Incidental Mutation 'R6333:Neb'
ID 513219
Institutional Source Beutler Lab
Gene Symbol Neb
Ensembl Gene ENSMUSG00000026950
Gene Name nebulin
Synonyms
MMRRC Submission 044487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R6333 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 52026652-52228810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52148275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 2657 (L2657P)
Ref Sequence ENSEMBL: ENSMUSP00000047763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036934] [ENSMUST00000075301]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036934
AA Change: L2657P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047763
Gene: ENSMUSG00000026950
AA Change: L2657P

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: L2657P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074773
Gene: ENSMUSG00000026950
AA Change: L2657P

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 probably benign
Transcript: ENSMUST00000139672
SMART Domains Protein: ENSMUSP00000121411
Gene: ENSMUSG00000026950

DomainStartEndE-ValueType
NEBU 2 32 1.21e-5 SMART
NEBU 37 67 8.32e-4 SMART
NEBU 73 103 1.04e-4 SMART
NEBU 111 141 4.06e-7 SMART
NEBU 146 176 3.73e-6 SMART
NEBU 177 207 1.28e-4 SMART
NEBU 212 242 3.76e-2 SMART
NEBU 245 275 3.25e-6 SMART
NEBU 280 310 2.94e-4 SMART
NEBU 316 346 1.84e-5 SMART
NEBU 354 384 5.2e-5 SMART
NEBU 389 419 3.53e-7 SMART
NEBU 420 450 1.32e-6 SMART
NEBU 455 485 2.32e-2 SMART
NEBU 488 518 5.2e-5 SMART
NEBU 523 553 1.15e-6 SMART
NEBU 559 589 1.81e-4 SMART
NEBU 597 627 4.06e-7 SMART
NEBU 632 662 3.73e-6 SMART
NEBU 663 693 1.97e-5 SMART
NEBU 698 728 2.66e-2 SMART
NEBU 731 761 8.12e-7 SMART
NEBU 766 796 1.1e-8 SMART
NEBU 802 832 2.99e-5 SMART
NEBU 840 870 1.07e-6 SMART
NEBU 875 905 3.94e-5 SMART
NEBU 906 936 2.42e-5 SMART
NEBU 940 971 2.66e-2 SMART
NEBU 974 1004 3.64e-9 SMART
NEBU 1009 1039 1.44e-7 SMART
NEBU 1045 1075 2.87e-7 SMART
NEBU 1083 1113 2.83e-6 SMART
NEBU 1118 1148 5.66e-6 SMART
NEBU 1149 1179 5.28e-6 SMART
Meta Mutation Damage Score 0.4980 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.9%
  • 20x: 93.2%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik T C 9: 15,203,372 (GRCm39) K111R probably benign Het
Abhd18 A G 3: 40,888,218 (GRCm39) Y354C probably benign Het
Acap1 T C 11: 69,774,427 (GRCm39) I424V possibly damaging Het
AI182371 A T 2: 34,975,281 (GRCm39) I306K probably damaging Het
Asb4 G A 6: 5,423,597 (GRCm39) R248H probably damaging Het
Brd7 T C 8: 89,071,819 (GRCm39) T349A probably damaging Het
Bub1b T C 2: 118,428,944 (GRCm39) probably null Het
Cep85l G A 10: 53,225,197 (GRCm39) Q131* probably null Het
Chmp2b T A 16: 65,337,136 (GRCm39) M178L possibly damaging Het
Chrnb3 A G 8: 27,883,355 (GRCm39) N84D probably damaging Het
Clec4b2 A T 6: 123,177,637 (GRCm39) probably null Het
Defa34 T C 8: 22,155,862 (GRCm39) V17A probably benign Het
Dnah3 A T 7: 119,653,856 (GRCm39) L947Q probably damaging Het
Dynlt2a1 G A 17: 15,261,717 (GRCm39) probably benign Het
Ell A G 8: 71,044,188 (GRCm39) Y578C probably damaging Het
Esp36 T A 17: 38,728,135 (GRCm39) M49L probably benign Het
Fbxw19 A T 9: 109,323,751 (GRCm39) W75R probably benign Het
Fcgr4 A G 1: 170,856,838 (GRCm39) Y235C probably damaging Het
Gm10110 A C 14: 90,135,733 (GRCm39) noncoding transcript Het
Gm13030 A T 4: 138,598,708 (GRCm39) probably null Het
Hdac9 T C 12: 34,102,323 (GRCm39) M1058V probably damaging Het
Hsd3b6 A G 3: 98,713,540 (GRCm39) F253S probably damaging Het
Hspg2 T C 4: 137,289,266 (GRCm39) Y3794H probably damaging Het
Mark4 G A 7: 19,177,208 (GRCm39) T207M probably damaging Het
Mme A G 3: 63,249,382 (GRCm39) T304A probably benign Het
Nufip1 A C 14: 76,349,425 (GRCm39) K152N probably damaging Het
Pcdh1 A G 18: 38,331,860 (GRCm39) V381A probably benign Het
Pdss1 A G 2: 22,791,778 (GRCm39) T30A probably damaging Het
Plrg1 A G 3: 82,964,102 (GRCm39) T12A probably damaging Het
Ppig C T 2: 69,579,902 (GRCm39) H479Y unknown Het
Prokr2 A G 2: 132,215,898 (GRCm39) F188L probably damaging Het
Prss39 A G 1: 34,539,150 (GRCm39) N130S probably benign Het
Ptar1 G A 19: 23,671,686 (GRCm39) D30N possibly damaging Het
Rai14 G T 15: 10,575,022 (GRCm39) Y645* probably null Het
Rnasek T C 11: 70,129,252 (GRCm39) Y67C probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 T C 11: 119,354,192 (GRCm39) V4023A probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Sctr T C 1: 119,984,182 (GRCm39) F357L probably damaging Het
Sec14l5 G A 16: 4,984,908 (GRCm39) V85I probably benign Het
Shld2 G A 14: 33,989,565 (GRCm39) T447M probably damaging Het
Sirpd T C 3: 15,385,671 (GRCm39) Y77C probably damaging Het
Spag8 T C 4: 43,653,186 (GRCm39) probably benign Het
Tbc1d2 T C 4: 46,620,736 (GRCm39) D358G possibly damaging Het
Tenm4 A G 7: 96,423,331 (GRCm39) T672A probably damaging Het
Tent2 G A 13: 93,322,821 (GRCm39) Q43* probably null Het
Trmt1l T A 1: 151,329,685 (GRCm39) S543T probably benign Het
Ube4b A G 4: 149,432,494 (GRCm39) F810S probably damaging Het
Vmn2r104 C T 17: 20,249,848 (GRCm39) V808I probably benign Het
Zfp3 T A 11: 70,662,266 (GRCm39) I75N probably benign Het
Zwint A G 10: 72,490,784 (GRCm39) probably benign 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
R0590:Neb UTSW 2 52,027,302 (GRCm39) missense probably damaging 0.99
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
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'- TGCAAAGGACTTACATGGTTCATG -3'
(R):5'- TCCAAGCAACGTTAGTCTGC -3'

Sequencing Primer
(F):5'- GACTTACATGGTTCATGGTTATAGC -3'
(R):5'- ATCTACGGTGGAATGTTCTAGATAGC -3'
Posted On 2018-04-27