART |
|
NEBU
|
1199 |
1229 |
8.65e-2 |
SMART |
|
NEBU
|
1232 |
1262 |
1.05e-9 |
SMART |
|
NEBU
|
1267 |
1297 |
1.92e-8 |
SMART |
|
NEBU
|
1303 |
1333 |
7.35e-5 |
SMART |
|
NEBU
|
1341 |
1371 |
9.33e-7 |
SMART |
|
NEBU
|
1376 |
1406 |
1.18e-3 |
SMART |
|
NEBU
|
1407 |
1437 |
7.88e-5 |
SMART |
|
NEBU
|
1443 |
1473 |
1.33e-2 |
SMART |
|
NEBU
|
1476 |
1506 |
9.47e-8 |
SMART |
|
NEBU
|
1511 |
1541 |
7.18e-8 |
SMART |
|
NEBU
|
1547 |
1577 |
7.46e-6 |
SMART |
|
NEBU
|
1585 |
1615 |
1.07e-6 |
SMART |
|
NEBU
|
1620 |
1650 |
3.56e-3 |
SMART |
|
NEBU
|
1651 |
1681 |
9.33e-7 |
SMART |
|
NEBU
|
1687 |
1717 |
5.36e-7 |
SMART |
|
NEBU
|
1720 |
1750 |
1.4e-1 |
SMART |
|
NEBU
|
1755 |
1785 |
3.59e-8 |
SMART |
|
NEBU
|
1791 |
1821 |
8e-6 |
SMART |
|
NEBU
|
1829 |
1859 |
1.92e-8 |
SMART |
|
NEBU
|
1864 |
1894 |
1.61e-1 |
SMART |
|
NEBU
|
1895 |
1925 |
6.15e-7 |
SMART |
|
NEBU
|
1931 |
1961 |
2.02e-2 |
SMART |
|
NEBU
|
1964 |
1994 |
1.77e-7 |
SMART |
|
NEBU
|
1999 |
2029 |
1.02e-7 |
SMART |
|
NEBU
|
2035 |
2065 |
3.25e-6 |
SMART |
|
NEBU
|
2073 |
2103 |
1.18e-8 |
SMART |
|
NEBU
|
2108 |
2138 |
2.7e-3 |
SMART |
|
NEBU
|
2139 |
2169 |
4.85e-5 |
SMART |
|
NEBU
|
2175 |
2205 |
1.22e-1 |
SMART |
|
NEBU
|
2208 |
2238 |
2.94e-4 |
SMART |
|
NEBU
|
2243 |
2273 |
1.67e-8 |
SMART |
|
NEBU
|
2279 |
2309 |
5.12e-4 |
SMART |
|
NEBU
|
2317 |
2347 |
1.36e-8 |
SMART |
|
NEBU
|
2352 |
2382 |
4.85e-5 |
SMART |
|
NEBU
|
2383 |
2413 |
8.57e-6 |
SMART |
|
NEBU
|
2418 |
2448 |
1.24e-2 |
SMART |
|
NEBU
|
2451 |
2481 |
2.09e-9 |
SMART |
|
NEBU
|
2486 |
2516 |
4e-6 |
SMART |
|
NEBU
|
2522 |
2552 |
6.5e-6 |
SMART |
|
NEBU
|
2560 |
2590 |
4.06e-7 |
SMART |
|
NEBU
|
2595 |
2625 |
2.39e-4 |
SMART |
|
NEBU
|
2626 |
2656 |
3.43e-5 |
SMART |
|
NEBU
|
2661 |
2691 |
1.48e0 |
SMART |
|
NEBU
|
2694 |
2724 |
1.84e-5 |
SMART |
|
NEBU
|
2729 |
2759 |
3.53e-7 |
SMART |
|
NEBU
|
2765 |
2795 |
3.15e-4 |
SMART |
|
NEBU
|
2803 |
2833 |
1.23e-6 |
SMART |
|
NEBU
|
2838 |
2868 |
2.39e-4 |
SMART |
|
NEBU
|
2869 |
2899 |
5.97e-5 |
SMART |
|
NEBU
|
2904 |
2934 |
1.33e-2 |
SMART |
|
NEBU
|
2937 |
2967 |
1.21e-5 |
SMART |
|
NEBU
|
2972 |
3002 |
8.32e-4 |
SMART |
|
NEBU
|
3008 |
3038 |
1.04e-4 |
SMART |
|
NEBU
|
3046 |
3076 |
4.06e-7 |
SMART |
|
NEBU
|
3081 |
3111 |
3.73e-6 |
SMART |
|
NEBU
|
3112 |
3142 |
1.28e-4 |
SMART |
|
NEBU
|
3147 |
3177 |
3.76e-2 |
SMART |
|
NEBU
|
3180 |
3210 |
3.25e-6 |
SMART |
|
NEBU
|
3215 |
3245 |
5.97e-5 |
SMART |
|
NEBU
|
3251 |
3281 |
2.39e-4 |
SMART |
|
NEBU
|
3289 |
3319 |
3.3e-7 |
SMART |
|
NEBU
|
3324 |
3354 |
3.94e-5 |
SMART |
|
NEBU
|
3355 |
3385 |
1.28e-4 |
SMART |
|
NEBU
|
3390 |
3420 |
3.76e-2 |
SMART |
|
NEBU
|
3423 |
3453 |
3.25e-6 |
SMART |
|
NEBU
|
3458 |
3488 |
2.94e-4 |
SMART |
|
NEBU
|
3494 |
3524 |
1.84e-5 |
SMART |
|
NEBU
|
3532 |
3562 |
5.2e-5 |
SMART |
|
NEBU
|
3567 |
3597 |
3.53e-7 |
SMART |
|
NEBU
|
3598 |
3628 |
1.32e-6 |
SMART |
|
NEBU
|
3633 |
3663 |
2.32e-2 |
SMART |
|
NEBU
|
3666 |
3696 |
5.2e-5 |
SMART |
|
NEBU
|
3701 |
3731 |
1.15e-6 |
SMART |
|
NEBU
|
3737 |
3767 |
1.81e-4 |
SMART |
|
NEBU
|
3775 |
3805 |
4.06e-7 |
SMART |
|
NEBU
|
3810 |
3840 |
3.73e-6 |
SMART |
|
NEBU
|
3841 |
3871 |
1.97e-5 |
SMART |
|
NEBU
|
3876 |
3906 |
2.66e-2 |
SMART |
|
NEBU
|
3909 |
3939 |
8.12e-7 |
SMART |
|
NEBU
|
3944 |
3974 |
1.1e-8 |
SMART |
|
NEBU
|
3980 |
4010 |
2.99e-5 |
SMART |
|
NEBU
|
4018 |
4048 |
1.07e-6 |
SMART |
|
NEBU
|
4053 |
4083 |
3.94e-5 |
SMART |
|
NEBU
|
4084 |
4114 |
2.42e-5 |
SMART |
|
NEBU
|
4118 |
4149 |
2.66e-2 |
SMART |
|
NEBU
|
4152 |
4182 |
3.64e-9 |
SMART |
|
NEBU
|
4187 |
4217 |
1.44e-7 |
SMART |
|
NEBU
|
4223 |
4253 |
2.87e-7 |
SMART |
|
NEBU
|
4261 |
4291 |
2.83e-6 |
SMART |
|
NEBU
|
4296 |
4326 |
5.66e-6 |
SMART |
|
NEBU
|
4327 |
4357 |
6.06e-6 |
SMART |
|
NEBU
|
4361 |
4392 |
1.34e1 |
SMART |
|
NEBU
|
4395 |
4425 |
2.06e-8 |
SMART |
|
NEBU
|
4430 |
4460 |
1.67e-8 |
SMART |
|
NEBU
|
4465 |
4495 |
8.57e-6 |
SMART |
|
NEBU
|
4502 |
4533 |
8.47e0 |
SMART |
|
NEBU
|
4538 |
4568 |
5.2e-5 |
SMART |
|
NEBU
|
4569 |
4599 |
1.07e-6 |
SMART |
|
NEBU
|
4604 |
4634 |
9.55e-4 |
SMART |
|
NEBU
|
4637 |
4667 |
6.21e-3 |
SMART |
|
NEBU
|
4672 |
4701 |
4.89e-1 |
SMART |
|
NEBU
|
4707 |
4737 |
4.7e-3 |
SMART |
|
NEBU
|
4745 |
4775 |
1.16e-2 |
SMART |
|
NEBU
|
4780 |
4810 |
5.32e-2 |
SMART |
|
NEBU
|
4811 |
4841 |
3.62e-4 |
SMART |
|
NEBU
|
4846 |
4876 |
1.88e-2 |
SMART |
|
NEBU
|
4881 |
4911 |
1.59e-9 |
SMART |
|
NEBU
|
4916 |
4946 |
2.7e-3 |
SMART |
|
NEBU
|
4952 |
4982 |
4.93e0 |
SMART |
|
NEBU
|
4990 |
5020 |
2.89e1 |
SMART |
|
NEBU
|
5025 |
5055 |
1.94e-4 |
SMART |
|
NEBU
|
5056 |
5086 |
3.2e-5 |
SMART |
|
NEBU
|
5091 |
5121 |
3.71e-1 |
SMART |
|
NEBU
|
5126 |
5156 |
1.52e-6 |
SMART |
|
NEBU
|
5161 |
5191 |
4.56e-1 |
SMART |
|
NEBU
|
5197 |
5227 |
2.39e-4 |
SMART |
|
NEBU
|
5235 |
5265 |
1.59e1 |
SMART |
|
NEBU
|
5270 |
5300 |
4.32e-2 |
SMART |
|
NEBU
|
5301 |
5331 |
4.39e0 |
SMART |
|
NEBU
|
5336 |
5366 |
5.04e-3 |
SMART |
|
NEBU
|
5371 |
5401 |
8.78e-3 |
SMART |
|
NEBU
|
5407 |
5437 |
6.02e-1 |
SMART |
|
NEBU
|
5442 |
5472 |
5.24e-1 |
SMART |
|
NEBU
|
5478 |
5508 |
1.53e-2 |
SMART |
|
NEBU
|
5513 |
5543 |
1.94e-4 |
SMART |
|
NEBU
|
5548 |
5578 |
1.16e-2 |
SMART |
|
NEBU
|
5583 |
5613 |
2.51e1 |
SMART |
|
NEBU
|
5618 |
5648 |
2.81e-1 |
SMART |
|
NEBU
|
5653 |
5683 |
7.64e-3 |
SMART |
|
NEBU
|
5688 |
5718 |
5.62e-1 |
SMART |
|
NEBU
|
5723 |
5753 |
1.49e-5 |
SMART |
|
NEBU
|
5758 |
5788 |
3.97e-1 |
SMART |
|
NEBU
|
5793 |
5823 |
1.47e-4 |
SMART |
|
NEBU
|
5828 |
5858 |
6.45e-1 |
SMART |
|
NEBU
|
5863 |
5893 |
1.28e-4 |
SMART |
|
NEBU
|
5898 |
5928 |
9.33e-7 |
SMART |
|
NEBU
|
5933 |
5963 |
7.58e-7 |
SMART |
|
NEBU
|
5969 |
5999 |
1.94e-4 |
SMART |
|
NEBU
|
6004 |
6034 |
9.93e-2 |
SMART |
|
NEBU
|
6039 |
6069 |
2.45e-1 |
SMART |
|
NEBU
|
6074 |
6104 |
8.39e-1 |
SMART |
|
NEBU
|
6109 |
6139 |
1e-6 |
SMART |
|
NEBU
|
6146 |
6176 |
7.35e-5 |
SMART |
|
NEBU
|
6183 |
6213 |
1.37e-4 |
SMART |
|
NEBU
|
6217 |
6247 |
2.83e-6 |
SMART |
|
NEBU
|
6252 |
6282 |
1.52e-6 |
SMART |
|
NEBU
|
6289 |
6319 |
5.21e0 |
SMART |
|
NEBU
|
6324 |
6354 |
7.53e-2 |
SMART |
|
NEBU
|
6359 |
6389 |
2.5e-7 |
SMART |
|
NEBU
|
6392 |
6424 |
1.16e-2 |
SMART |
|
NEBU
|
6431 |
6461 |
1.47e-4 |
SMART |
|
NEBU
|
6468 |
6498 |
3.2e-5 |
SMART |
|
NEBU
|
6506 |
6536 |
8.07e-2 |
SMART |
|
NEBU
|
6541 |
6571 |
1.92e-8 |
SMART |
|
NEBU
|
6576 |
6606 |
1.08e-2 |
SMART |
|
NEBU
|
6611 |
6641 |
7.07e-7 |
SMART |
|
NEBU
|
6642 |
6672 |
2.39e-4 |
SMART |
|
NEBU
|
6673 |
6703 |
2.39e-4 |
SMART |
|
NEBU
|
6704 |
6734 |
5.97e-5 |
SMART |
|
NEBU
|
6735 |
6765 |
4.46e-4 |
SMART |
|
NEBU
|
6766 |
6796 |
2.18e-7 |
SMART |
|
NEBU
|
6797 |
6827 |
2.64e-6 |
SMART |
|
NEBU
|
6828 |
6858 |
6.96e-6 |
SMART |
|
NEBU
|
6859 |
6889 |
6.3e-4 |
SMART |
|
NEBU
|
6895 |
6925 |
2.14e-6 |
SMART |
|
NEBU
|
6930 |
6960 |
1.66e0 |
SMART |
|
low complexity region
|
7010 |
7024 |
N/A |
INTRINSIC |
|
SH3
|
7096 |
7152 |
5.11e-14 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075301
AA Change: H6128Y
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000074773
Gene: ENSMUSG00000026950
AA Change: H6128Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
|
NEBU
|
71 |
102 |
3.88e-4 |
SMART |
|
NEBU
|
108 |
138 |
4e-6 |
SMART |
|
NEBU
|
143 |
173 |
2.3e-6 |
SMART |
|
NEBU
|
178 |
208 |
2.06e-8 |
SMART |
|
NEBU
|
213 |
243 |
1.58e-4 |
SMART |
|
NEBU
|
248 |
278 |
6.01e-10 |
SMART |
|
NEBU
|
284 |
313 |
1.14e-1 |
SMART |
|
NEBU
|
319 |
349 |
6.5e-6 |
SMART |
|
NEBU
|
358 |
388 |
4.39e-3 |
SMART |
|
NEBU
|
393 |
423 |
6.01e0 |
SMART |
|
NEBU
|
429 |
459 |
5.12e-4 |
SMART |
|
NEBU
|
497 |
527 |
5.74e-7 |
SMART |
|
NEBU
|
532 |
562 |
5.83e-8 |
SMART |
|
NEBU
|
568 |
598 |
7.69e-8 |
SMART |
|
NEBU
|
606 |
636 |
2.87e-7 |
SMART |
|
NEBU
|
676 |
706 |
3.1e-3 |
SMART |
|
NEBU
|
744 |
774 |
4.59e-6 |
SMART |
|
NEBU
|
779 |
809 |
9.47e-8 |
SMART |
|
NEBU
|
815 |
845 |
7.69e-8 |
SMART |
|
NEBU
|
853 |
883 |
1.17e-7 |
SMART |
|
NEBU
|
888 |
918 |
4.74e-8 |
SMART |
|
NEBU
|
919 |
949 |
9.47e-8 |
SMART |
|
NEBU
|
954 |
985 |
2.05e-3 |
SMART |
|
NEBU
|
988 |
1018 |
2.11e-5 |
SMART |
|
NEBU
|
1023 |
1053 |
8.7e-7 |
SMART |
|
NEBU
|
1059 |
1089 |
8.7e-7 |
SMART |
|
NEBU
|
1097 |
1127 |
8.25e-8 |
SMART |
|
NEBU
|
1132 |
1162 |
8e-6 |
SMART |
|
NEBU
|
1163 |
1193 |
3.79e-7 |
SMART |
|
NEBU
|
1199 |
1229 |
8.65e-2 |
SMART |
|
NEBU
|
1232 |
1262 |
1.05e-9 |
SMART |
|
NEBU
|
1267 |
1297 |
1.92e-8 |
SMART |
|
NEBU
|
1303 |
1333 |
7.35e-5 |
SMART |
|
NEBU
|
1341 |
1371 |
9.33e-7 |
SMART |
|
NEBU
|
1376 |
1406 |
1.18e-3 |
SMART |
|
NEBU
|
1407 |
1437 |
7.88e-5 |
SMART |
|
NEBU
|
1443 |
1473 |
1.33e-2 |
SMART |
|
NEBU
|
1476 |
1506 |
9.47e-8 |
SMART |
|
NEBU
|
1511 |
1541 |
7.18e-8 |
SMART |
|
NEBU
|
1547 |
1577 |
7.46e-6 |
SMART |
|
NEBU
|
1585 |
1615 |
1.07e-6 |
SMART |
|
NEBU
|
1620 |
1650 |
3.56e-3 |
SMART |
|
NEBU
|
1651 |
1681 |
9.33e-7 |
SMART |
|
NEBU
|
1687 |
1717 |
5.36e-7 |
SMART |
|
NEBU
|
1720 |
1750 |
1.4e-1 |
SMART |
|
NEBU
|
1755 |
1785 |
3.59e-8 |
SMART |
|
NEBU
|
1791 |
1821 |
8e-6 |
SMART |
|
NEBU
|
1829 |
1859 |
1.92e-8 |
SMART |
|
NEBU
|
1864 |
1894 |
1.61e-1 |
SMART |
|
NEBU
|
1895 |
1925 |
6.15e-7 |
SMART |
|
NEBU
|
1931 |
1961 |
2.02e-2 |
SMART |
|
NEBU
|
1964 |
1994 |
1.77e-7 |
SMART |
|
NEBU
|
1999 |
2029 |
1.02e-7 |
SMART |
|
NEBU
|
2035 |
2065 |
3.25e-6 |
SMART |
|
NEBU
|
2073 |
2103 |
1.18e-8 |
SMART |
|
NEBU
|
2108 |
2138 |
2.7e-3 |
SMART |
|
NEBU
|
2139 |
2169 |
4.85e-5 |
SMART |
|
NEBU
|
2175 |
2205 |
1.22e-1 |
SMART |
|
NEBU
|
2208 |
2238 |
2.94e-4 |
SMART |
|
NEBU
|
2243 |
2273 |
1.67e-8 |
SMART |
|
NEBU
|
2279 |
2309 |
5.12e-4 |
SMART |
|
NEBU
|
2317 |
2347 |
1.36e-8 |
SMART |
|
NEBU
|
2352 |
2382 |
4.85e-5 |
SMART |
|
NEBU
|
2383 |
2413 |
8.57e-6 |
SMART |
|
NEBU
|
2418 |
2448 |
1.24e-2 |
SMART |
|
NEBU
|
2451 |
2481 |
2.09e-9 |
SMART |
|
NEBU
|
2486 |
2516 |
4e-6 |
SMART |
|
NEBU
|
2522 |
2552 |
6.5e-6 |
SMART |
|
NEBU
|
2560 |
2590 |
4.06e-7 |
SMART |
|
NEBU
|
2595 |
2625 |
2.39e-4 |
SMART |
|
NEBU
|
2626 |
2656 |
3.43e-5 |
SMART |
|
NEBU
|
2661 |
2691 |
1.48e0 |
SMART |
|
NEBU
|
2694 |
2724 |
1.84e-5 |
SMART |
|
NEBU
|
2729 |
2759 |
3.53e-7 |
SMART |
|
NEBU
|
2765 |
2795 |
3.15e-4 |
SMART |
|
NEBU
|
2803 |
2833 |
1.23e-6 |
SMART |
|
NEBU
|
2838 |
2868 |
2.39e-4 |
SMART |
|
NEBU
|
2869 |
2899 |
5.97e-5 |
SMART |
|
NEBU
|
2904 |
2934 |
1.33e-2 |
SMART |
|
NEBU
|
2937 |
2967 |
1.21e-5 |
SMART |
|
NEBU
|
2972 |
3002 |
8.32e-4 |
SMART |
|
NEBU
|
3008 |
3038 |
1.04e-4 |
SMART |
|
NEBU
|
3046 |
3076 |
4.06e-7 |
SMART |
|
NEBU
|
3081 |
3111 |
3.73e-6 |
SMART |
|
NEBU
|
3112 |
3142 |
1.28e-4 |
SMART |
|
NEBU
|
3147 |
3177 |
3.76e-2 |
SMART |
|
NEBU
|
3180 |
3210 |
3.25e-6 |
SMART |
|
NEBU
|
3215 |
3245 |
5.97e-5 |
SMART |
|
NEBU
|
3251 |
3281 |
2.39e-4 |
SMART |
|
NEBU
|
3289 |
3319 |
3.3e-7 |
SMART |
|
NEBU
|
3324 |
3354 |
3.94e-5 |
SMART |
|
NEBU
|
3355 |
3385 |
1.28e-4 |
SMART |
|
NEBU
|
3390 |
3420 |
3.76e-2 |
SMART |
|
NEBU
|
3423 |
3453 |
3.25e-6 |
SMART |
|
NEBU
|
3458 |
3488 |
2.94e-4 |
SMART |
|
NEBU
|
3494 |
3524 |
1.84e-5 |
SMART |
|
NEBU
|
3532 |
3562 |
5.2e-5 |
SMART |
|
NEBU
|
3567 |
3597 |
3.53e-7 |
SMART |
|
NEBU
|
3598 |
3628 |
1.32e-6 |
SMART |
|
NEBU
|
3633 |
3663 |
2.32e-2 |
SMART |
|
NEBU
|
3666 |
3696 |
5.2e-5 |
SMART |
|
NEBU
|
3701 |
3731 |
1.15e-6 |
SMART |
|
NEBU
|
3737 |
3767 |
1.81e-4 |
SMART |
|
NEBU
|
3775 |
3805 |
4.06e-7 |
SMART |
|
NEBU
|
3810 |
3840 |
3.73e-6 |
SMART |
|
NEBU
|
3841 |
3871 |
1.97e-5 |
SMART |
|
NEBU
|
3876 |
3906 |
2.66e-2 |
SMART |
|
NEBU
|
3909 |
3939 |
8.12e-7 |
SMART |
|
NEBU
|
3944 |
3974 |
1.1e-8 |
SMART |
|
NEBU
|
3980 |
4010 |
2.99e-5 |
SMART |
|
NEBU
|
4018 |
4048 |
1.07e-6 |
SMART |
|
NEBU
|
4053 |
4083 |
3.94e-5 |
SMART |
|
NEBU
|
4084 |
4114 |
2.83e-6 |
SMART |
|
NEBU
|
4118 |
4149 |
1.34e1 |
SMART |
|
NEBU
|
4152 |
4182 |
2.06e-8 |
SMART |
|
NEBU
|
4187 |
4217 |
1.67e-8 |
SMART |
|
NEBU
|
4222 |
4252 |
8.57e-6 |
SMART |
|
NEBU
|
4259 |
4290 |
8.47e0 |
SMART |
|
NEBU
|
4295 |
4325 |
5.2e-5 |
SMART |
|
NEBU
|
4326 |
4356 |
1.07e-6 |
SMART |
|
NEBU
|
4361 |
4391 |
9.55e-4 |
SMART |
|
NEBU
|
4394 |
4424 |
6.21e-3 |
SMART |
|
NEBU
|
4429 |
4458 |
4.89e-1 |
SMART |
|
NEBU
|
4464 |
4494 |
4.7e-3 |
SMART |
|
NEBU
|
4502 |
4532 |
1.16e-2 |
SMART |
|
NEBU
|
4537 |
4567 |
5.32e-2 |
SMART |
|
NEBU
|
4568 |
4598 |
3.62e-4 |
SMART |
|
NEBU
|
4603 |
4633 |
1.88e-2 |
SMART |
|
NEBU
|
4638 |
4668 |
1.59e-9 |
SMART |
|
NEBU
|
4673 |
4703 |
2.7e-3 |
SMART |
|
NEBU
|
4709 |
4739 |
4.93e0 |
SMART |
|
NEBU
|
4747 |
4777 |
2.89e1 |
SMART |
|
NEBU
|
4782 |
4812 |
1.94e-4 |
SMART |
|
NEBU
|
4813 |
4843 |
3.2e-5 |
SMART |
|
NEBU
|
4848 |
4878 |
3.71e-1 |
SMART |
|
NEBU
|
4883 |
4913 |
1.52e-6 |
SMART |
|
NEBU
|
4918 |
4948 |
4.56e-1 |
SMART |
|
NEBU
|
4954 |
4984 |
2.39e-4 |
SMART |
|
NEBU
|
4992 |
5022 |
1.59e1 |
SMART |
|
NEBU
|
5027 |
5057 |
4.32e-2 |
SMART |
|
NEBU
|
5058 |
5088 |
4.39e0 |
SMART |
|
NEBU
|
5093 |
5123 |
5.04e-3 |
SMART |
|
NEBU
|
5128 |
5158 |
8.78e-3 |
SMART |
|
NEBU
|
5164 |
5194 |
6.02e-1 |
SMART |
|
NEBU
|
5199 |
5229 |
5.24e-1 |
SMART |
|
NEBU
|
5235 |
5265 |
1.53e-2 |
SMART |
|
NEBU
|
5270 |
5300 |
1.94e-4 |
SMART |
|
NEBU
|
5305 |
5335 |
1.16e-2 |
SMART |
|
NEBU
|
5340 |
5370 |
2.51e1 |
SMART |
|
NEBU
|
5375 |
5405 |
2.81e-1 |
SMART |
|
NEBU
|
5410 |
5440 |
7.64e-3 |
SMART |
|
NEBU
|
5445 |
5475 |
5.62e-1 |
SMART |
|
NEBU
|
5480 |
5510 |
1.49e-5 |
SMART |
|
NEBU
|
5515 |
5545 |
3.97e-1 |
SMART |
|
NEBU
|
5550 |
5580 |
1.47e-4 |
SMART |
|
NEBU
|
5585 |
5615 |
6.45e-1 |
SMART |
|
NEBU
|
5620 |
5650 |
1.28e-4 |
SMART |
|
NEBU
|
5655 |
5685 |
9.33e-7 |
SMART |
|
NEBU
|
5690 |
5720 |
7.58e-7 |
SMART |
|
NEBU
|
5726 |
5756 |
1.94e-4 |
SMART |
|
NEBU
|
5761 |
5791 |
9.93e-2 |
SMART |
|
NEBU
|
5796 |
5826 |
2.45e-1 |
SMART |
|
NEBU
|
5831 |
5861 |
8.39e-1 |
SMART |
|
NEBU
|
5866 |
5896 |
1e-6 |
SMART |
|
NEBU
|
5903 |
5933 |
7.35e-5 |
SMART |
|
NEBU
|
5940 |
5970 |
1.37e-4 |
SMART |
|
NEBU
|
5974 |
6004 |
2.83e-6 |
SMART |
|
NEBU
|
6009 |
6039 |
1.52e-6 |
SMART |
|
NEBU
|
6046 |
6076 |
5.21e0 |
SMART |
|
NEBU
|
6081 |
6111 |
7.53e-2 |
SMART |
|
NEBU
|
6116 |
6146 |
2.5e-7 |
SMART |
|
NEBU
|
6149 |
6181 |
1.16e-2 |
SMART |
|
NEBU
|
6188 |
6218 |
1.47e-4 |
SMART |
|
NEBU
|
6225 |
6255 |
3.2e-5 |
SMART |
|
NEBU
|
6263 |
6293 |
8.07e-2 |
SMART |
|
NEBU
|
6298 |
6328 |
1.92e-8 |
SMART |
|
NEBU
|
6333 |
6363 |
1.08e-2 |
SMART |
|
NEBU
|
6368 |
6398 |
7.07e-7 |
SMART |
|
NEBU
|
6399 |
6429 |
2.39e-4 |
SMART |
|
NEBU
|
6430 |
6460 |
2.39e-4 |
SMART |
|
NEBU
|
6461 |
6491 |
5.97e-5 |
SMART |
|
NEBU
|
6492 |
6522 |
2.08e-4 |
SMART |
|
NEBU
|
6523 |
6553 |
2.68e-7 |
SMART |
|
NEBU
|
6554 |
6584 |
2.64e-6 |
SMART |
|
NEBU
|
6585 |
6615 |
6.96e-6 |
SMART |
|
NEBU
|
6616 |
6646 |
6.3e-4 |
SMART |
|
NEBU
|
6652 |
6682 |
2.14e-6 |
SMART |
|
NEBU
|
6687 |
6717 |
1.66e0 |
SMART |
|
low complexity region
|
6767 |
6781 |
N/A |
INTRINSIC |
|
SH3
|
6853 |
6909 |
5.11e-14 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131236
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135200
AA Change: H213Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000118735
Gene: ENSMUSG00000026950
AA Change: H213Y
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
26 |
56 |
1.37e-4 |
SMART |
|
NEBU
|
60 |
90 |
2.83e-6 |
SMART |
|
NEBU
|
95 |
125 |
1.52e-6 |
SMART |
|
NEBU
|
132 |
162 |
5.21e0 |
SMART |
|
NEBU
|
167 |
197 |
7.53e-2 |
SMART |
|
NEBU
|
202 |
232 |
2.5e-7 |
SMART |
|
NEBU
|
235 |
267 |
4.63e-2 |
SMART |
|
NEBU
|
274 |
304 |
3.2e-5 |
SMART |
|
NEBU
|
312 |
342 |
8.07e-2 |
SMART |
|
NEBU
|
347 |
377 |
1.92e-8 |
SMART |
|
NEBU
|
382 |
412 |
3.68e-5 |
SMART |
|
NEBU
|
413 |
443 |
2.39e-4 |
SMART |
|
NEBU
|
444 |
474 |
1.39e-5 |
SMART |
|
NEBU
|
475 |
505 |
1.91e-3 |
SMART |
|
NEBU
|
511 |
541 |
2.14e-6 |
SMART |
|
NEBU
|
546 |
576 |
1.66e0 |
SMART |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
SH3
|
712 |
768 |
5.11e-14 |
SMART |
|
|---|
| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to stunted growth, altered sarcomere structure, reduced contractility in skeletal muscle, progressive muscle weakness, and postnatal death. Observed phenotypes may include a stiff gait, blepharoptosis, kyphosis, abnormal suckling, and reduced adiposity. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbx |
G |
A |
16: 50,274,563 |
T130I |
probably damaging |
Het |
| Cdkl2 |
A |
G |
5: 92,017,380 |
|
probably null |
Het |
| Clrn1 |
A |
G |
3: 58,846,433 |
V169A |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,572,594 |
|
probably benign |
Het |
| Gucy2g |
A |
C |
19: 55,231,052 |
I379M |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,773,207 |
L533Q |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,725,903 |
K749N |
probably damaging |
Het |
| Krt6b |
G |
T |
15: 101,679,957 |
F89L |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,206,525 |
F439L |
possibly damaging |
Het |
| Nhej1 |
A |
G |
1: 74,968,261 |
S111P |
possibly damaging |
Het |
| Olfr728 |
G |
T |
14: 50,139,800 |
P280T |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,355,874 |
V601M |
probably damaging |
Het |
| Ripor3 |
A |
G |
2: 167,985,668 |
V621A |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,672,824 |
N732S |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,126,983 |
E170K |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,589,109 |
I356N |
possibly damaging |
Het |
| Tex2 |
C |
T |
11: 106,568,077 |
|
probably benign |
Het |
| Vmn2r50 |
T |
G |
7: 10,037,441 |
T778P |
probably damaging |
Het |
| Zfp709 |
T |
G |
8: 71,889,282 |
I184S |
probably benign |
Het |
|
|---|
| Other mutations in Neb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Neb
|
APN |
2 |
52308747 |
missense |
possibly damaging |
0.55 |
|
IGL00232:Neb
|
APN |
2 |
52235556 |
missense |
possibly damaging |
0.83 |
|
IGL00501:Neb
|
APN |
2 |
52295344 |
missense |
probably benign |
0.02 |
|
IGL00548:Neb
|
APN |
2 |
52243972 |
missense |
probably benign |
0.33 |
|
IGL00556:Neb
|
APN |
2 |
52191949 |
missense |
probably benign |
0.16 |
|
IGL00561:Neb
|
APN |
2 |
52206105 |
missense |
probably benign |
0.00 |
|
IGL00598:Neb
|
APN |
2 |
52208301 |
missense |
possibly damaging |
0.62 |
|
IGL00788:Neb
|
APN |
2 |
52205732 |
splice site |
probably benign |
|
|
IGL00817:Neb
|
APN |
2 |
52243195 |
missense |
probably damaging |
1.00 |
|
IGL00926:Neb
|
APN |
2 |
52270317 |
splice site |
probably benign |
|
|
IGL00975:Neb
|
APN |
2 |
52212728 |
missense |
probably benign |
0.01 |
|
IGL01012:Neb
|
APN |
2 |
52196361 |
missense |
probably benign |
|
|
IGL01014:Neb
|
APN |
2 |
52287158 |
missense |
probably benign |
0.11 |
|
IGL01419:Neb
|
APN |
2 |
52226533 |
nonsense |
probably null |
|
|
IGL01420:Neb
|
APN |
2 |
52157377 |
missense |
probably damaging |
1.00 |
|
IGL01459:Neb
|
APN |
2 |
52176792 |
missense |
probably damaging |
1.00 |
|
IGL01467:Neb
|
APN |
2 |
52159487 |
missense |
possibly damaging |
0.55 |
|
IGL01474:Neb
|
APN |
2 |
52328905 |
missense |
unknown |
|
|
IGL01506:Neb
|
APN |
2 |
52247190 |
missense |
probably damaging |
1.00 |
|
IGL01544:Neb
|
APN |
2 |
52292905 |
missense |
possibly damaging |
0.62 |
|
IGL01608:Neb
|
APN |
2 |
52170536 |
missense |
probably damaging |
1.00 |
|
IGL01681:Neb
|
APN |
2 |
52201486 |
missense |
probably damaging |
1.00 |
|
IGL01717:Neb
|
APN |
2 |
52189867 |
missense |
probably damaging |
1.00 |
|
IGL01743:Neb
|
APN |
2 |
52225667 |
missense |
probably damaging |
1.00 |
|
IGL01774:Neb
|
APN |
2 |
52222970 |
nonsense |
probably null |
|
|
IGL01787:Neb
|
APN |
2 |
52296355 |
missense |
possibly damaging |
0.56 |
|
IGL01822:Neb
|
APN |
2 |
52258746 |
missense |
possibly damaging |
0.68 |
|
IGL01844:Neb
|
APN |
2 |
52170549 |
missense |
probably benign |
0.01 |
|
IGL01871:Neb
|
APN |
2 |
52153069 |
missense |
probably damaging |
0.99 |
|
IGL01878:Neb
|
APN |
2 |
52169840 |
splice site |
probably benign |
|
|
IGL01886:Neb
|
APN |
2 |
52183845 |
splice site |
probably benign |
|
|
IGL01897:Neb
|
APN |
2 |
52280575 |
missense |
possibly damaging |
0.88 |
|
IGL02025:Neb
|
APN |
2 |
52307739 |
missense |
probably benign |
0.17 |
|
IGL02133:Neb
|
APN |
2 |
52212804 |
splice site |
probably null |
|
|
IGL02143:Neb
|
APN |
2 |
52291199 |
missense |
probably damaging |
0.99 |
|
IGL02212:Neb
|
APN |
2 |
52308311 |
missense |
probably damaging |
1.00 |
|
IGL02216:Neb
|
APN |
2 |
52226490 |
missense |
probably benign |
0.00 |
|
IGL02260:Neb
|
APN |
2 |
52205656 |
missense |
probably damaging |
1.00 |
|
IGL02364:Neb
|
APN |
2 |
52296254 |
nonsense |
probably null |
|
|
IGL02424:Neb
|
APN |
2 |
52264191 |
missense |
probably damaging |
1.00 |
|
IGL02449:Neb
|
APN |
2 |
52201906 |
missense |
probably benign |
0.00 |
|
IGL02465:Neb
|
APN |
2 |
52193165 |
unclassified |
probably benign |
|
|
IGL02475:Neb
|
APN |
2 |
52292819 |
missense |
probably damaging |
1.00 |
|
IGL02486:Neb
|
APN |
2 |
52282603 |
missense |
possibly damaging |
0.86 |
|
IGL02527:Neb
|
APN |
2 |
52263947 |
missense |
probably damaging |
1.00 |
|
IGL02527:Neb
|
APN |
2 |
52149213 |
missense |
probably benign |
0.36 |
|
IGL02547:Neb
|
APN |
2 |
52188730 |
missense |
probably damaging |
1.00 |
|
IGL02648:Neb
|
APN |
2 |
52271081 |
missense |
possibly damaging |
0.79 |
|
IGL02685:Neb
|
APN |
2 |
52175301 |
missense |
possibly damaging |
0.93 |
|
IGL02695:Neb
|
APN |
2 |
52255591 |
missense |
probably damaging |
1.00 |
|
IGL02695:Neb
|
APN |
2 |
52211596 |
splice site |
probably benign |
|
|
IGL02731:Neb
|
APN |
2 |
52160703 |
missense |
probably damaging |
1.00 |
|
IGL02738:Neb
|
APN |
2 |
52243850 |
missense |
probably damaging |
0.99 |
|
IGL02750:Neb
|
APN |
2 |
52291055 |
missense |
probably benign |
0.00 |
|
IGL02879:Neb
|
APN |
2 |
52256685 |
missense |
possibly damaging |
0.95 |
|
IGL02887:Neb
|
APN |
2 |
52200721 |
missense |
possibly damaging |
0.67 |
|
IGL02975:Neb
|
APN |
2 |
52298867 |
missense |
probably damaging |
0.99 |
|
IGL03009:Neb
|
APN |
2 |
52179456 |
splice site |
probably benign |
|
|
IGL03036:Neb
|
APN |
2 |
52244153 |
missense |
probably damaging |
1.00 |
|
IGL03076:Neb
|
APN |
2 |
52169088 |
missense |
probably damaging |
0.99 |
|
IGL03091:Neb
|
APN |
2 |
52271312 |
missense |
probably benign |
0.08 |
|
IGL03095:Neb
|
APN |
2 |
52169088 |
missense |
probably damaging |
0.99 |
|
IGL03096:Neb
|
APN |
2 |
52249472 |
missense |
possibly damaging |
0.59 |
|
IGL03107:Neb
|
APN |
2 |
52183825 |
missense |
probably benign |
0.41 |
|
IGL03171:Neb
|
APN |
2 |
52216364 |
splice site |
probably benign |
|
|
IGL03179:Neb
|
APN |
2 |
52176641 |
missense |
probably damaging |
1.00 |
|
IGL03186:Neb
|
APN |
2 |
52169088 |
missense |
probably damaging |
0.99 |
|
IGL03186:Neb
|
APN |
2 |
52210659 |
splice site |
probably benign |
|
|
IGL03209:Neb
|
APN |
2 |
52290819 |
missense |
probably damaging |
1.00 |
|
IGL03214:Neb
|
APN |
2 |
52159548 |
missense |
probably damaging |
1.00 |
|
IGL03214:Neb
|
APN |
2 |
52197844 |
missense |
possibly damaging |
0.75 |
|
IGL03233:Neb
|
APN |
2 |
52308301 |
missense |
possibly damaging |
0.93 |
|
IGL03287:Neb
|
APN |
2 |
52137323 |
missense |
probably damaging |
1.00 |
|
IGL03349:Neb
|
APN |
2 |
52278952 |
missense |
possibly damaging |
0.88 |
|
IGL03369:Neb
|
APN |
2 |
52178037 |
missense |
probably benign |
|
|
IGL03382:Neb
|
APN |
2 |
52325708 |
missense |
probably benign |
0.00 |
|
IGL03410:Neb
|
APN |
2 |
52319705 |
missense |
probably benign |
0.00 |
|
IGL03411:Neb
|
APN |
2 |
52292878 |
missense |
probably benign |
|
|
Fraulein
|
UTSW |
2 |
52298894 |
missense |
probably damaging |
1.00 |
|
mademoiselle
|
UTSW |
2 |
52207725 |
missense |
probably damaging |
0.99 |
|
monsieur
|
UTSW |
2 |
52305283 |
critical splice donor site |
probably null |
|
|
old_folks
|
UTSW |
2 |
52211556 |
missense |
probably damaging |
0.96 |
|
teenage
|
UTSW |
2 |
52271297 |
critical splice donor site |
probably null |
|
|
wedding
|
UTSW |
2 |
52292695 |
missense |
possibly damaging |
0.89 |
|
IGL03054:Neb
|
UTSW |
2 |
52271322 |
missense |
probably damaging |
1.00 |
|
PIT4354001:Neb
|
UTSW |
2 |
52245318 |
missense |
probably damaging |
0.99 |
|
PIT4495001:Neb
|
UTSW |
2 |
52212736 |
missense |
probably benign |
0.00 |
|
PIT4581001:Neb
|
UTSW |
2 |
52288802 |
missense |
probably damaging |
0.98 |
|
R0014:Neb
|
UTSW |
2 |
52287156 |
missense |
probably damaging |
0.99 |
|
R0014:Neb
|
UTSW |
2 |
52287156 |
missense |
probably damaging |
0.99 |
|
R0025:Neb
|
UTSW |
2 |
52222774 |
missense |
probably damaging |
0.99 |
|
R0049:Neb
|
UTSW |
2 |
52170467 |
missense |
possibly damaging |
0.86 |
|
R0049:Neb
|
UTSW |
2 |
52170467 |
missense |
possibly damaging |
0.86 |
|
R0052:Neb
|
UTSW |
2 |
52273980 |
missense |
possibly damaging |
0.62 |
|
R0066:Neb
|
UTSW |
2 |
52306530 |
missense |
probably damaging |
1.00 |
|
R0066:Neb
|
UTSW |
2 |
52306530 |
missense |
probably damaging |
1.00 |
|
R0097:Neb
|
UTSW |
2 |
52204894 |
missense |
probably damaging |
1.00 |
|
R0097:Neb
|
UTSW |
2 |
52204894 |
missense |
probably damaging |
1.00 |
|
R0110:Neb
|
UTSW |
2 |
52290743 |
splice site |
probably benign |
|
|
R0147:Neb
|
UTSW |
2 |
52249376 |
missense |
probably damaging |
0.99 |
|
R0148:Neb
|
UTSW |
2 |
52249376 |
missense |
probably damaging |
0.99 |
|
R0173:Neb
|
UTSW |
2 |
52243847 |
missense |
probably damaging |
1.00 |
|
R0201:Neb
|
UTSW |
2 |
52206878 |
splice site |
probably benign |
|
|
R0254:Neb
|
UTSW |
2 |
52243390 |
missense |
probably damaging |
1.00 |
|
R0295:Neb
|
UTSW |
2 |
52284285 |
missense |
possibly damaging |
0.90 |
|
R0314:Neb
|
UTSW |
2 |
52243331 |
missense |
probably benign |
0.01 |
|
R0316:Neb
|
UTSW |
2 |
52195470 |
missense |
possibly damaging |
0.96 |
|
R0380:Neb
|
UTSW |
2 |
52232202 |
missense |
probably damaging |
1.00 |
|
R0389:Neb
|
UTSW |
2 |
52161477 |
critical splice acceptor site |
probably null |
|
|
R0394:Neb
|
UTSW |
2 |
52177559 |
unclassified |
probably null |
|
|
R0401:Neb
|
UTSW |
2 |
52188677 |
splice site |
probably benign |
|
|
R0413:Neb
|
UTSW |
2 |
52290739 |
splice site |
probably benign |
|
|
R0427:Neb
|
UTSW |
2 |
52243884 |
missense |
possibly damaging |
0.83 |
|
R0427:Neb
|
UTSW |
2 |
52244069 |
missense |
probably damaging |
0.98 |
|
R0443:Neb
|
UTSW |
2 |
52161477 |
critical splice acceptor site |
probably null |
|
|
R0453:Neb
|
UTSW |
2 |
52313890 |
splice site |
probably null |
|
|
R0468:Neb
|
UTSW |
2 |
52211556 |
missense |
probably damaging |
0.96 |
|
R0510:Neb
|
UTSW |
2 |
52290743 |
splice site |
probably benign |
|
|
R0513:Neb
|
UTSW |
2 |
52308687 |
missense |
probably damaging |
0.98 |
|
R0590:Neb
|
UTSW |
2 |
52137290 |
missense |
probably damaging |
0.99 |
|
R0605:Neb
|
UTSW |
2 |
52264026 |
missense |
possibly damaging |
0.92 |
|
R0608:Neb
|
UTSW |
2 |
52326757 |
missense |
probably benign |
0.19 |
|
R0622:Neb
|
UTSW |
2 |
52212951 |
missense |
probably benign |
0.09 |
|
R0639:Neb
|
UTSW |
2 |
52256124 |
missense |
possibly damaging |
0.47 |
|
R0656:Neb
|
UTSW |
2 |
52225558 |
splice site |
probably benign |
|
|
R0670:Neb
|
UTSW |
2 |
52256124 |
missense |
possibly damaging |
0.47 |
|
R0673:Neb
|
UTSW |
2 |
52256124 |
missense |
possibly damaging |
0.47 |
|
R0732:Neb
|
UTSW |
2 |
52258681 |
missense |
probably damaging |
1.00 |
|
R0732:Neb
|
UTSW |
2 |
52291268 |
missense |
probably damaging |
1.00 |
|
R0736:Neb
|
UTSW |
2 |
52192012 |
missense |
probably damaging |
1.00 |
|
R0764:Neb
|
UTSW |
2 |
52216867 |
unclassified |
probably benign |
|
|
R0811:Neb
|
UTSW |
2 |
52292695 |
missense |
possibly damaging |
0.89 |
|
R0812:Neb
|
UTSW |
2 |
52292695 |
missense |
possibly damaging |
0.89 |
|
R0839:Neb
|
UTSW |
2 |
52277548 |
missense |
probably damaging |
0.99 |
|
R0960:Neb
|
UTSW |
2 |
52212983 |
missense |
probably benign |
0.17 |
|
R1026:Neb
|
UTSW |
2 |
52264110 |
missense |
possibly damaging |
0.93 |
|
R1076:Neb
|
UTSW |
2 |
52204892 |
missense |
probably damaging |
1.00 |
|
R1170:Neb
|
UTSW |
2 |
52196357 |
missense |
probably damaging |
1.00 |
|
R1184:Neb
|
UTSW |
2 |
52263947 |
missense |
probably damaging |
1.00 |
|
R1185:Neb
|
UTSW |
2 |
52296298 |
missense |
probably damaging |
1.00 |
|
R1185:Neb
|
UTSW |
2 |
52296298 |
missense |
probably damaging |
1.00 |
|
R1185:Neb
|
UTSW |
2 |
52296298 |
missense |
probably damaging |
1.00 |
|
R1200:Neb
|
UTSW |
2 |
52167645 |
missense |
probably damaging |
1.00 |
|
R1205:Neb
|
UTSW |
2 |
52222984 |
missense |
probably damaging |
0.97 |
|
R1208:Neb
|
UTSW |
2 |
52303900 |
nonsense |
probably null |
|
|
R1208:Neb
|
UTSW |
2 |
52303900 |
nonsense |
probably null |
|
|
R1229:Neb
|
UTSW |
2 |
52243943 |
missense |
probably damaging |
1.00 |
|
R1240:Neb
|
UTSW |
2 |
52296309 |
missense |
possibly damaging |
0.92 |
|
R1374:Neb
|
UTSW |
2 |
52243389 |
missense |
probably damaging |
1.00 |
|
R1381:Neb
|
UTSW |
2 |
52260532 |
missense |
probably damaging |
1.00 |
|
R1397:Neb
|
UTSW |
2 |
52243943 |
missense |
probably damaging |
1.00 |
|
R1398:Neb
|
UTSW |
2 |
52289646 |
missense |
probably damaging |
1.00 |
|
R1404:Neb
|
UTSW |
2 |
52183275 |
missense |
possibly damaging |
0.95 |
|
R1404:Neb
|
UTSW |
2 |
52183275 |
missense |
possibly damaging |
0.95 |
|
R1452:Neb
|
UTSW |
2 |
52271297 |
critical splice donor site |
probably null |
|
|
R1467:Neb
|
UTSW |
2 |
52230047 |
missense |
probably damaging |
1.00 |
|
R1467:Neb
|
UTSW |
2 |
52230047 |
missense |
probably damaging |
1.00 |
|
R1477:Neb
|
UTSW |
2 |
52264122 |
missense |
probably damaging |
0.99 |
|
R1478:Neb
|
UTSW |
2 |
52175607 |
missense |
probably benign |
0.29 |
|
R1496:Neb
|
UTSW |
2 |
52328734 |
missense |
probably damaging |
0.99 |
|
R1503:Neb
|
UTSW |
2 |
52298620 |
missense |
probably damaging |
0.96 |
|
R1513:Neb
|
UTSW |
2 |
52227244 |
missense |
probably damaging |
1.00 |
|
R1600:Neb
|
UTSW |
2 |
52271604 |
missense |
probably damaging |
1.00 |
|
R1601:Neb
|
UTSW |
2 |
52287252 |
nonsense |
probably null |
|
|
R1638:Neb
|
UTSW |
2 |
52249281 |
missense |
probably benign |
0.05 |
|
R1712:Neb
|
UTSW |
2 |
52243389 |
missense |
probably damaging |
1.00 |
|
R1717:Neb
|
UTSW |
2 |
52308747 |
missense |
possibly damaging |
0.55 |
|
R1720:Neb
|
UTSW |
2 |
52207721 |
missense |
probably benign |
0.02 |
|
R1722:Neb
|
UTSW |
2 |
52256745 |
missense |
probably damaging |
1.00 |
|
R1765:Neb
|
UTSW |
2 |
52204664 |
missense |
probably damaging |
1.00 |
|
R1772:Neb
|
UTSW |
2 |
52235677 |
missense |
probably damaging |
1.00 |
|
R1782:Neb
|
UTSW |
2 |
52284345 |
nonsense |
probably null |
|
|
R1834:Neb
|
UTSW |
2 |
52236895 |
missense |
probably damaging |
1.00 |
|
R1847:Neb
|
UTSW |
2 |
52196295 |
missense |
possibly damaging |
0.80 |
|
R1852:Neb
|
UTSW |
2 |
52228542 |
missense |
probably damaging |
0.98 |
|
R1862:Neb
|
UTSW |
2 |
52162187 |
splice site |
probably null |
|
|
R1864:Neb
|
UTSW |
2 |
52212760 |
nonsense |
probably null |
|
|
R1868:Neb
|
UTSW |
2 |
52326744 |
missense |
probably damaging |
0.99 |
|
R1880:Neb
|
UTSW |
2 |
52258731 |
missense |
probably damaging |
0.98 |
|
R1906:Neb
|
UTSW |
2 |
52308526 |
missense |
probably damaging |
1.00 |
|
R1926:Neb
|
UTSW |
2 |
52279635 |
missense |
probably damaging |
1.00 |
|
R1944:Neb
|
UTSW |
2 |
52228850 |
missense |
probably benign |
0.23 |
|
R1962:Neb
|
UTSW |
2 |
52272937 |
nonsense |
probably null |
|
|
R1970:Neb
|
UTSW |
2 |
52263905 |
missense |
possibly damaging |
0.77 |
|
R1978:Neb
|
UTSW |
2 |
52287345 |
missense |
probably damaging |
1.00 |
|
R1995:Neb
|
UTSW |
2 |
52298732 |
missense |
probably damaging |
1.00 |
|
R2000:Neb
|
UTSW |
2 |
52212970 |
nonsense |
probably null |
|
|
R2006:Neb
|
UTSW |
2 |
52199444 |
missense |
probably null |
1.00 |
|
R2019:Neb
|
UTSW |
2 |
52232276 |
nonsense |
probably null |
|
|
R2034:Neb
|
UTSW |
2 |
52280611 |
missense |
possibly damaging |
0.78 |
|
R2067:Neb
|
UTSW |
2 |
52284263 |
missense |
probably benign |
0.16 |
|
R2104:Neb
|
UTSW |
2 |
52256814 |
missense |
probably benign |
0.14 |
|
R2104:Neb
|
UTSW |
2 |
52271558 |
missense |
probably damaging |
1.00 |
|
R2111:Neb
|
UTSW |
2 |
52284263 |
missense |
probably benign |
0.16 |
|
R2112:Neb
|
UTSW |
2 |
52328764 |
missense |
probably damaging |
1.00 |
|
R2120:Neb
|
UTSW |
2 |
52264064 |
missense |
probably damaging |
1.00 |
|
R2121:Neb
|
UTSW |
2 |
52264064 |
missense |
probably damaging |
1.00 |
|
R2124:Neb
|
UTSW |
2 |
52264064 |
missense |
probably damaging |
1.00 |
|
R2125:Neb
|
UTSW |
2 |
52310638 |
missense |
probably damaging |
1.00 |
|
R2126:Neb
|
UTSW |
2 |
52310638 |
missense |
probably damaging |
1.00 |
|
R2139:Neb
|
UTSW |
2 |
52212588 |
missense |
probably damaging |
0.99 |
|
R2207:Neb
|
UTSW |
2 |
52211567 |
nonsense |
probably null |
|
|
R2228:Neb
|
UTSW |
2 |
52232995 |
missense |
probably benign |
0.19 |
|
R2352:Neb
|
UTSW |
2 |
52287336 |
missense |
probably damaging |
1.00 |
|
R2374:Neb
|
UTSW |
2 |
52263657 |
missense |
probably damaging |
1.00 |
|
R2413:Neb
|
UTSW |
2 |
52210632 |
missense |
probably damaging |
1.00 |
|
R2424:Neb
|
UTSW |
2 |
52209659 |
splice site |
probably benign |
|
|
R2426:Neb
|
UTSW |
2 |
52169053 |
splice site |
probably null |
|
|
R2508:Neb
|
UTSW |
2 |
52195521 |
missense |
probably benign |
0.23 |
|
R2512:Neb
|
UTSW |
2 |
52210831 |
missense |
probably damaging |
0.99 |
|
R2518:Neb
|
UTSW |
2 |
52249511 |
nonsense |
probably null |
|
|
R2899:Neb
|
UTSW |
2 |
52185323 |
missense |
probably benign |
|
|
R3500:Neb
|
UTSW |
2 |
52325785 |
missense |
probably damaging |
1.00 |
|
R3690:Neb
|
UTSW |
2 |
52137385 |
missense |
probably damaging |
1.00 |
|
R3716:Neb
|
UTSW |
2 |
52277470 |
missense |
probably damaging |
1.00 |
|
R3717:Neb
|
UTSW |
2 |
52277470 |
missense |
probably damaging |
1.00 |
|
R3718:Neb
|
UTSW |
2 |
52277470 |
missense |
probably damaging |
1.00 |
|
R3786:Neb
|
UTSW |
2 |
52201915 |
missense |
probably damaging |
1.00 |
|
R3809:Neb
|
UTSW |
2 |
52256789 |
missense |
possibly damaging |
0.73 |
|
R3840:Neb
|
UTSW |
2 |
52207660 |
critical splice donor site |
probably null |
|
|
R3841:Neb
|
UTSW |
2 |
52207660 |
critical splice donor site |
probably null |
|
|
R3956:Neb
|
UTSW |
2 |
52201963 |
missense |
possibly damaging |
0.62 |
|
R3958:Neb
|
UTSW |
2 |
52263629 |
missense |
probably damaging |
1.00 |
|
R4057:Neb
|
UTSW |
2 |
52206699 |
missense |
possibly damaging |
0.89 |
|
R4057:Neb
|
UTSW |
2 |
52237108 |
missense |
probably benign |
0.32 |
|
R4110:Neb
|
UTSW |
2 |
52148766 |
missense |
probably benign |
0.10 |
|
R4110:Neb
|
UTSW |
2 |
52244125 |
missense |
probably damaging |
1.00 |
|
R4128:Neb
|
UTSW |
2 |
52292700 |
missense |
probably damaging |
1.00 |
|
R4195:Neb
|
UTSW |
2 |
52271559 |
missense |
probably damaging |
1.00 |
|
R4195:Neb
|
UTSW |
2 |
52290835 |
missense |
probably damaging |
1.00 |
|
R4288:Neb
|
UTSW |
2 |
52259300 |
missense |
probably damaging |
1.00 |
|
R4323:Neb
|
UTSW |
2 |
52264110 |
missense |
possibly damaging |
0.93 |
|
R4394:Neb
|
UTSW |
2 |
52187513 |
nonsense |
probably null |
|
|
R4463:Neb
|
UTSW |
2 |
52279722 |
frame shift |
probably null |
|
|
R4527:Neb
|
UTSW |
2 |
52193237 |
missense |
probably benign |
0.42 |
|
R4561:Neb
|
UTSW |
2 |
52286155 |
missense |
probably damaging |
1.00 |
|
R4612:Neb
|
UTSW |
2 |
52287243 |
missense |
probably damaging |
0.99 |
|
R4621:Neb
|
UTSW |
2 |
52271039 |
nonsense |
probably null |
|
|
R4628:Neb
|
UTSW |
2 |
52308350 |
nonsense |
probably null |
|
|
R4655:Neb
|
UTSW |
2 |
52227299 |
missense |
probably damaging |
0.98 |
|
R4660:Neb
|
UTSW |
2 |
52255588 |
missense |
possibly damaging |
0.85 |
|
R4683:Neb
|
UTSW |
2 |
52244062 |
missense |
possibly damaging |
0.89 |
|
R4687:Neb
|
UTSW |
2 |
52304035 |
missense |
possibly damaging |
0.95 |
|
R4690:Neb
|
UTSW |
2 |
52244075 |
missense |
probably benign |
0.25 |
|
R4710:Neb
|
UTSW |
2 |
52260598 |
missense |
probably benign |
0.32 |
|
R4729:Neb
|
UTSW |
2 |
52263662 |
missense |
possibly damaging |
0.80 |
|
R4732:Neb
|
UTSW |
2 |
52279079 |
missense |
probably damaging |
1.00 |
|
R4733:Neb
|
UTSW |
2 |
52279079 |
missense |
probably damaging |
1.00 |
|
R4738:Neb
|
UTSW |
2 |
52187482 |
missense |
probably damaging |
1.00 |
|
R4744:Neb
|
UTSW |
2 |
52150577 |
missense |
probably benign |
0.29 |
|
R4755:Neb
|
UTSW |
2 |
52220209 |
missense |
probably damaging |
1.00 |
|
R4756:Neb
|
UTSW |
2 |
52193231 |
missense |
probably damaging |
0.96 |
|
R4763:Neb
|
UTSW |
2 |
52237040 |
nonsense |
probably null |
|
|
R4763:Neb
|
UTSW |
2 |
52326720 |
nonsense |
probably null |
|
|
R4770:Neb
|
UTSW |
2 |
52149153 |
missense |
probably benign |
0.00 |
|
R4801:Neb
|
UTSW |
2 |
52200703 |
missense |
possibly damaging |
0.65 |
|
R4802:Neb
|
UTSW |
2 |
52200703 |
missense |
possibly damaging |
0.65 |
|
R4824:Neb
|
UTSW |
2 |
52204879 |
missense |
possibly damaging |
0.86 |
|
R4830:Neb
|
UTSW |
2 |
52192520 |
missense |
probably damaging |
0.99 |
|
R4855:Neb
|
UTSW |
2 |
52298894 |
missense |
probably damaging |
1.00 |
|
R4857:Neb
|
UTSW |
2 |
52201980 |
missense |
probably damaging |
1.00 |
|
R4878:Neb
|
UTSW |
2 |
52219394 |
missense |
probably damaging |
1.00 |
|
R4885:Neb
|
UTSW |
2 |
52286046 |
missense |
probably damaging |
1.00 |
|
R4888:Neb
|
UTSW |
2 |
52296307 |
missense |
probably benign |
0.17 |
|
R4928:Neb
|
UTSW |
2 |
52212975 |
missense |
possibly damaging |
0.79 |
|
R4954:Neb
|
UTSW |
2 |
52177518 |
unclassified |
probably null |
|
|
R4974:Neb
|
UTSW |
2 |
52246859 |
missense |
probably damaging |
1.00 |
|
R4979:Neb
|
UTSW |
2 |
52189909 |
missense |
probably damaging |
1.00 |
|
R4983:Neb
|
UTSW |
2 |
52216261 |
missense |
probably damaging |
0.99 |
|
R4990:Neb
|
UTSW |
2 |
52255546 |
missense |
probably benign |
|
|
R5026:Neb
|
UTSW |
2 |
52204880 |
missense |
possibly damaging |
0.94 |
|
R5030:Neb
|
UTSW |
2 |
52334492 |
start gained |
probably benign |
|
|
R5062:Neb
|
UTSW |
2 |
52280501 |
missense |
possibly damaging |
0.94 |
|
R5063:Neb
|
UTSW |
2 |
52223212 |
intron |
probably benign |
|
|
R5099:Neb
|
UTSW |
2 |
52195448 |
missense |
probably damaging |
1.00 |
|
R5102:Neb
|
UTSW |
2 |
52226570 |
missense |
possibly damaging |
0.70 |
|
R5124:Neb
|
UTSW |
2 |
52281498 |
missense |
probably damaging |
1.00 |
|
R5150:Neb
|
UTSW |
2 |
52169118 |
missense |
probably benign |
0.09 |
|
R5217:Neb
|
UTSW |
2 |
52162130 |
nonsense |
probably null |
|
|
R5280:Neb
|
UTSW |
2 |
52147156 |
missense |
probably damaging |
1.00 |
|
R5288:Neb
|
UTSW |
2 |
52189861 |
missense |
probably damaging |
0.99 |
|
R5314:Neb
|
UTSW |
2 |
52281503 |
missense |
probably benign |
0.22 |
|
R5340:Neb
|
UTSW |
2 |
52223048 |
missense |
probably damaging |
1.00 |
|
R5375:Neb
|
UTSW |
2 |
52212584 |
missense |
possibly damaging |
0.75 |
|
R5385:Neb
|
UTSW |
2 |
52189861 |
missense |
probably damaging |
0.99 |
|
R5411:Neb
|
UTSW |
2 |
52295372 |
missense |
probably damaging |
0.98 |
|
R5470:Neb
|
UTSW |
2 |
52249438 |
missense |
possibly damaging |
0.88 |
|
R5500:Neb
|
UTSW |
2 |
52162067 |
critical splice donor site |
probably null |
|
|
R5523:Neb
|
UTSW |
2 |
52278815 |
missense |
probably benign |
|
|
R5527:Neb
|
UTSW |
2 |
52334453 |
missense |
unknown |
|
|
R5622:Neb
|
UTSW |
2 |
52270269 |
missense |
probably damaging |
0.96 |
|
R5625:Neb
|
UTSW |
2 |
52177535 |
nonsense |
probably null |
|
|
R5688:Neb
|
UTSW |
2 |
52196327 |
missense |
probably damaging |
1.00 |
|
R5715:Neb
|
UTSW |
2 |
52251768 |
missense |
probably damaging |
1.00 |
|
R5716:Neb
|
UTSW |
2 |
52210584 |
missense |
probably benign |
|
|
R5760:Neb
|
UTSW |
2 |
52183818 |
missense |
probably damaging |
1.00 |
|
R5779:Neb
|
UTSW |
2 |
52245301 |
missense |
probably damaging |
0.99 |
|
R5782:Neb
|
UTSW |
2 |
52264047 |
nonsense |
probably null |
|
|
R5862:Neb
|
UTSW |
2 |
52179542 |
nonsense |
probably null |
|
|
R5905:Neb
|
UTSW |
2 |
52193231 |
missense |
probably damaging |
0.99 |
|
R5918:Neb
|
UTSW |
2 |
52197894 |
missense |
probably damaging |
1.00 |
|
R5939:Neb
|
UTSW |
2 |
52257594 |
missense |
probably benign |
|
|
R5959:Neb
|
UTSW |
2 |
52156377 |
missense |
probably benign |
0.22 |
|
R5976:Neb
|
UTSW |
2 |
52216916 |
missense |
possibly damaging |
0.88 |
|
R5987:Neb
|
UTSW |
2 |
52295294 |
missense |
probably benign |
0.10 |
|
R6020:Neb
|
UTSW |
2 |
52257827 |
missense |
probably benign |
0.05 |
|
R6028:Neb
|
UTSW |
2 |
52193231 |
missense |
probably damaging |
0.99 |
|
R6045:Neb
|
UTSW |
2 |
52194425 |
unclassified |
probably null |
|
|
R6062:Neb
|
UTSW |
2 |
52185281 |
missense |
probably benign |
0.05 |
|
R6088:Neb
|
UTSW |
2 |
52209342 |
missense |
probably damaging |
1.00 |
|
R6093:Neb
|
UTSW |
2 |
52251770 |
nonsense |
probably null |
|
|
R6119:Neb
|
UTSW |
2 |
52220931 |
missense |
probably benign |
0.36 |
|
R6167:Neb
|
UTSW |
2 |
52147237 |
missense |
probably benign |
0.12 |
|
R6192:Neb
|
UTSW |
2 |
52256790 |
missense |
probably benign |
0.00 |
|
R6216:Neb
|
UTSW |
2 |
52224552 |
missense |
probably benign |
0.45 |
|
R6220:Neb
|
UTSW |
2 |
52270972 |
missense |
probably null |
0.00 |
|
R6239:Neb
|
UTSW |
2 |
52273988 |
missense |
probably benign |
|
|
R6242:Neb
|
UTSW |
2 |
52176812 |
missense |
probably damaging |
1.00 |
|
R6254:Neb
|
UTSW |
2 |
52222961 |
missense |
probably benign |
0.01 |
|
R6262:Neb
|
UTSW |
2 |
52308687 |
missense |
probably damaging |
0.98 |
|
R6305:Neb
|
UTSW |
2 |
52251763 |
nonsense |
probably null |
|
|
R6319:Neb
|
UTSW |
2 |
52163011 |
critical splice acceptor site |
probably null |
|
|
R6333:Neb
|
UTSW |
2 |
52258263 |
missense |
probably damaging |
1.00 |
|
R6341:Neb
|
UTSW |
2 |
52209474 |
missense |
probably damaging |
1.00 |
|
R6362:Neb
|
UTSW |
2 |
52212692 |
missense |
probably benign |
0.01 |
|
R6378:Neb
|
UTSW |
2 |
52293721 |
missense |
probably damaging |
1.00 |
|
R6385:Neb
|
UTSW |
2 |
52185299 |
missense |
probably damaging |
0.99 |
|
R6404:Neb
|
UTSW |
2 |
52207725 |
missense |
probably damaging |
0.99 |
|
R6416:Neb
|
UTSW |
2 |
52185328 |
missense |
probably benign |
0.10 |
|
R6437:Neb
|
UTSW |
2 |
52257557 |
splice site |
probably null |
|
|
R6448:Neb
|
UTSW |
2 |
52148814 |
missense |
probably damaging |
1.00 |
|
R6450:Neb
|
UTSW |
2 |
52194469 |
nonsense |
probably null |
|
|
R6452:Neb
|
UTSW |
2 |
52179483 |
missense |
probably benign |
0.00 |
|
R6455:Neb
|
UTSW |
2 |
52167644 |
nonsense |
probably null |
|
|
R6474:Neb
|
UTSW |
2 |
52280612 |
missense |
probably benign |
0.00 |
|
R6497:Neb
|
UTSW |
2 |
52258289 |
missense |
possibly damaging |
0.53 |
|
R6502:Neb
|
UTSW |
2 |
52291082 |
missense |
probably benign |
0.34 |
|
R6572:Neb
|
UTSW |
2 |
52278847 |
missense |
probably damaging |
1.00 |
|
R6617:Neb
|
UTSW |
2 |
52207747 |
missense |
probably damaging |
1.00 |
|
R6659:Neb
|
UTSW |
2 |
52234353 |
missense |
probably damaging |
1.00 |
|
R6667:Neb
|
UTSW |
2 |
52147189 |
missense |
probably damaging |
1.00 |
|
R6701:Neb
|
UTSW |
2 |
52291208 |
missense |
probably damaging |
1.00 |
|
R6711:Neb
|
UTSW |
2 |
52223064 |
missense |
probably benign |
0.22 |
|
R6711:Neb
|
UTSW |
2 |
52256287 |
missense |
probably damaging |
1.00 |
|
R6861:Neb
|
UTSW |
2 |
52195720 |
missense |
probably damaging |
1.00 |
|
R6872:Neb
|
UTSW |
2 |
52293645 |
missense |
probably damaging |
0.99 |
|
R6886:Neb
|
UTSW |
2 |
52220224 |
missense |
probably damaging |
1.00 |
|
R6923:Neb
|
UTSW |
2 |
52186064 |
missense |
probably damaging |
0.97 |
|
R7025:Neb
|
UTSW |
2 |
52296273 |
missense |
possibly damaging |
0.94 |
|
R7050:Neb
|
UTSW |
2 |
52222876 |
missense |
possibly damaging |
0.67 |
|
R7091:Neb
|
UTSW |
2 |
52256112 |
missense |
|
|
|
R7095:Neb
|
UTSW |
2 |
52177623 |
missense |
possibly damaging |
0.95 |
|
R7102:Neb
|
UTSW |
2 |
52304055 |
missense |
probably damaging |
1.00 |
|
R7114:Neb
|
UTSW |
2 |
52192559 |
missense |
probably damaging |
1.00 |
|
R7152:Neb
|
UTSW |
2 |
52263545 |
missense |
probably damaging |
1.00 |
|
R7156:Neb
|
UTSW |
2 |
52305283 |
critical splice donor site |
probably null |
|
|
R7161:Neb
|
UTSW |
2 |
52271592 |
missense |
probably damaging |
1.00 |
|
R7165:Neb
|
UTSW |
2 |
52270306 |
missense |
probably damaging |
1.00 |
|
R7199:Neb
|
UTSW |
2 |
52220200 |
missense |
probably benign |
0.01 |
|
R7205:Neb
|
UTSW |
2 |
52196356 |
missense |
probably damaging |
1.00 |
|
R7224:Neb
|
UTSW |
2 |
52334659 |
intron |
probably null |
|
|
R7247:Neb
|
UTSW |
2 |
52258741 |
missense |
probably damaging |
1.00 |
|
R7252:Neb
|
UTSW |
2 |
52324961 |
critical splice donor site |
probably null |
|
|
R7275:Neb
|
UTSW |
2 |
52206944 |
missense |
probably benign |
0.30 |
|
R7284:Neb
|
UTSW |
2 |
52258792 |
missense |
probably damaging |
0.97 |
|
R7316:Neb
|
UTSW |
2 |
52271438 |
missense |
possibly damaging |
0.80 |
|
R7330:Neb
|
UTSW |
2 |
52189703 |
missense |
possibly damaging |
0.89 |
|
R7342:Neb
|
UTSW |
2 |
52281667 |
missense |
probably damaging |
1.00 |
|
R7451:Neb
|
UTSW |
2 |
52201454 |
missense |
probably benign |
|
|
R7464:Neb
|
UTSW |
2 |
52193890 |
missense |
probably benign |
0.02 |
|
R7488:Neb
|
UTSW |
2 |
52220221 |
missense |
probably benign |
|
|
R7498:Neb
|
UTSW |
2 |
52258176 |
missense |
probably damaging |
1.00 |
|
R7513:Neb
|
UTSW |
2 |
52209540 |
missense |
possibly damaging |
0.83 |
|
R7527:Neb
|
UTSW |
2 |
52176623 |
missense |
probably damaging |
1.00 |
|
R7533:Neb
|
UTSW |
2 |
52224566 |
missense |
|
|
|
R7535:Neb
|
UTSW |
2 |
52165103 |
intron |
probably null |
|
|
R7538:Neb
|
UTSW |
2 |
52256575 |
splice site |
probably null |
|
|
R7547:Neb
|
UTSW |
2 |
52282625 |
missense |
probably benign |
0.00 |
|
R7552:Neb
|
UTSW |
2 |
52247190 |
missense |
|
|
|
R7582:Neb
|
UTSW |
2 |
52334492 |
start gained |
probably benign |
|
|
R7590:Neb
|
UTSW |
2 |
52243842 |
missense |
probably damaging |
1.00 |
|
R7606:Neb
|
UTSW |
2 |
52226444 |
missense |
|
|
|
R7619:Neb
|
UTSW |
2 |
52296426 |
missense |
possibly damaging |
0.53 |
|
R7629:Neb
|
UTSW |
2 |
52273961 |
missense |
possibly damaging |
0.96 |
|
R7660:Neb
|
UTSW |
2 |
52249439 |
missense |
|
|
|
R7663:Neb
|
UTSW |
2 |
52230047 |
missense |
|
|
|
R7678:Neb
|
UTSW |
2 |
52206702 |
missense |
probably damaging |
1.00 |
|
R7693:Neb
|
UTSW |
2 |
52299569 |
missense |
probably damaging |
0.96 |
|
R7728:Neb
|
UTSW |
2 |
52183299 |
missense |
probably damaging |
1.00 |
|
R7776:Neb
|
UTSW |
2 |
52207701 |
missense |
possibly damaging |
0.72 |
|
R7784:Neb
|
UTSW |
2 |
52235488 |
missense |
|
|
|
R7808:Neb
|
UTSW |
2 |
52192023 |
missense |
probably damaging |
1.00 |
|
R7814:Neb
|
UTSW |
2 |
52137380 |
missense |
probably damaging |
1.00 |
|
R7830:Neb
|
UTSW |
2 |
52165189 |
missense |
probably benign |
0.04 |
|
R7835:Neb
|
UTSW |
2 |
52150577 |
missense |
probably benign |
0.29 |
|
R7851:Neb
|
UTSW |
2 |
52153064 |
missense |
probably benign |
|
|
R7857:Neb
|
UTSW |
2 |
52222984 |
missense |
probably damaging |
0.97 |
|
R7870:Neb
|
UTSW |
2 |
52325749 |
missense |
probably damaging |
1.00 |
|
R7889:Neb
|
UTSW |
2 |
52147669 |
missense |
probably benign |
0.00 |
|
R7912:Neb
|
UTSW |
2 |
52220985 |
missense |
possibly damaging |
0.51 |
|
R7918:Neb
|
UTSW |
2 |
52150577 |
missense |
probably benign |
0.29 |
|
R7934:Neb
|
UTSW |
2 |
52153064 |
missense |
probably benign |
|
|
R7940:Neb
|
UTSW |
2 |
52222984 |
missense |
probably damaging |
0.97 |
|
R7953:Neb
|
UTSW |
2 |
52325749 |
missense |
probably damaging |
1.00 |
|
R7972:Neb
|
UTSW |
2 |
52147669 |
missense |
probably benign |
0.00 |
|
R7993:Neb
|
UTSW |
2 |
52220985 |
missense |
possibly damaging |
0.51 |
|
R8000:Neb
|
UTSW |
2 |
52288844 |
missense |
not run |
|
|
R8026:Neb
|
UTSW |
2 |
52223048 |
missense |
not run |
|
|
R8050:Neb
|
UTSW |
2 |
52221726 |
missense |
not run |
|
|
R8053:Neb
|
UTSW |
2 |
52286017 |
missense |
not run |
|
|
RF001:Neb
|
UTSW |
2 |
52195421 |
missense |
probably damaging |
1.00 |
|
X0021:Neb
|
UTSW |
2 |
52270300 |
missense |
probably benign |
|
|
X0026:Neb
|
UTSW |
2 |
52243904 |
missense |
probably benign |
0.34 |
|
X0027:Neb
|
UTSW |
2 |
52227314 |
missense |
probably damaging |
1.00 |
|
X0065:Neb
|
UTSW |
2 |
52249304 |
missense |
possibly damaging |
0.95 |
|
Z1088:Neb
|
UTSW |
2 |
52169872 |
missense |
possibly damaging |
0.68 |
|
Z1088:Neb
|
UTSW |
2 |
52223152 |
missense |
probably benign |
0.00 |
|
Z1088:Neb
|
UTSW |
2 |
52308567 |
missense |
probably damaging |
1.00 |
|
Z1176:Neb
|
UTSW |
2 |
52267782 |
missense |
not run |
|
|
Z1176:Neb
|
UTSW |
2 |
52279631 |
critical splice donor site |
unknown |
|
|
Z1177:Neb
|
UTSW |
2 |
52162998 |
missense |
not run |
|
|
Z1177:Neb
|
UTSW |
2 |
52209407 |
missense |
not run |
|
|
Z1177:Neb
|
UTSW |
2 |
52256670 |
missense |
not run |
|
|
Z1177:Neb
|
UTSW |
2 |
52299502 |
missense |
not run |
|
|
|---|
| Posted On | 2016-08-02 |
|---|
