Incidental Mutation 'R5942:Srcap'
ID 460346
Institutional Source Beutler Lab
Gene Symbol Srcap
Ensembl Gene ENSMUSG00000053877
Gene Name Snf2-related CREBBP activator protein
Synonyms D030022P06Rik, B930091H02Rik, F630004O05Rik
MMRRC Submission 044134-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R5942 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127111155-127160391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127137180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 954 (D954G)
Ref Sequence ENSEMBL: ENSMUSP00000139399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066582] [ENSMUST00000186672] [ENSMUST00000186954] [ENSMUST00000187040] [ENSMUST00000189629] [ENSMUST00000190390]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066582
SMART Domains Protein: ENSMUSP00000063817
Gene: ENSMUSG00000053877

DomainStartEndE-ValueType
Pfam:HSA 108 177 1.1e-22 PFAM
low complexity region 238 261 N/A INTRINSIC
low complexity region 264 291 N/A INTRINSIC
low complexity region 303 328 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
low complexity region 460 538 N/A INTRINSIC
low complexity region 557 572 N/A INTRINSIC
DEXDc 606 798 1.22e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186672
AA Change: D954G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: D954G

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
low complexity region 1150 1178 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000186954
AA Change: D954G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: D954G

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1175 1194 N/A INTRINSIC
internal_repeat_1 1202 1245 2.24e-5 PROSPERO
low complexity region 1274 1302 N/A INTRINSIC
low complexity region 1304 1318 N/A INTRINSIC
low complexity region 1335 1353 N/A INTRINSIC
low complexity region 1355 1370 N/A INTRINSIC
low complexity region 1414 1441 N/A INTRINSIC
low complexity region 1452 1466 N/A INTRINSIC
low complexity region 1504 1533 N/A INTRINSIC
internal_repeat_1 1536 1579 2.24e-5 PROSPERO
internal_repeat_2 1537 1559 5.66e-5 PROSPERO
internal_repeat_2 1569 1589 5.66e-5 PROSPERO
low complexity region 1590 1607 N/A INTRINSIC
low complexity region 1609 1627 N/A INTRINSIC
low complexity region 1644 1678 N/A INTRINSIC
low complexity region 1713 1726 N/A INTRINSIC
low complexity region 1828 1840 N/A INTRINSIC
HELICc 1916 1999 1.2e-28 SMART
low complexity region 2058 2078 N/A INTRINSIC
coiled coil region 2166 2201 N/A INTRINSIC
low complexity region 2282 2348 N/A INTRINSIC
low complexity region 2374 2409 N/A INTRINSIC
low complexity region 2588 2600 N/A INTRINSIC
low complexity region 2642 2657 N/A INTRINSIC
low complexity region 2685 2712 N/A INTRINSIC
AT_hook 2745 2757 2.4e-2 SMART
low complexity region 2797 2817 N/A INTRINSIC
AT_hook 2825 2837 2.6e-3 SMART
low complexity region 2838 2849 N/A INTRINSIC
low complexity region 2858 2885 N/A INTRINSIC
AT_hook 2889 2901 2.4e-3 SMART
low complexity region 2934 2945 N/A INTRINSIC
low complexity region 2946 2956 N/A INTRINSIC
low complexity region 3043 3079 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187040
AA Change: D954G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: D954G

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
low complexity region 1150 1178 N/A INTRINSIC
low complexity region 1277 1305 N/A INTRINSIC
low complexity region 1332 1351 N/A INTRINSIC
internal_repeat_1 1359 1402 1.78e-5 PROSPERO
low complexity region 1431 1459 N/A INTRINSIC
low complexity region 1461 1475 N/A INTRINSIC
low complexity region 1492 1510 N/A INTRINSIC
low complexity region 1512 1527 N/A INTRINSIC
low complexity region 1571 1598 N/A INTRINSIC
low complexity region 1609 1623 N/A INTRINSIC
low complexity region 1661 1690 N/A INTRINSIC
internal_repeat_1 1693 1736 1.78e-5 PROSPERO
internal_repeat_2 1694 1716 4.56e-5 PROSPERO
internal_repeat_2 1726 1746 4.56e-5 PROSPERO
low complexity region 1747 1764 N/A INTRINSIC
low complexity region 1766 1784 N/A INTRINSIC
low complexity region 1801 1835 N/A INTRINSIC
low complexity region 1870 1883 N/A INTRINSIC
low complexity region 1985 1997 N/A INTRINSIC
HELICc 2073 2156 1.2e-28 SMART
low complexity region 2215 2235 N/A INTRINSIC
coiled coil region 2323 2358 N/A INTRINSIC
low complexity region 2439 2505 N/A INTRINSIC
low complexity region 2531 2566 N/A INTRINSIC
low complexity region 2745 2757 N/A INTRINSIC
low complexity region 2799 2814 N/A INTRINSIC
low complexity region 2842 2869 N/A INTRINSIC
AT_hook 2902 2914 2.4e-2 SMART
low complexity region 2954 2974 N/A INTRINSIC
AT_hook 2982 2994 2.6e-3 SMART
low complexity region 2995 3006 N/A INTRINSIC
low complexity region 3015 3042 N/A INTRINSIC
AT_hook 3046 3058 2.4e-3 SMART
low complexity region 3091 3102 N/A INTRINSIC
low complexity region 3103 3113 N/A INTRINSIC
low complexity region 3200 3236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187164
Predicted Effect possibly damaging
Transcript: ENSMUST00000189629
AA Change: D935G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: D935G

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
HSA 106 177 5.4e-25 SMART
low complexity region 238 261 N/A INTRINSIC
low complexity region 264 291 N/A INTRINSIC
low complexity region 303 328 N/A INTRINSIC
low complexity region 377 401 N/A INTRINSIC
low complexity region 461 539 N/A INTRINSIC
low complexity region 558 573 N/A INTRINSIC
DEXDc 607 799 5e-37 SMART
low complexity region 974 982 N/A INTRINSIC
low complexity region 1008 1023 N/A INTRINSIC
low complexity region 1027 1044 N/A INTRINSIC
low complexity region 1156 1175 N/A INTRINSIC
internal_repeat_1 1183 1226 2e-5 PROSPERO
low complexity region 1255 1283 N/A INTRINSIC
low complexity region 1285 1299 N/A INTRINSIC
low complexity region 1316 1334 N/A INTRINSIC
low complexity region 1336 1351 N/A INTRINSIC
low complexity region 1395 1422 N/A INTRINSIC
low complexity region 1433 1447 N/A INTRINSIC
low complexity region 1485 1514 N/A INTRINSIC
internal_repeat_1 1517 1560 2e-5 PROSPERO
internal_repeat_2 1518 1540 5.08e-5 PROSPERO
internal_repeat_2 1550 1570 5.08e-5 PROSPERO
low complexity region 1571 1588 N/A INTRINSIC
low complexity region 1590 1608 N/A INTRINSIC
low complexity region 1625 1659 N/A INTRINSIC
low complexity region 1694 1707 N/A INTRINSIC
low complexity region 1809 1821 N/A INTRINSIC
HELICc 1897 1980 1.2e-28 SMART
low complexity region 2039 2059 N/A INTRINSIC
coiled coil region 2147 2182 N/A INTRINSIC
low complexity region 2263 2329 N/A INTRINSIC
low complexity region 2355 2390 N/A INTRINSIC
low complexity region 2569 2581 N/A INTRINSIC
low complexity region 2623 2638 N/A INTRINSIC
low complexity region 2666 2693 N/A INTRINSIC
AT_hook 2726 2738 2.4e-2 SMART
low complexity region 2778 2798 N/A INTRINSIC
AT_hook 2806 2818 2.6e-3 SMART
low complexity region 2819 2830 N/A INTRINSIC
low complexity region 2839 2866 N/A INTRINSIC
AT_hook 2870 2882 2.4e-3 SMART
low complexity region 2915 2926 N/A INTRINSIC
low complexity region 2927 2937 N/A INTRINSIC
low complexity region 3024 3060 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190390
AA Change: D954G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: D954G

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
HSA 125 196 5.4e-25 SMART
low complexity region 257 280 N/A INTRINSIC
low complexity region 283 310 N/A INTRINSIC
low complexity region 322 347 N/A INTRINSIC
low complexity region 396 420 N/A INTRINSIC
low complexity region 480 558 N/A INTRINSIC
low complexity region 577 592 N/A INTRINSIC
DEXDc 626 818 5e-37 SMART
low complexity region 993 1001 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
low complexity region 1046 1063 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
low complexity region 1150 1178 N/A INTRINSIC
low complexity region 1271 1290 N/A INTRINSIC
internal_repeat_1 1298 1341 2.01e-5 PROSPERO
low complexity region 1370 1398 N/A INTRINSIC
low complexity region 1400 1414 N/A INTRINSIC
low complexity region 1431 1449 N/A INTRINSIC
low complexity region 1451 1466 N/A INTRINSIC
low complexity region 1510 1537 N/A INTRINSIC
low complexity region 1548 1562 N/A INTRINSIC
low complexity region 1600 1629 N/A INTRINSIC
internal_repeat_1 1632 1675 2.01e-5 PROSPERO
internal_repeat_2 1633 1655 5.11e-5 PROSPERO
internal_repeat_2 1665 1685 5.11e-5 PROSPERO
low complexity region 1686 1703 N/A INTRINSIC
low complexity region 1705 1723 N/A INTRINSIC
low complexity region 1740 1774 N/A INTRINSIC
low complexity region 1809 1822 N/A INTRINSIC
low complexity region 1924 1936 N/A INTRINSIC
HELICc 2012 2095 1.2e-28 SMART
low complexity region 2154 2174 N/A INTRINSIC
coiled coil region 2262 2297 N/A INTRINSIC
low complexity region 2378 2444 N/A INTRINSIC
low complexity region 2470 2505 N/A INTRINSIC
low complexity region 2684 2696 N/A INTRINSIC
low complexity region 2738 2753 N/A INTRINSIC
low complexity region 2781 2808 N/A INTRINSIC
AT_hook 2841 2853 2.4e-2 SMART
low complexity region 2893 2913 N/A INTRINSIC
AT_hook 2921 2933 2.6e-3 SMART
low complexity region 2934 2945 N/A INTRINSIC
low complexity region 2954 2981 N/A INTRINSIC
AT_hook 2985 2997 2.4e-3 SMART
low complexity region 3030 3041 N/A INTRINSIC
low complexity region 3042 3052 N/A INTRINSIC
low complexity region 3139 3175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189812
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 96.7%
  • 20x: 89.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,333 (GRCm39) V860M probably benign Het
Accs A T 2: 93,666,392 (GRCm39) L432M probably damaging Het
Actrt3 T A 3: 30,652,813 (GRCm39) N94Y possibly damaging Het
Adamts18 T C 8: 114,504,380 (GRCm39) Q80R probably benign Het
Ccr8 G T 9: 119,923,772 (GRCm39) V296F probably damaging Het
Cep170 T A 1: 176,583,985 (GRCm39) E798V probably damaging Het
Cttnbp2 T A 6: 18,448,439 (GRCm39) E73D probably damaging Het
Cyp2a4 A T 7: 26,010,129 (GRCm39) probably null Het
Dync2h1 A T 9: 7,117,466 (GRCm39) Y41* probably null Het
Enc1 G A 13: 97,382,887 (GRCm39) D466N probably benign Het
Enpp1 C A 10: 24,551,966 (GRCm39) E138* probably null Het
Entrep1 A G 19: 23,963,834 (GRCm39) V245A probably damaging Het
Ezh2 T C 6: 47,554,516 (GRCm39) R27G possibly damaging Het
Fut10 A G 8: 31,691,485 (GRCm39) N110S possibly damaging Het
Glt1d1 A T 5: 127,721,534 (GRCm39) probably null Het
Gm14393 G A 2: 174,903,689 (GRCm39) Q73* probably null Het
Gpr156 C T 16: 37,825,264 (GRCm39) P494S probably benign Het
Has2 T A 15: 56,531,192 (GRCm39) K508* probably null Het
Hc A T 2: 34,918,137 (GRCm39) C715* probably null Het
Hook2 C T 8: 85,721,409 (GRCm39) probably null Het
Klhdc7b A C 15: 89,271,634 (GRCm39) I839L probably benign Het
Kndc1 T C 7: 139,516,792 (GRCm39) L1584P probably damaging Het
Lamp1 T C 8: 13,223,941 (GRCm39) F358L probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mga A G 2: 119,777,440 (GRCm39) I1871V probably benign Het
Mgmt T A 7: 136,723,219 (GRCm39) D96E probably benign Het
Morc2a C A 11: 3,629,936 (GRCm39) T424K probably damaging Het
Myo1g A G 11: 6,464,888 (GRCm39) L462P probably damaging Het
Ncaph C A 2: 126,958,608 (GRCm39) probably null Het
Nlrc3 A T 16: 3,767,293 (GRCm39) D969E probably damaging Het
Nt5c3 A T 6: 56,874,839 (GRCm39) probably null Het
Or4c12b G T 2: 89,646,684 (GRCm39) E5* probably null Het
Or5ac15 A T 16: 58,940,039 (GRCm39) Y131* probably null Het
Or5d41 A C 2: 88,054,916 (GRCm39) I153M probably benign Het
Or8h8 T C 2: 86,753,750 (GRCm39) N42S probably damaging Het
Parp14 C A 16: 35,659,737 (GRCm39) M1628I probably damaging Het
Parp8 G T 13: 117,005,969 (GRCm39) P693Q probably benign Het
Parp9 A G 16: 35,792,259 (GRCm39) D485G possibly damaging Het
Pcdha1 T A 18: 37,063,444 (GRCm39) V36D probably damaging Het
Pcdhb5 C T 18: 37,453,838 (GRCm39) Q73* probably null Het
Pecam1 G T 11: 106,552,809 (GRCm39) probably benign Het
Pex1 A G 5: 3,660,277 (GRCm39) I527V probably benign Het
Phf11 G A 14: 59,497,593 (GRCm39) P13S probably benign Het
Ppp4r4 T A 12: 103,553,706 (GRCm39) V388D possibly damaging Het
Psmc4 C T 7: 27,746,480 (GRCm39) V202I probably damaging Het
Ptx3 T G 3: 66,127,484 (GRCm39) M1R probably null Het
Rimbp3 A G 16: 17,029,752 (GRCm39) T1059A probably benign Het
Rmdn3 G A 2: 118,978,058 (GRCm39) A181V probably damaging Het
Rnase10 A T 14: 51,246,735 (GRCm39) M38L probably benign Het
Sec16b T A 1: 157,358,920 (GRCm39) Y118N probably damaging Het
Sigmar1 T C 4: 41,741,159 (GRCm39) T32A probably benign Het
Tfrc A G 16: 32,445,533 (GRCm39) N618S possibly damaging Het
Tnrc6a A G 7: 122,785,888 (GRCm39) D1028G probably damaging Het
Tns3 A T 11: 8,385,860 (GRCm39) D1379E probably damaging Het
Ttn A T 2: 76,580,505 (GRCm39) C23463S possibly damaging Het
Ufl1 T C 4: 25,250,619 (GRCm39) T745A probably benign Het
Vmn1r231 T A 17: 21,110,417 (GRCm39) Y166F possibly damaging Het
Wbp1l C A 19: 46,642,869 (GRCm39) T290K probably damaging Het
Wdr25 A G 12: 108,864,392 (GRCm39) N179S probably benign Het
Wdr62 G A 7: 29,942,504 (GRCm39) Q1035* probably null Het
Yif1a C T 19: 5,141,669 (GRCm39) R196C probably damaging Het
Zfp352 A T 4: 90,113,307 (GRCm39) K482N probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Srcap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Srcap APN 7 127,141,885 (GRCm39) splice site probably benign
IGL00475:Srcap APN 7 127,152,093 (GRCm39) missense possibly damaging 0.92
IGL01064:Srcap APN 7 127,159,064 (GRCm39) unclassified probably benign
IGL01129:Srcap APN 7 127,120,823 (GRCm39) missense probably damaging 1.00
IGL01670:Srcap APN 7 127,127,604 (GRCm39) missense probably damaging 1.00
IGL01861:Srcap APN 7 127,124,457 (GRCm39) splice site probably benign
IGL02237:Srcap APN 7 127,133,864 (GRCm39) splice site probably benign
IGL02665:Srcap APN 7 127,140,075 (GRCm39) missense probably damaging 1.00
IGL02688:Srcap APN 7 127,141,625 (GRCm39) missense probably benign 0.04
IGL02744:Srcap APN 7 127,133,838 (GRCm39) missense probably damaging 1.00
IGL02810:Srcap APN 7 127,120,835 (GRCm39) critical splice donor site probably null
IGL03184:Srcap APN 7 127,129,674 (GRCm39) unclassified probably benign
IGL03309:Srcap APN 7 127,129,965 (GRCm39) missense probably damaging 0.99
PIT4453001:Srcap UTSW 7 127,148,492 (GRCm39) missense possibly damaging 0.52
R1340:Srcap UTSW 7 127,159,910 (GRCm39) intron probably benign
R1401:Srcap UTSW 7 127,159,124 (GRCm39) unclassified probably benign
R1455:Srcap UTSW 7 127,129,822 (GRCm39) missense probably damaging 0.99
R1470:Srcap UTSW 7 127,158,899 (GRCm39) unclassified probably benign
R1470:Srcap UTSW 7 127,158,899 (GRCm39) unclassified probably benign
R1761:Srcap UTSW 7 127,134,017 (GRCm39) missense probably damaging 1.00
R1911:Srcap UTSW 7 127,133,994 (GRCm39) missense probably damaging 0.99
R2483:Srcap UTSW 7 127,141,319 (GRCm39) missense probably damaging 0.99
R2892:Srcap UTSW 7 127,138,237 (GRCm39) missense probably damaging 0.99
R2893:Srcap UTSW 7 127,138,237 (GRCm39) missense probably damaging 0.99
R3623:Srcap UTSW 7 127,141,319 (GRCm39) missense probably damaging 0.99
R3976:Srcap UTSW 7 127,148,411 (GRCm39) missense probably benign 0.18
R4001:Srcap UTSW 7 127,131,339 (GRCm39) missense probably damaging 1.00
R4015:Srcap UTSW 7 127,124,595 (GRCm39) missense probably benign 0.27
R4581:Srcap UTSW 7 127,157,482 (GRCm39) unclassified probably benign
R4643:Srcap UTSW 7 127,140,948 (GRCm39) missense probably damaging 1.00
R4644:Srcap UTSW 7 127,151,770 (GRCm39) missense probably damaging 1.00
R4690:Srcap UTSW 7 127,137,186 (GRCm39) missense probably damaging 1.00
R4693:Srcap UTSW 7 127,137,716 (GRCm39) missense probably damaging 1.00
R4719:Srcap UTSW 7 127,140,731 (GRCm39) missense probably benign 0.13
R4728:Srcap UTSW 7 127,140,096 (GRCm39) critical splice donor site probably null
R4740:Srcap UTSW 7 127,148,471 (GRCm39) missense probably damaging 1.00
R4752:Srcap UTSW 7 127,158,172 (GRCm39) unclassified probably benign
R4834:Srcap UTSW 7 127,156,782 (GRCm39) critical splice donor site probably null
R4837:Srcap UTSW 7 127,158,134 (GRCm39) unclassified probably benign
R4884:Srcap UTSW 7 127,121,189 (GRCm39) missense probably damaging 1.00
R4889:Srcap UTSW 7 127,137,719 (GRCm39) missense possibly damaging 0.94
R5088:Srcap UTSW 7 127,140,833 (GRCm39) missense probably benign 0.02
R5102:Srcap UTSW 7 127,129,795 (GRCm39) missense probably damaging 1.00
R5358:Srcap UTSW 7 127,139,492 (GRCm39) missense probably damaging 1.00
R5372:Srcap UTSW 7 127,156,785 (GRCm39) splice site probably null
R5397:Srcap UTSW 7 127,152,468 (GRCm39) critical splice donor site probably null
R5481:Srcap UTSW 7 127,131,369 (GRCm39) missense probably damaging 1.00
R5566:Srcap UTSW 7 127,124,475 (GRCm39) missense probably damaging 0.99
R5584:Srcap UTSW 7 127,127,651 (GRCm39) missense probably damaging 1.00
R5693:Srcap UTSW 7 127,118,988 (GRCm39) missense probably damaging 1.00
R5769:Srcap UTSW 7 127,158,994 (GRCm39) unclassified probably benign
R5805:Srcap UTSW 7 127,141,211 (GRCm39) missense possibly damaging 0.87
R5806:Srcap UTSW 7 127,158,335 (GRCm39) unclassified probably benign
R5921:Srcap UTSW 7 127,158,005 (GRCm39) unclassified probably benign
R6014:Srcap UTSW 7 127,137,922 (GRCm39) missense probably benign 0.01
R6057:Srcap UTSW 7 127,140,528 (GRCm39) missense probably damaging 0.99
R6113:Srcap UTSW 7 127,159,453 (GRCm39) unclassified probably benign
R6150:Srcap UTSW 7 127,134,000 (GRCm39) missense probably damaging 1.00
R6212:Srcap UTSW 7 127,148,861 (GRCm39) missense probably damaging 1.00
R6299:Srcap UTSW 7 127,129,626 (GRCm39) unclassified probably benign
R6437:Srcap UTSW 7 127,127,722 (GRCm39) splice site probably null
R6492:Srcap UTSW 7 127,121,317 (GRCm39) nonsense probably null
R6537:Srcap UTSW 7 127,141,392 (GRCm39) missense probably damaging 0.97
R6659:Srcap UTSW 7 127,141,563 (GRCm39) missense probably damaging 1.00
R6713:Srcap UTSW 7 127,134,089 (GRCm39) missense probably benign 0.28
R6717:Srcap UTSW 7 127,157,482 (GRCm39) unclassified probably benign
R6941:Srcap UTSW 7 127,141,769 (GRCm39) missense probably damaging 1.00
R7068:Srcap UTSW 7 127,141,115 (GRCm39) missense probably benign 0.00
R7097:Srcap UTSW 7 127,138,213 (GRCm39) missense probably damaging 1.00
R7394:Srcap UTSW 7 127,134,000 (GRCm39) missense probably damaging 1.00
R7426:Srcap UTSW 7 127,137,689 (GRCm39) missense possibly damaging 0.90
R7434:Srcap UTSW 7 127,159,414 (GRCm39) missense unknown
R7559:Srcap UTSW 7 127,129,722 (GRCm39) missense unknown
R7638:Srcap UTSW 7 127,137,920 (GRCm39) missense probably benign 0.39
R7677:Srcap UTSW 7 127,158,980 (GRCm39) missense unknown
R7715:Srcap UTSW 7 127,148,460 (GRCm39) missense probably damaging 0.99
R7757:Srcap UTSW 7 127,129,966 (GRCm39) missense probably damaging 0.99
R7811:Srcap UTSW 7 127,141,221 (GRCm39) missense probably damaging 0.97
R7821:Srcap UTSW 7 127,129,499 (GRCm39) unclassified probably benign
R7869:Srcap UTSW 7 127,138,366 (GRCm39) missense possibly damaging 0.92
R7870:Srcap UTSW 7 127,159,730 (GRCm39) missense unknown
R7941:Srcap UTSW 7 127,157,462 (GRCm39) unclassified probably benign
R7994:Srcap UTSW 7 127,140,930 (GRCm39) missense probably benign 0.00
R8035:Srcap UTSW 7 127,141,784 (GRCm39) missense probably benign 0.05
R8066:Srcap UTSW 7 127,120,804 (GRCm39) missense probably damaging 1.00
R8066:Srcap UTSW 7 127,139,484 (GRCm39) missense possibly damaging 0.74
R8168:Srcap UTSW 7 127,141,695 (GRCm39) missense probably damaging 1.00
R8194:Srcap UTSW 7 127,138,369 (GRCm39) missense probably damaging 1.00
R8288:Srcap UTSW 7 127,130,528 (GRCm39) missense probably damaging 1.00
R8307:Srcap UTSW 7 127,124,541 (GRCm39) missense probably damaging 1.00
R8308:Srcap UTSW 7 127,152,353 (GRCm39) missense possibly damaging 0.82
R8309:Srcap UTSW 7 127,148,529 (GRCm39) missense probably damaging 0.98
R8311:Srcap UTSW 7 127,156,969 (GRCm39) missense probably damaging 0.99
R8321:Srcap UTSW 7 127,140,068 (GRCm39) missense probably damaging 1.00
R8365:Srcap UTSW 7 127,148,869 (GRCm39) missense probably damaging 1.00
R8424:Srcap UTSW 7 127,141,560 (GRCm39) missense probably benign 0.00
R8815:Srcap UTSW 7 127,158,037 (GRCm39) missense unknown
R8817:Srcap UTSW 7 127,152,395 (GRCm39) missense probably benign 0.23
R8924:Srcap UTSW 7 127,158,204 (GRCm39) missense unknown
R8933:Srcap UTSW 7 127,151,566 (GRCm39) missense probably damaging 1.00
R8961:Srcap UTSW 7 127,141,101 (GRCm39) missense probably damaging 1.00
R9000:Srcap UTSW 7 127,130,943 (GRCm39) missense possibly damaging 0.91
R9098:Srcap UTSW 7 127,151,816 (GRCm39) missense probably damaging 0.99
R9124:Srcap UTSW 7 127,159,874 (GRCm39) missense unknown
R9163:Srcap UTSW 7 127,121,162 (GRCm39) missense unknown
R9332:Srcap UTSW 7 127,158,812 (GRCm39) missense unknown
R9389:Srcap UTSW 7 127,141,455 (GRCm39) missense probably damaging 1.00
R9464:Srcap UTSW 7 127,137,273 (GRCm39) missense possibly damaging 0.95
R9467:Srcap UTSW 7 127,139,531 (GRCm39) missense probably damaging 0.98
R9554:Srcap UTSW 7 127,151,577 (GRCm39) missense probably damaging 1.00
R9596:Srcap UTSW 7 127,131,036 (GRCm39) missense probably damaging 1.00
R9597:Srcap UTSW 7 127,121,219 (GRCm39) missense possibly damaging 0.91
X0025:Srcap UTSW 7 127,159,277 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACCAGTTGTTCTGTCATTAAAGGTGG -3'
(R):5'- TTAAGCATGTACCTGTTGACCTTC -3'

Sequencing Primer
(F):5'- cctttctatgggttgcctt -3'
(R):5'- CATCTTGACTGGCTTGGGAC -3'
Posted On 2017-02-28