Incidental Mutation 'R0590:Neb'
ID 55909
Institutional Source Beutler Lab
Gene Symbol Neb
Ensembl Gene ENSMUSG00000026950
Gene Name nebulin
Synonyms
MMRRC Submission 038780-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R0590 (G1)
Quality Score 206
Status Validated
Chromosome 2
Chromosomal Location 52026652-52228810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52027302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 7143 (M7143V)
Ref Sequence ENSEMBL: ENSMUSP00000047763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028320] [ENSMUST00000036934] [ENSMUST00000075301]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028320
AA Change: M3035V

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028320
Gene: ENSMUSG00000026950
AA Change: M3035V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000036934
AA Change: M7143V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047763
Gene: ENSMUSG00000026950
AA Change: M7143V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000075301
AA Change: M6900V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074773
Gene: ENSMUSG00000026950
AA Change: M6900V

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000135200
AA Change: M758V
SMART Domains Protein: ENSMUSP00000118735
Gene: ENSMUSG00000026950
AA Change: M758V

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137410
Meta Mutation Damage Score 0.1778 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (47/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 C T 4: 49,383,273 (GRCm39) M93I probably benign Het
Adamts16 T C 13: 70,949,073 (GRCm39) D196G probably benign Het
Adhfe1 T A 1: 9,618,378 (GRCm39) probably null Het
AI661453 A G 17: 47,777,999 (GRCm39) probably benign Het
Apc G T 18: 34,449,283 (GRCm39) E2026* probably null Het
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Cad T C 5: 31,219,575 (GRCm39) S688P probably damaging Het
Ccdc191 C T 16: 43,751,704 (GRCm39) R345* probably null Het
Dcaf13 T A 15: 39,008,480 (GRCm39) probably benign Het
Drc1 A G 5: 30,520,480 (GRCm39) D607G probably benign Het
Fhip1a T C 3: 85,579,683 (GRCm39) R841G probably benign Het
Gli1 G T 10: 127,167,432 (GRCm39) A607E possibly damaging Het
Gls G A 1: 52,251,534 (GRCm39) probably benign Het
Gria1 A T 11: 57,180,235 (GRCm39) Q728H probably damaging Het
Hcrtr1 A G 4: 130,029,487 (GRCm39) L198P probably damaging Het
Ifngr1 T A 10: 19,479,690 (GRCm39) probably benign Het
Ipo5 T C 14: 121,181,769 (GRCm39) V954A possibly damaging Het
Kcnh5 G T 12: 75,012,035 (GRCm39) A628D probably damaging Het
Kif14 T C 1: 136,410,210 (GRCm39) S646P probably damaging Het
Ksr1 A G 11: 78,935,966 (GRCm39) S133P probably damaging Het
Nelfa G A 5: 34,059,169 (GRCm39) P229S probably damaging Het
Nfatc2 T C 2: 168,413,119 (GRCm39) T169A probably damaging Het
Nr1h4 A G 10: 89,292,429 (GRCm39) Y398H probably damaging Het
Nrcam A G 12: 44,610,815 (GRCm39) E511G probably damaging Het
Ocstamp T A 2: 165,239,671 (GRCm39) R172W probably damaging Het
Or10ag60 A G 2: 87,438,338 (GRCm39) E202G probably damaging Het
Or8d1 T A 9: 38,766,766 (GRCm39) M136K probably damaging Het
Or8g19 T C 9: 39,056,017 (GRCm39) V207A probably benign Het
Phf14 G A 6: 11,961,577 (GRCm39) V405I possibly damaging Het
Plk5 G A 10: 80,196,057 (GRCm39) R238H probably damaging Het
Pole A G 5: 110,465,792 (GRCm39) E1240G probably benign Het
Prdm15 A G 16: 97,598,961 (GRCm39) I899T possibly damaging Het
Psip1 T C 4: 83,376,381 (GRCm39) N486S probably benign Het
Rlf A G 4: 121,028,030 (GRCm39) probably benign Het
Rttn T C 18: 88,997,759 (GRCm39) S255P probably damaging Het
Rusf1 A G 7: 127,896,642 (GRCm39) L134P probably damaging Het
Sema6c A G 3: 95,079,934 (GRCm39) K711E probably damaging Het
Slc4a10 A T 2: 62,021,237 (GRCm39) probably benign Het
Trim36 T G 18: 46,305,643 (GRCm39) S435R probably benign Het
Ucp1 A G 8: 84,018,232 (GRCm39) probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn1r23 A G 6: 57,903,349 (GRCm39) V143A probably benign Het
Wdfy4 T A 14: 32,763,131 (GRCm39) Q2166L probably benign Het
Zc3h7b C T 15: 81,661,199 (GRCm39) T346M possibly damaging Het
Zfhx4 T A 3: 5,467,693 (GRCm39) V2617D probably damaging Het
Other mutations in Neb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Neb APN 2 52,198,759 (GRCm39) missense possibly damaging 0.55
IGL00232:Neb APN 2 52,125,568 (GRCm39) missense possibly damaging 0.83
IGL00501:Neb APN 2 52,185,356 (GRCm39) missense probably benign 0.02
IGL00548:Neb APN 2 52,133,984 (GRCm39) missense probably benign 0.33
IGL00556:Neb APN 2 52,081,961 (GRCm39) missense probably benign 0.16
IGL00561:Neb APN 2 52,096,117 (GRCm39) missense probably benign 0.00
IGL00598:Neb APN 2 52,098,313 (GRCm39) missense possibly damaging 0.62
IGL00788:Neb APN 2 52,095,744 (GRCm39) splice site probably benign
IGL00817:Neb APN 2 52,133,207 (GRCm39) missense probably damaging 1.00
IGL00926:Neb APN 2 52,160,329 (GRCm39) splice site probably benign
IGL00975:Neb APN 2 52,102,740 (GRCm39) missense probably benign 0.01
IGL01012:Neb APN 2 52,086,373 (GRCm39) missense probably benign
IGL01014:Neb APN 2 52,177,170 (GRCm39) missense probably benign 0.11
IGL01419:Neb APN 2 52,116,545 (GRCm39) nonsense probably null
IGL01420:Neb APN 2 52,047,389 (GRCm39) missense probably damaging 1.00
IGL01459:Neb APN 2 52,066,804 (GRCm39) missense probably damaging 1.00
IGL01467:Neb APN 2 52,049,499 (GRCm39) missense possibly damaging 0.55
IGL01474:Neb APN 2 52,218,917 (GRCm39) missense unknown
IGL01506:Neb APN 2 52,137,202 (GRCm39) missense probably damaging 1.00
IGL01544:Neb APN 2 52,182,917 (GRCm39) missense possibly damaging 0.62
IGL01608:Neb APN 2 52,060,548 (GRCm39) missense probably damaging 1.00
IGL01681:Neb APN 2 52,091,498 (GRCm39) missense probably damaging 1.00
IGL01717:Neb APN 2 52,079,879 (GRCm39) missense probably damaging 1.00
IGL01743:Neb APN 2 52,115,679 (GRCm39) missense probably damaging 1.00
IGL01774:Neb APN 2 52,112,982 (GRCm39) nonsense probably null
IGL01787:Neb APN 2 52,186,367 (GRCm39) missense possibly damaging 0.56
IGL01822:Neb APN 2 52,148,758 (GRCm39) missense possibly damaging 0.68
IGL01844:Neb APN 2 52,060,561 (GRCm39) missense probably benign 0.01
IGL01871:Neb APN 2 52,043,081 (GRCm39) missense probably damaging 0.99
IGL01878:Neb APN 2 52,059,852 (GRCm39) splice site probably benign
IGL01886:Neb APN 2 52,073,857 (GRCm39) splice site probably benign
IGL01897:Neb APN 2 52,170,587 (GRCm39) missense possibly damaging 0.88
IGL02025:Neb APN 2 52,197,751 (GRCm39) missense probably benign 0.17
IGL02133:Neb APN 2 52,102,816 (GRCm39) splice site probably null
IGL02143:Neb APN 2 52,181,211 (GRCm39) missense probably damaging 0.99
IGL02212:Neb APN 2 52,198,323 (GRCm39) missense probably damaging 1.00
IGL02216:Neb APN 2 52,116,502 (GRCm39) missense probably benign 0.00
IGL02260:Neb APN 2 52,095,668 (GRCm39) missense probably damaging 1.00
IGL02364:Neb APN 2 52,186,266 (GRCm39) nonsense probably null
IGL02424:Neb APN 2 52,154,203 (GRCm39) missense probably damaging 1.00
IGL02449:Neb APN 2 52,091,918 (GRCm39) missense probably benign 0.00
IGL02465:Neb APN 2 52,083,177 (GRCm39) unclassified probably benign
IGL02475:Neb APN 2 52,182,831 (GRCm39) missense probably damaging 1.00
IGL02486:Neb APN 2 52,172,615 (GRCm39) missense possibly damaging 0.86
IGL02527:Neb APN 2 52,039,225 (GRCm39) missense probably benign 0.36
IGL02527:Neb APN 2 52,153,959 (GRCm39) missense probably damaging 1.00
IGL02547:Neb APN 2 52,078,742 (GRCm39) missense probably damaging 1.00
IGL02648:Neb APN 2 52,161,093 (GRCm39) missense possibly damaging 0.79
IGL02685:Neb APN 2 52,065,313 (GRCm39) missense possibly damaging 0.93
IGL02695:Neb APN 2 52,101,608 (GRCm39) splice site probably benign
IGL02695:Neb APN 2 52,145,603 (GRCm39) missense probably damaging 1.00
IGL02731:Neb APN 2 52,050,715 (GRCm39) missense probably damaging 1.00
IGL02738:Neb APN 2 52,133,862 (GRCm39) missense probably damaging 0.99
IGL02750:Neb APN 2 52,181,067 (GRCm39) missense probably benign 0.00
IGL02879:Neb APN 2 52,146,697 (GRCm39) missense possibly damaging 0.95
IGL02887:Neb APN 2 52,090,733 (GRCm39) missense possibly damaging 0.67
IGL02975:Neb APN 2 52,188,879 (GRCm39) missense probably damaging 0.99
IGL03009:Neb APN 2 52,069,468 (GRCm39) splice site probably benign
IGL03036:Neb APN 2 52,134,165 (GRCm39) missense probably damaging 1.00
IGL03076:Neb APN 2 52,059,100 (GRCm39) missense probably damaging 0.99
IGL03091:Neb APN 2 52,161,324 (GRCm39) missense probably benign 0.08
IGL03095:Neb APN 2 52,059,100 (GRCm39) missense probably damaging 0.99
IGL03096:Neb APN 2 52,139,484 (GRCm39) missense possibly damaging 0.59
IGL03107:Neb APN 2 52,073,837 (GRCm39) missense probably benign 0.41
IGL03171:Neb APN 2 52,106,376 (GRCm39) splice site probably benign
IGL03179:Neb APN 2 52,066,653 (GRCm39) missense probably damaging 1.00
IGL03186:Neb APN 2 52,100,671 (GRCm39) splice site probably benign
IGL03186:Neb APN 2 52,059,100 (GRCm39) missense probably damaging 0.99
IGL03187:Neb APN 2 52,059,100 (GRCm39) missense probably damaging 0.99
IGL03209:Neb APN 2 52,180,831 (GRCm39) missense probably damaging 1.00
IGL03214:Neb APN 2 52,087,856 (GRCm39) missense possibly damaging 0.75
IGL03214:Neb APN 2 52,049,560 (GRCm39) missense probably damaging 1.00
IGL03233:Neb APN 2 52,198,313 (GRCm39) missense possibly damaging 0.93
IGL03287:Neb APN 2 52,027,335 (GRCm39) missense probably damaging 1.00
IGL03349:Neb APN 2 52,168,964 (GRCm39) missense possibly damaging 0.88
IGL03369:Neb APN 2 52,068,049 (GRCm39) missense probably benign
IGL03382:Neb APN 2 52,215,720 (GRCm39) missense probably benign 0.00
IGL03410:Neb APN 2 52,209,717 (GRCm39) missense probably benign 0.00
IGL03411:Neb APN 2 52,182,890 (GRCm39) missense probably benign
Crocque UTSW 2 52,148,188 (GRCm39) missense probably damaging 1.00
Fraulein UTSW 2 52,188,906 (GRCm39) missense probably damaging 1.00
mademoiselle UTSW 2 52,097,737 (GRCm39) missense probably damaging 0.99
monsieur UTSW 2 52,195,295 (GRCm39) critical splice donor site probably null
old_folks UTSW 2 52,101,568 (GRCm39) missense probably damaging 0.96
teenage UTSW 2 52,161,309 (GRCm39) critical splice donor site probably null
wedding UTSW 2 52,182,707 (GRCm39) missense possibly damaging 0.89
G1Funyon:Neb UTSW 2 52,178,847 (GRCm39) missense probably benign 0.04
IGL03054:Neb UTSW 2 52,161,334 (GRCm39) missense probably damaging 1.00
PIT4354001:Neb UTSW 2 52,135,330 (GRCm39) missense probably damaging 0.99
PIT4495001:Neb UTSW 2 52,102,748 (GRCm39) missense probably benign 0.00
PIT4581001:Neb UTSW 2 52,178,814 (GRCm39) missense probably damaging 0.98
R0014:Neb UTSW 2 52,177,168 (GRCm39) missense probably damaging 0.99
R0014:Neb UTSW 2 52,177,168 (GRCm39) missense probably damaging 0.99
R0025:Neb UTSW 2 52,112,786 (GRCm39) missense probably damaging 0.99
R0049:Neb UTSW 2 52,060,479 (GRCm39) missense possibly damaging 0.86
R0049:Neb UTSW 2 52,060,479 (GRCm39) missense possibly damaging 0.86
R0052:Neb UTSW 2 52,163,992 (GRCm39) missense possibly damaging 0.62
R0066:Neb UTSW 2 52,196,542 (GRCm39) missense probably damaging 1.00
R0066:Neb UTSW 2 52,196,542 (GRCm39) missense probably damaging 1.00
R0097:Neb UTSW 2 52,094,906 (GRCm39) missense probably damaging 1.00
R0097:Neb UTSW 2 52,094,906 (GRCm39) missense probably damaging 1.00
R0110:Neb UTSW 2 52,180,755 (GRCm39) splice site probably benign
R0147:Neb UTSW 2 52,139,388 (GRCm39) missense probably damaging 0.99
R0148:Neb UTSW 2 52,139,388 (GRCm39) missense probably damaging 0.99
R0173:Neb UTSW 2 52,133,859 (GRCm39) missense probably damaging 1.00
R0201:Neb UTSW 2 52,096,890 (GRCm39) splice site probably benign
R0254:Neb UTSW 2 52,133,402 (GRCm39) missense probably damaging 1.00
R0295:Neb UTSW 2 52,174,297 (GRCm39) missense possibly damaging 0.90
R0314:Neb UTSW 2 52,133,343 (GRCm39) missense probably benign 0.01
R0316:Neb UTSW 2 52,085,482 (GRCm39) missense possibly damaging 0.96
R0380:Neb UTSW 2 52,122,214 (GRCm39) missense probably damaging 1.00
R0389:Neb UTSW 2 52,051,489 (GRCm39) critical splice acceptor site probably null
R0394:Neb UTSW 2 52,067,571 (GRCm39) splice site probably null
R0401:Neb UTSW 2 52,078,689 (GRCm39) splice site probably benign
R0413:Neb UTSW 2 52,180,751 (GRCm39) splice site probably benign
R0427:Neb UTSW 2 52,134,081 (GRCm39) missense probably damaging 0.98
R0427:Neb UTSW 2 52,133,896 (GRCm39) missense possibly damaging 0.83
R0443:Neb UTSW 2 52,051,489 (GRCm39) critical splice acceptor site probably null
R0453:Neb UTSW 2 52,203,902 (GRCm39) splice site probably null
R0468:Neb UTSW 2 52,101,568 (GRCm39) missense probably damaging 0.96
R0510:Neb UTSW 2 52,180,755 (GRCm39) splice site probably benign
R0513:Neb UTSW 2 52,198,699 (GRCm39) missense probably damaging 0.98
R0605:Neb UTSW 2 52,154,038 (GRCm39) missense possibly damaging 0.92
R0608:Neb UTSW 2 52,216,769 (GRCm39) missense probably benign 0.19
R0622:Neb UTSW 2 52,102,963 (GRCm39) missense probably benign 0.09
R0639:Neb UTSW 2 52,146,136 (GRCm39) missense possibly damaging 0.47
R0656:Neb UTSW 2 52,115,570 (GRCm39) splice site probably benign
R0670:Neb UTSW 2 52,146,136 (GRCm39) missense possibly damaging 0.47
R0673:Neb UTSW 2 52,146,136 (GRCm39) missense possibly damaging 0.47
R0732:Neb UTSW 2 52,181,280 (GRCm39) missense probably damaging 1.00
R0732:Neb UTSW 2 52,148,693 (GRCm39) missense probably damaging 1.00
R0736:Neb UTSW 2 52,082,024 (GRCm39) missense probably damaging 1.00
R0764:Neb UTSW 2 52,106,879 (GRCm39) unclassified probably benign
R0811:Neb UTSW 2 52,182,707 (GRCm39) missense possibly damaging 0.89
R0812:Neb UTSW 2 52,182,707 (GRCm39) missense possibly damaging 0.89
R0839:Neb UTSW 2 52,167,560 (GRCm39) missense probably damaging 0.99
R0960:Neb UTSW 2 52,102,995 (GRCm39) missense probably benign 0.17
R1026:Neb UTSW 2 52,154,122 (GRCm39) missense possibly damaging 0.93
R1076:Neb UTSW 2 52,094,904 (GRCm39) missense probably damaging 1.00
R1170:Neb UTSW 2 52,086,369 (GRCm39) missense probably damaging 1.00
R1184:Neb UTSW 2 52,153,959 (GRCm39) missense probably damaging 1.00
R1185:Neb UTSW 2 52,186,310 (GRCm39) missense probably damaging 1.00
R1185:Neb UTSW 2 52,186,310 (GRCm39) missense probably damaging 1.00
R1185:Neb UTSW 2 52,186,310 (GRCm39) missense probably damaging 1.00
R1200:Neb UTSW 2 52,057,657 (GRCm39) missense probably damaging 1.00
R1205:Neb UTSW 2 52,112,996 (GRCm39) missense probably damaging 0.97
R1208:Neb UTSW 2 52,193,912 (GRCm39) nonsense probably null
R1208:Neb UTSW 2 52,193,912 (GRCm39) nonsense probably null
R1229:Neb UTSW 2 52,133,955 (GRCm39) missense probably damaging 1.00
R1240:Neb UTSW 2 52,186,321 (GRCm39) missense possibly damaging 0.92
R1374:Neb UTSW 2 52,133,401 (GRCm39) missense probably damaging 1.00
R1381:Neb UTSW 2 52,150,544 (GRCm39) missense probably damaging 1.00
R1397:Neb UTSW 2 52,133,955 (GRCm39) missense probably damaging 1.00
R1398:Neb UTSW 2 52,179,658 (GRCm39) missense probably damaging 1.00
R1404:Neb UTSW 2 52,073,287 (GRCm39) missense possibly damaging 0.95
R1404:Neb UTSW 2 52,073,287 (GRCm39) missense possibly damaging 0.95
R1452:Neb UTSW 2 52,161,309 (GRCm39) critical splice donor site probably null
R1467:Neb UTSW 2 52,120,059 (GRCm39) missense probably damaging 1.00
R1467:Neb UTSW 2 52,120,059 (GRCm39) missense probably damaging 1.00
R1477:Neb UTSW 2 52,154,134 (GRCm39) missense probably damaging 0.99
R1478:Neb UTSW 2 52,065,619 (GRCm39) missense probably benign 0.29
R1496:Neb UTSW 2 52,218,746 (GRCm39) missense probably damaging 0.99
R1503:Neb UTSW 2 52,188,632 (GRCm39) missense probably damaging 0.96
R1513:Neb UTSW 2 52,117,256 (GRCm39) missense probably damaging 1.00
R1600:Neb UTSW 2 52,161,616 (GRCm39) missense probably damaging 1.00
R1601:Neb UTSW 2 52,177,264 (GRCm39) nonsense probably null
R1638:Neb UTSW 2 52,139,293 (GRCm39) missense probably benign 0.05
R1712:Neb UTSW 2 52,133,401 (GRCm39) missense probably damaging 1.00
R1717:Neb UTSW 2 52,198,759 (GRCm39) missense possibly damaging 0.55
R1720:Neb UTSW 2 52,097,733 (GRCm39) missense probably benign 0.02
R1722:Neb UTSW 2 52,146,757 (GRCm39) missense probably damaging 1.00
R1765:Neb UTSW 2 52,094,676 (GRCm39) missense probably damaging 1.00
R1772:Neb UTSW 2 52,125,689 (GRCm39) missense probably damaging 1.00
R1782:Neb UTSW 2 52,174,357 (GRCm39) nonsense probably null
R1834:Neb UTSW 2 52,126,907 (GRCm39) missense probably damaging 1.00
R1847:Neb UTSW 2 52,086,307 (GRCm39) missense possibly damaging 0.80
R1852:Neb UTSW 2 52,118,554 (GRCm39) missense probably damaging 0.98
R1862:Neb UTSW 2 52,052,199 (GRCm39) splice site probably null
R1864:Neb UTSW 2 52,102,772 (GRCm39) nonsense probably null
R1868:Neb UTSW 2 52,216,756 (GRCm39) missense probably damaging 0.99
R1880:Neb UTSW 2 52,148,743 (GRCm39) missense probably damaging 0.98
R1906:Neb UTSW 2 52,198,538 (GRCm39) missense probably damaging 1.00
R1926:Neb UTSW 2 52,169,647 (GRCm39) missense probably damaging 1.00
R1944:Neb UTSW 2 52,118,862 (GRCm39) missense probably benign 0.23
R1962:Neb UTSW 2 52,162,949 (GRCm39) nonsense probably null
R1970:Neb UTSW 2 52,153,917 (GRCm39) missense possibly damaging 0.77
R1978:Neb UTSW 2 52,177,357 (GRCm39) missense probably damaging 1.00
R1995:Neb UTSW 2 52,188,744 (GRCm39) missense probably damaging 1.00
R2000:Neb UTSW 2 52,102,982 (GRCm39) nonsense probably null
R2006:Neb UTSW 2 52,089,456 (GRCm39) missense probably null 1.00
R2019:Neb UTSW 2 52,122,288 (GRCm39) nonsense probably null
R2034:Neb UTSW 2 52,170,623 (GRCm39) missense possibly damaging 0.78
R2067:Neb UTSW 2 52,174,275 (GRCm39) missense probably benign 0.16
R2104:Neb UTSW 2 52,161,570 (GRCm39) missense probably damaging 1.00
R2104:Neb UTSW 2 52,146,826 (GRCm39) missense probably benign 0.14
R2111:Neb UTSW 2 52,174,275 (GRCm39) missense probably benign 0.16
R2112:Neb UTSW 2 52,218,776 (GRCm39) missense probably damaging 1.00
R2120:Neb UTSW 2 52,154,076 (GRCm39) missense probably damaging 1.00
R2121:Neb UTSW 2 52,154,076 (GRCm39) missense probably damaging 1.00
R2124:Neb UTSW 2 52,154,076 (GRCm39) missense probably damaging 1.00
R2125:Neb UTSW 2 52,200,650 (GRCm39) missense probably damaging 1.00
R2126:Neb UTSW 2 52,200,650 (GRCm39) missense probably damaging 1.00
R2139:Neb UTSW 2 52,102,600 (GRCm39) missense probably damaging 0.99
R2207:Neb UTSW 2 52,101,579 (GRCm39) nonsense probably null
R2228:Neb UTSW 2 52,123,007 (GRCm39) missense probably benign 0.19
R2352:Neb UTSW 2 52,177,348 (GRCm39) missense probably damaging 1.00
R2374:Neb UTSW 2 52,153,669 (GRCm39) missense probably damaging 1.00
R2413:Neb UTSW 2 52,100,644 (GRCm39) missense probably damaging 1.00
R2424:Neb UTSW 2 52,099,671 (GRCm39) splice site probably benign
R2426:Neb UTSW 2 52,059,065 (GRCm39) splice site probably null
R2508:Neb UTSW 2 52,085,533 (GRCm39) missense probably benign 0.23
R2512:Neb UTSW 2 52,100,843 (GRCm39) missense probably damaging 0.99
R2518:Neb UTSW 2 52,139,523 (GRCm39) nonsense probably null
R2899:Neb UTSW 2 52,075,335 (GRCm39) missense probably benign
R3500:Neb UTSW 2 52,215,797 (GRCm39) missense probably damaging 1.00
R3690:Neb UTSW 2 52,027,397 (GRCm39) missense probably damaging 1.00
R3716:Neb UTSW 2 52,167,482 (GRCm39) missense probably damaging 1.00
R3717:Neb UTSW 2 52,167,482 (GRCm39) missense probably damaging 1.00
R3718:Neb UTSW 2 52,167,482 (GRCm39) missense probably damaging 1.00
R3786:Neb UTSW 2 52,091,927 (GRCm39) missense probably damaging 1.00
R3809:Neb UTSW 2 52,146,801 (GRCm39) missense possibly damaging 0.73
R3840:Neb UTSW 2 52,097,672 (GRCm39) critical splice donor site probably null
R3841:Neb UTSW 2 52,097,672 (GRCm39) critical splice donor site probably null
R3956:Neb UTSW 2 52,091,975 (GRCm39) missense possibly damaging 0.62
R3958:Neb UTSW 2 52,153,641 (GRCm39) missense probably damaging 1.00
R4057:Neb UTSW 2 52,096,711 (GRCm39) missense possibly damaging 0.89
R4057:Neb UTSW 2 52,127,120 (GRCm39) missense probably benign 0.32
R4110:Neb UTSW 2 52,134,137 (GRCm39) missense probably damaging 1.00
R4110:Neb UTSW 2 52,038,778 (GRCm39) missense probably benign 0.10
R4128:Neb UTSW 2 52,182,712 (GRCm39) missense probably damaging 1.00
R4195:Neb UTSW 2 52,180,847 (GRCm39) missense probably damaging 1.00
R4195:Neb UTSW 2 52,161,571 (GRCm39) missense probably damaging 1.00
R4288:Neb UTSW 2 52,149,312 (GRCm39) missense probably damaging 1.00
R4323:Neb UTSW 2 52,154,122 (GRCm39) missense possibly damaging 0.93
R4394:Neb UTSW 2 52,077,525 (GRCm39) nonsense probably null
R4463:Neb UTSW 2 52,169,734 (GRCm39) frame shift probably null
R4527:Neb UTSW 2 52,083,249 (GRCm39) missense probably benign 0.42
R4561:Neb UTSW 2 52,176,167 (GRCm39) missense probably damaging 1.00
R4612:Neb UTSW 2 52,177,255 (GRCm39) missense probably damaging 0.99
R4621:Neb UTSW 2 52,161,051 (GRCm39) nonsense probably null
R4628:Neb UTSW 2 52,198,362 (GRCm39) nonsense probably null
R4655:Neb UTSW 2 52,117,311 (GRCm39) missense probably damaging 0.98
R4660:Neb UTSW 2 52,145,600 (GRCm39) missense possibly damaging 0.85
R4683:Neb UTSW 2 52,134,074 (GRCm39) missense possibly damaging 0.89
R4687:Neb UTSW 2 52,194,047 (GRCm39) missense possibly damaging 0.95
R4690:Neb UTSW 2 52,134,087 (GRCm39) missense probably benign 0.25
R4710:Neb UTSW 2 52,150,610 (GRCm39) missense probably benign 0.32
R4729:Neb UTSW 2 52,153,674 (GRCm39) missense possibly damaging 0.80
R4732:Neb UTSW 2 52,169,091 (GRCm39) missense probably damaging 1.00
R4733:Neb UTSW 2 52,169,091 (GRCm39) missense probably damaging 1.00
R4738:Neb UTSW 2 52,077,494 (GRCm39) missense probably damaging 1.00
R4744:Neb UTSW 2 52,040,589 (GRCm39) missense probably benign 0.29
R4755:Neb UTSW 2 52,110,221 (GRCm39) missense probably damaging 1.00
R4756:Neb UTSW 2 52,083,243 (GRCm39) missense probably damaging 0.96
R4763:Neb UTSW 2 52,216,732 (GRCm39) nonsense probably null
R4763:Neb UTSW 2 52,127,052 (GRCm39) nonsense probably null
R4770:Neb UTSW 2 52,039,165 (GRCm39) missense probably benign 0.00
R4801:Neb UTSW 2 52,090,715 (GRCm39) missense possibly damaging 0.65
R4802:Neb UTSW 2 52,090,715 (GRCm39) missense possibly damaging 0.65
R4824:Neb UTSW 2 52,094,891 (GRCm39) missense possibly damaging 0.86
R4830:Neb UTSW 2 52,082,532 (GRCm39) missense probably damaging 0.99
R4855:Neb UTSW 2 52,188,906 (GRCm39) missense probably damaging 1.00
R4857:Neb UTSW 2 52,091,992 (GRCm39) missense probably damaging 1.00
R4878:Neb UTSW 2 52,109,406 (GRCm39) missense probably damaging 1.00
R4885:Neb UTSW 2 52,176,058 (GRCm39) missense probably damaging 1.00
R4888:Neb UTSW 2 52,186,319 (GRCm39) missense probably benign 0.17
R4928:Neb UTSW 2 52,102,987 (GRCm39) missense possibly damaging 0.79
R4954:Neb UTSW 2 52,067,530 (GRCm39) splice site probably null
R4974:Neb UTSW 2 52,136,871 (GRCm39) missense probably damaging 1.00
R4979:Neb UTSW 2 52,079,921 (GRCm39) missense probably damaging 1.00
R4983:Neb UTSW 2 52,106,273 (GRCm39) missense probably damaging 0.99
R4990:Neb UTSW 2 52,145,558 (GRCm39) missense probably benign
R5026:Neb UTSW 2 52,094,892 (GRCm39) missense possibly damaging 0.94
R5030:Neb UTSW 2 52,224,504 (GRCm39) start gained probably benign
R5062:Neb UTSW 2 52,170,513 (GRCm39) missense possibly damaging 0.94
R5063:Neb UTSW 2 52,113,224 (GRCm39) intron probably benign
R5099:Neb UTSW 2 52,085,460 (GRCm39) missense probably damaging 1.00
R5102:Neb UTSW 2 52,116,582 (GRCm39) missense possibly damaging 0.70
R5124:Neb UTSW 2 52,171,510 (GRCm39) missense probably damaging 1.00
R5150:Neb UTSW 2 52,059,130 (GRCm39) missense probably benign 0.09
R5217:Neb UTSW 2 52,052,142 (GRCm39) nonsense probably null
R5280:Neb UTSW 2 52,037,168 (GRCm39) missense probably damaging 1.00
R5288:Neb UTSW 2 52,079,873 (GRCm39) missense probably damaging 0.99
R5314:Neb UTSW 2 52,171,515 (GRCm39) missense probably benign 0.22
R5340:Neb UTSW 2 52,113,060 (GRCm39) missense probably damaging 1.00
R5375:Neb UTSW 2 52,102,596 (GRCm39) missense possibly damaging 0.75
R5385:Neb UTSW 2 52,079,873 (GRCm39) missense probably damaging 0.99
R5411:Neb UTSW 2 52,185,384 (GRCm39) missense probably damaging 0.98
R5470:Neb UTSW 2 52,139,450 (GRCm39) missense possibly damaging 0.88
R5500:Neb UTSW 2 52,052,079 (GRCm39) critical splice donor site probably null
R5523:Neb UTSW 2 52,168,827 (GRCm39) missense probably benign
R5527:Neb UTSW 2 52,224,465 (GRCm39) missense unknown
R5622:Neb UTSW 2 52,160,281 (GRCm39) missense probably damaging 0.96
R5625:Neb UTSW 2 52,067,547 (GRCm39) nonsense probably null
R5688:Neb UTSW 2 52,086,339 (GRCm39) missense probably damaging 1.00
R5715:Neb UTSW 2 52,141,780 (GRCm39) missense probably damaging 1.00
R5716:Neb UTSW 2 52,100,596 (GRCm39) missense probably benign
R5760:Neb UTSW 2 52,073,830 (GRCm39) missense probably damaging 1.00
R5779:Neb UTSW 2 52,135,313 (GRCm39) missense probably damaging 0.99
R5782:Neb UTSW 2 52,154,059 (GRCm39) nonsense probably null
R5862:Neb UTSW 2 52,069,554 (GRCm39) nonsense probably null
R5905:Neb UTSW 2 52,083,243 (GRCm39) missense probably damaging 0.99
R5918:Neb UTSW 2 52,087,906 (GRCm39) missense probably damaging 1.00
R5939:Neb UTSW 2 52,147,606 (GRCm39) missense probably benign
R5959:Neb UTSW 2 52,046,389 (GRCm39) missense probably benign 0.22
R5976:Neb UTSW 2 52,106,928 (GRCm39) missense possibly damaging 0.88
R5987:Neb UTSW 2 52,185,306 (GRCm39) missense probably benign 0.10
R6020:Neb UTSW 2 52,147,839 (GRCm39) missense probably benign 0.05
R6028:Neb UTSW 2 52,083,243 (GRCm39) missense probably damaging 0.99
R6045:Neb UTSW 2 52,084,437 (GRCm39) splice site probably null
R6062:Neb UTSW 2 52,075,293 (GRCm39) missense probably benign 0.05
R6088:Neb UTSW 2 52,099,354 (GRCm39) missense probably damaging 1.00
R6093:Neb UTSW 2 52,141,782 (GRCm39) nonsense probably null
R6119:Neb UTSW 2 52,110,943 (GRCm39) missense probably benign 0.36
R6167:Neb UTSW 2 52,037,249 (GRCm39) missense probably benign 0.12
R6192:Neb UTSW 2 52,146,802 (GRCm39) missense probably benign 0.00
R6216:Neb UTSW 2 52,114,564 (GRCm39) missense probably benign 0.45
R6220:Neb UTSW 2 52,160,984 (GRCm39) missense probably null 0.00
R6239:Neb UTSW 2 52,164,000 (GRCm39) missense probably benign
R6242:Neb UTSW 2 52,066,824 (GRCm39) missense probably damaging 1.00
R6254:Neb UTSW 2 52,112,973 (GRCm39) missense probably benign 0.01
R6262:Neb UTSW 2 52,198,699 (GRCm39) missense probably damaging 0.98
R6305:Neb UTSW 2 52,141,775 (GRCm39) nonsense probably null
R6319:Neb UTSW 2 52,053,023 (GRCm39) critical splice acceptor site probably null
R6333:Neb UTSW 2 52,148,275 (GRCm39) missense probably damaging 1.00
R6341:Neb UTSW 2 52,099,486 (GRCm39) missense probably damaging 1.00
R6362:Neb UTSW 2 52,102,704 (GRCm39) missense probably benign 0.01
R6378:Neb UTSW 2 52,183,733 (GRCm39) missense probably damaging 1.00
R6385:Neb UTSW 2 52,075,311 (GRCm39) missense probably damaging 0.99
R6404:Neb UTSW 2 52,097,737 (GRCm39) missense probably damaging 0.99
R6416:Neb UTSW 2 52,075,340 (GRCm39) missense probably benign 0.10
R6437:Neb UTSW 2 52,147,569 (GRCm39) splice site probably null
R6448:Neb UTSW 2 52,038,826 (GRCm39) missense probably damaging 1.00
R6450:Neb UTSW 2 52,084,481 (GRCm39) nonsense probably null
R6452:Neb UTSW 2 52,069,495 (GRCm39) missense probably benign 0.00
R6455:Neb UTSW 2 52,057,656 (GRCm39) nonsense probably null
R6474:Neb UTSW 2 52,170,624 (GRCm39) missense probably benign 0.00
R6497:Neb UTSW 2 52,148,301 (GRCm39) missense possibly damaging 0.53
R6502:Neb UTSW 2 52,181,094 (GRCm39) missense probably benign 0.34
R6572:Neb UTSW 2 52,168,859 (GRCm39) missense probably damaging 1.00
R6617:Neb UTSW 2 52,097,759 (GRCm39) missense probably damaging 1.00
R6659:Neb UTSW 2 52,124,365 (GRCm39) missense probably damaging 1.00
R6667:Neb UTSW 2 52,037,201 (GRCm39) missense probably damaging 1.00
R6701:Neb UTSW 2 52,181,220 (GRCm39) missense probably damaging 1.00
R6711:Neb UTSW 2 52,146,299 (GRCm39) missense probably damaging 1.00
R6711:Neb UTSW 2 52,113,076 (GRCm39) missense probably benign 0.22
R6861:Neb UTSW 2 52,085,732 (GRCm39) missense probably damaging 1.00
R6872:Neb UTSW 2 52,183,657 (GRCm39) missense probably damaging 0.99
R6886:Neb UTSW 2 52,110,236 (GRCm39) missense probably damaging 1.00
R6923:Neb UTSW 2 52,076,076 (GRCm39) missense probably damaging 0.97
R7025:Neb UTSW 2 52,186,285 (GRCm39) missense possibly damaging 0.94
R7050:Neb UTSW 2 52,112,888 (GRCm39) missense possibly damaging 0.67
R7091:Neb UTSW 2 52,146,124 (GRCm39) missense
R7095:Neb UTSW 2 52,067,635 (GRCm39) missense possibly damaging 0.95
R7102:Neb UTSW 2 52,194,067 (GRCm39) missense probably damaging 1.00
R7114:Neb UTSW 2 52,082,571 (GRCm39) missense probably damaging 1.00
R7152:Neb UTSW 2 52,153,557 (GRCm39) missense probably damaging 1.00
R7156:Neb UTSW 2 52,195,295 (GRCm39) critical splice donor site probably null
R7161:Neb UTSW 2 52,161,604 (GRCm39) missense probably damaging 1.00
R7165:Neb UTSW 2 52,160,318 (GRCm39) missense probably damaging 1.00
R7199:Neb UTSW 2 52,110,212 (GRCm39) missense probably benign 0.01
R7205:Neb UTSW 2 52,086,368 (GRCm39) missense probably damaging 1.00
R7224:Neb UTSW 2 52,224,671 (GRCm39) splice site probably null
R7247:Neb UTSW 2 52,148,753 (GRCm39) missense probably damaging 1.00
R7252:Neb UTSW 2 52,214,973 (GRCm39) critical splice donor site probably null
R7275:Neb UTSW 2 52,096,956 (GRCm39) missense probably benign 0.30
R7284:Neb UTSW 2 52,148,804 (GRCm39) missense probably damaging 0.97
R7316:Neb UTSW 2 52,161,450 (GRCm39) missense possibly damaging 0.80
R7330:Neb UTSW 2 52,079,715 (GRCm39) missense possibly damaging 0.89
R7342:Neb UTSW 2 52,171,679 (GRCm39) missense probably damaging 1.00
R7451:Neb UTSW 2 52,091,466 (GRCm39) missense probably benign
R7464:Neb UTSW 2 52,083,902 (GRCm39) missense probably benign 0.02
R7488:Neb UTSW 2 52,110,233 (GRCm39) missense probably benign
R7498:Neb UTSW 2 52,148,188 (GRCm39) missense probably damaging 1.00
R7513:Neb UTSW 2 52,099,552 (GRCm39) missense possibly damaging 0.83
R7527:Neb UTSW 2 52,066,635 (GRCm39) missense probably damaging 1.00
R7533:Neb UTSW 2 52,114,578 (GRCm39) missense
R7535:Neb UTSW 2 52,055,115 (GRCm39) splice site probably null
R7538:Neb UTSW 2 52,146,587 (GRCm39) splice site probably null
R7547:Neb UTSW 2 52,172,637 (GRCm39) missense probably benign 0.00
R7552:Neb UTSW 2 52,137,202 (GRCm39) missense
R7582:Neb UTSW 2 52,224,504 (GRCm39) start gained probably benign
R7590:Neb UTSW 2 52,133,854 (GRCm39) missense probably damaging 1.00
R7606:Neb UTSW 2 52,116,456 (GRCm39) missense
R7619:Neb UTSW 2 52,186,438 (GRCm39) missense possibly damaging 0.53
R7629:Neb UTSW 2 52,163,973 (GRCm39) missense possibly damaging 0.96
R7660:Neb UTSW 2 52,139,451 (GRCm39) missense
R7663:Neb UTSW 2 52,120,059 (GRCm39) missense
R7678:Neb UTSW 2 52,096,714 (GRCm39) missense probably damaging 1.00
R7693:Neb UTSW 2 52,189,581 (GRCm39) missense probably damaging 0.96
R7728:Neb UTSW 2 52,073,311 (GRCm39) missense probably damaging 1.00
R7750:Neb UTSW 2 52,170,728 (GRCm39) splice site probably null
R7776:Neb UTSW 2 52,097,713 (GRCm39) missense possibly damaging 0.72
R7784:Neb UTSW 2 52,125,500 (GRCm39) missense
R7808:Neb UTSW 2 52,082,035 (GRCm39) missense probably damaging 1.00
R7814:Neb UTSW 2 52,027,392 (GRCm39) missense probably damaging 1.00
R7830:Neb UTSW 2 52,055,201 (GRCm39) missense probably benign 0.04
R7835:Neb UTSW 2 52,040,589 (GRCm39) missense probably benign 0.29
R7836:Neb UTSW 2 52,113,373 (GRCm39) splice site probably null
R7851:Neb UTSW 2 52,043,076 (GRCm39) missense probably benign
R7857:Neb UTSW 2 52,112,996 (GRCm39) missense probably damaging 0.97
R7870:Neb UTSW 2 52,215,761 (GRCm39) missense probably damaging 1.00
R7889:Neb UTSW 2 52,037,681 (GRCm39) missense probably benign 0.00
R7912:Neb UTSW 2 52,110,997 (GRCm39) missense possibly damaging 0.51
R7939:Neb UTSW 2 52,076,073 (GRCm39) missense probably damaging 0.98
R7944:Neb UTSW 2 52,161,360 (GRCm39) missense probably damaging 1.00
R7945:Neb UTSW 2 52,161,360 (GRCm39) missense probably damaging 1.00
R7946:Neb UTSW 2 52,102,746 (GRCm39) missense probably damaging 1.00
R7975:Neb UTSW 2 52,050,678 (GRCm39) missense probably benign 0.01
R8000:Neb UTSW 2 52,178,856 (GRCm39) missense probably damaging 0.99
R8026:Neb UTSW 2 52,113,060 (GRCm39) missense
R8050:Neb UTSW 2 52,111,738 (GRCm39) missense probably benign
R8053:Neb UTSW 2 52,176,029 (GRCm39) missense possibly damaging 0.82
R8114:Neb UTSW 2 52,215,734 (GRCm39) missense possibly damaging 0.88
R8138:Neb UTSW 2 52,065,707 (GRCm39) missense possibly damaging 0.63
R8140:Neb UTSW 2 52,099,552 (GRCm39) missense possibly damaging 0.83
R8152:Neb UTSW 2 52,073,848 (GRCm39) missense probably benign 0.00
R8203:Neb UTSW 2 52,039,259 (GRCm39) nonsense probably null
R8231:Neb UTSW 2 52,125,491 (GRCm39) critical splice donor site probably null
R8293:Neb UTSW 2 52,136,827 (GRCm39) missense probably benign 0.30
R8296:Neb UTSW 2 52,116,601 (GRCm39) missense
R8297:Neb UTSW 2 52,198,775 (GRCm39) missense possibly damaging 0.78
R8301:Neb UTSW 2 52,178,847 (GRCm39) missense probably benign 0.04
R8306:Neb UTSW 2 52,099,657 (GRCm39) missense probably damaging 1.00
R8320:Neb UTSW 2 52,186,343 (GRCm39) missense probably benign 0.00
R8326:Neb UTSW 2 52,111,714 (GRCm39) missense probably damaging 0.99
R8330:Neb UTSW 2 52,117,420 (GRCm39) missense
R8336:Neb UTSW 2 52,163,902 (GRCm39) missense probably damaging 1.00
R8343:Neb UTSW 2 52,198,283 (GRCm39) splice site probably null
R8350:Neb UTSW 2 52,096,194 (GRCm39) missense probably benign 0.31
R8380:Neb UTSW 2 52,087,823 (GRCm39) missense probably benign 0.01
R8395:Neb UTSW 2 52,147,806 (GRCm39) missense probably damaging 0.97
R8395:Neb UTSW 2 52,065,645 (GRCm39) missense probably benign 0.01
R8408:Neb UTSW 2 52,047,923 (GRCm39) missense probably benign 0.32
R8435:Neb UTSW 2 52,157,729 (GRCm39) missense probably benign 0.01
R8442:Neb UTSW 2 52,177,220 (GRCm39) missense probably damaging 0.99
R8450:Neb UTSW 2 52,096,194 (GRCm39) missense probably benign 0.31
R8481:Neb UTSW 2 52,114,597 (GRCm39) missense probably damaging 1.00
R8492:Neb UTSW 2 52,203,224 (GRCm39) missense probably damaging 1.00
R8531:Neb UTSW 2 52,181,074 (GRCm39) missense possibly damaging 0.92
R8550:Neb UTSW 2 52,188,924 (GRCm39) missense probably benign 0.18
R8679:Neb UTSW 2 52,215,051 (GRCm39) missense probably damaging 0.98
R8681:Neb UTSW 2 52,127,048 (GRCm39) missense probably damaging 0.98
R8682:Neb UTSW 2 52,136,857 (GRCm39) missense probably damaging 1.00
R8699:Neb UTSW 2 52,037,246 (GRCm39) missense probably benign
R8699:Neb UTSW 2 52,102,563 (GRCm39) missense probably benign 0.05
R8702:Neb UTSW 2 52,085,717 (GRCm39) missense probably damaging 1.00
R8705:Neb UTSW 2 52,148,795 (GRCm39) missense probably damaging 1.00
R8706:Neb UTSW 2 52,181,326 (GRCm39) missense probably benign
R8717:Neb UTSW 2 52,073,781 (GRCm39) missense probably damaging 0.99
R8746:Neb UTSW 2 52,172,613 (GRCm39) missense probably damaging 1.00
R8749:Neb UTSW 2 52,180,863 (GRCm39) missense probably benign 0.03
R8782:Neb UTSW 2 52,078,785 (GRCm39) missense probably benign 0.00
R8783:Neb UTSW 2 52,148,644 (GRCm39) missense probably damaging 1.00
R8785:Neb UTSW 2 52,059,902 (GRCm39) missense probably damaging 1.00
R8824:Neb UTSW 2 52,106,923 (GRCm39) missense probably damaging 1.00
R8828:Neb UTSW 2 52,084,438 (GRCm39) missense probably damaging 0.99
R8870:Neb UTSW 2 52,051,481 (GRCm39) missense probably damaging 1.00
R8879:Neb UTSW 2 52,125,592 (GRCm39) missense
R8881:Neb UTSW 2 52,096,999 (GRCm39) missense possibly damaging 0.93
R8902:Neb UTSW 2 52,133,222 (GRCm39) missense probably damaging 1.00
R8906:Neb UTSW 2 52,096,259 (GRCm39) missense probably benign 0.05
R8919:Neb UTSW 2 52,127,141 (GRCm39) missense
R8935:Neb UTSW 2 52,141,780 (GRCm39) missense probably damaging 1.00
R8946:Neb UTSW 2 52,041,425 (GRCm39) missense probably damaging 1.00
R9050:Neb UTSW 2 52,079,901 (GRCm39) missense probably damaging 0.99
R9058:Neb UTSW 2 52,075,341 (GRCm39) missense probably benign 0.02
R9114:Neb UTSW 2 52,099,599 (GRCm39) missense probably benign 0.04
R9133:Neb UTSW 2 52,083,256 (GRCm39) missense possibly damaging 0.80
R9137:Neb UTSW 2 52,150,502 (GRCm39) unclassified probably benign
R9149:Neb UTSW 2 52,100,878 (GRCm39) missense possibly damaging 0.84
R9168:Neb UTSW 2 52,085,696 (GRCm39) missense probably damaging 1.00
R9184:Neb UTSW 2 52,218,767 (GRCm39) missense possibly damaging 0.94
R9187:Neb UTSW 2 52,096,115 (GRCm39) missense probably damaging 0.96
R9192:Neb UTSW 2 52,203,847 (GRCm39) missense probably damaging 0.96
R9211:Neb UTSW 2 52,135,360 (GRCm39) missense probably damaging 1.00
R9218:Neb UTSW 2 52,183,638 (GRCm39) critical splice donor site probably null
R9250:Neb UTSW 2 52,168,913 (GRCm39) missense possibly damaging 0.62
R9265:Neb UTSW 2 52,089,456 (GRCm39) missense probably null 1.00
R9275:Neb UTSW 2 52,146,190 (GRCm39) missense probably damaging 1.00
R9278:Neb UTSW 2 52,146,190 (GRCm39) missense probably damaging 1.00
R9288:Neb UTSW 2 52,051,403 (GRCm39) missense probably damaging 1.00
R9310:Neb UTSW 2 52,153,708 (GRCm39) missense probably benign
R9329:Neb UTSW 2 52,160,231 (GRCm39) missense probably benign
R9357:Neb UTSW 2 52,069,580 (GRCm39) critical splice acceptor site probably null
R9366:Neb UTSW 2 52,172,699 (GRCm39) missense probably benign 0.02
R9377:Neb UTSW 2 52,039,291 (GRCm39) critical splice acceptor site probably null
R9377:Neb UTSW 2 52,116,546 (GRCm39) missense
R9378:Neb UTSW 2 52,137,304 (GRCm39) missense
R9378:Neb UTSW 2 52,134,113 (GRCm39) missense possibly damaging 0.53
R9382:Neb UTSW 2 52,122,277 (GRCm39) missense
R9390:Neb UTSW 2 52,065,157 (GRCm39) missense probably benign 0.17
R9404:Neb UTSW 2 52,147,788 (GRCm39) missense probably damaging 1.00
R9416:Neb UTSW 2 52,137,215 (GRCm39) missense
R9424:Neb UTSW 2 52,041,410 (GRCm39) missense probably benign 0.31
R9478:Neb UTSW 2 52,078,788 (GRCm39) missense probably benign 0.09
R9561:Neb UTSW 2 52,132,068 (GRCm39) missense
R9567:Neb UTSW 2 52,065,138 (GRCm39) missense probably damaging 1.00
R9604:Neb UTSW 2 52,182,680 (GRCm39) missense probably benign 0.02
R9641:Neb UTSW 2 52,112,783 (GRCm39) missense
R9673:Neb UTSW 2 52,133,853 (GRCm39) critical splice donor site probably null
R9676:Neb UTSW 2 52,060,558 (GRCm39) missense possibly damaging 0.87
R9709:Neb UTSW 2 52,101,507 (GRCm39) missense probably damaging 0.98
RF001:Neb UTSW 2 52,085,433 (GRCm39) missense probably damaging 1.00
X0021:Neb UTSW 2 52,160,312 (GRCm39) missense probably benign
X0026:Neb UTSW 2 52,133,916 (GRCm39) missense probably benign 0.34
X0027:Neb UTSW 2 52,117,326 (GRCm39) missense probably damaging 1.00
X0065:Neb UTSW 2 52,139,316 (GRCm39) missense possibly damaging 0.95
Z1088:Neb UTSW 2 52,113,164 (GRCm39) missense probably benign 0.00
Z1088:Neb UTSW 2 52,059,884 (GRCm39) missense possibly damaging 0.68
Z1088:Neb UTSW 2 52,198,579 (GRCm39) missense probably damaging 1.00
Z1176:Neb UTSW 2 52,169,643 (GRCm39) critical splice donor site probably null
Z1176:Neb UTSW 2 52,157,794 (GRCm39) missense probably benign 0.26
Z1177:Neb UTSW 2 52,053,010 (GRCm39) missense probably damaging 1.00
Z1177:Neb UTSW 2 52,189,514 (GRCm39) missense probably damaging 0.99
Z1177:Neb UTSW 2 52,146,682 (GRCm39) missense probably damaging 1.00
Z1177:Neb UTSW 2 52,099,419 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AACTGAGCAGATGAATTGATGTTGGGT -3'
(R):5'- CCCATGAACAGAAAATCTTCCGTGCTA -3'

Sequencing Primer
(F):5'- GAAAGCCCTGGTGTACTGAA -3'
(R):5'- AGAAAATCTTCCGTGCTATATATGAC -3'
Posted On 2013-07-11