Incidental Mutation 'R1591:Vwa8'
ID 175523
Institutional Source Beutler Lab
Gene Symbol Vwa8
Ensembl Gene ENSMUSG00000058997
Gene Name von Willebrand factor A domain containing 8
Synonyms 1300010F03Rik, 4932416F07Rik
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1591 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 79086492-79439750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79145670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 116 (R116C)
Ref Sequence ENSEMBL: ENSMUSP00000154270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040990] [ENSMUST00000227255]
AlphaFold Q8CC88
Predicted Effect probably damaging
Transcript: ENSMUST00000040990
AA Change: R116C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: R116C

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 20 33 N/A INTRINSIC
Pfam:AAA_5 104 260 6.3e-44 PFAM
AAA 438 613 4.69e-2 SMART
AAA 772 904 1.26e-1 SMART
low complexity region 1213 1221 N/A INTRINSIC
low complexity region 1565 1586 N/A INTRINSIC
VWA 1712 1901 2.71e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000227255
AA Change: R116C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228884
Meta Mutation Damage Score 0.6901 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Vwa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Vwa8 APN 14 79,275,635 (GRCm39) missense probably damaging 1.00
IGL01087:Vwa8 APN 14 79,172,669 (GRCm39) missense probably benign 0.16
IGL01137:Vwa8 APN 14 79,341,087 (GRCm39) missense probably damaging 1.00
IGL01359:Vwa8 APN 14 79,302,353 (GRCm39) nonsense probably null
IGL01449:Vwa8 APN 14 79,420,428 (GRCm39) nonsense probably null
IGL01604:Vwa8 APN 14 79,418,244 (GRCm39) missense possibly damaging 0.82
IGL01636:Vwa8 APN 14 79,435,794 (GRCm39) missense possibly damaging 0.68
IGL01815:Vwa8 APN 14 79,435,717 (GRCm39) missense possibly damaging 0.92
IGL02024:Vwa8 APN 14 79,331,724 (GRCm39) missense possibly damaging 0.91
IGL02033:Vwa8 APN 14 79,221,649 (GRCm39) missense possibly damaging 0.89
IGL02154:Vwa8 APN 14 79,086,733 (GRCm39) missense possibly damaging 0.53
IGL02286:Vwa8 APN 14 79,184,713 (GRCm39) critical splice donor site probably null
IGL02393:Vwa8 APN 14 79,420,417 (GRCm39) missense probably damaging 1.00
IGL02430:Vwa8 APN 14 79,172,085 (GRCm39) critical splice donor site probably null
IGL02476:Vwa8 APN 14 79,162,781 (GRCm39) missense possibly damaging 0.62
IGL02612:Vwa8 APN 14 79,420,552 (GRCm39) missense probably benign 0.01
IGL02678:Vwa8 APN 14 79,221,640 (GRCm39) missense probably damaging 0.99
IGL02797:Vwa8 APN 14 79,162,702 (GRCm39) missense probably benign 0.29
IGL02806:Vwa8 APN 14 79,394,528 (GRCm39) missense probably benign 0.35
IGL02811:Vwa8 APN 14 79,231,899 (GRCm39) missense probably benign 0.21
IGL02892:Vwa8 APN 14 79,341,140 (GRCm39) splice site probably benign
IGL03024:Vwa8 APN 14 79,232,538 (GRCm39) missense probably benign 0.03
IGL03075:Vwa8 APN 14 79,171,196 (GRCm39) missense probably damaging 0.99
IGL03090:Vwa8 APN 14 79,172,041 (GRCm39) missense possibly damaging 0.92
IGL03124:Vwa8 APN 14 79,296,255 (GRCm39) splice site probably benign
IGL03181:Vwa8 APN 14 79,246,690 (GRCm39) missense probably benign 0.01
IGL03296:Vwa8 APN 14 79,420,540 (GRCm39) missense probably damaging 0.98
IGL03376:Vwa8 APN 14 79,420,574 (GRCm39) splice site probably null
R6812_Vwa8_870 UTSW 14 79,434,859 (GRCm39) missense probably damaging 0.99
IGL03052:Vwa8 UTSW 14 79,302,361 (GRCm39) missense probably benign 0.02
PIT4468001:Vwa8 UTSW 14 79,420,501 (GRCm39) missense probably damaging 1.00
R0049:Vwa8 UTSW 14 79,331,179 (GRCm39) missense probably benign 0.21
R0063:Vwa8 UTSW 14 79,401,656 (GRCm39) splice site probably benign
R0063:Vwa8 UTSW 14 79,401,656 (GRCm39) splice site probably benign
R0081:Vwa8 UTSW 14 79,320,222 (GRCm39) missense probably benign 0.02
R0305:Vwa8 UTSW 14 79,246,713 (GRCm39) missense probably damaging 1.00
R0433:Vwa8 UTSW 14 79,300,116 (GRCm39) missense probably damaging 1.00
R0514:Vwa8 UTSW 14 79,184,629 (GRCm39) missense probably benign
R0602:Vwa8 UTSW 14 79,258,060 (GRCm39) missense probably benign 0.00
R0615:Vwa8 UTSW 14 79,145,590 (GRCm39) missense probably benign
R0791:Vwa8 UTSW 14 79,232,016 (GRCm39) splice site probably benign
R1028:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R1037:Vwa8 UTSW 14 79,324,094 (GRCm39) nonsense probably null
R1404:Vwa8 UTSW 14 79,263,471 (GRCm39) missense probably damaging 1.00
R1404:Vwa8 UTSW 14 79,263,471 (GRCm39) missense probably damaging 1.00
R1412:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R1421:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R1467:Vwa8 UTSW 14 79,341,134 (GRCm39) nonsense probably null
R1467:Vwa8 UTSW 14 79,341,134 (GRCm39) nonsense probably null
R1539:Vwa8 UTSW 14 79,300,002 (GRCm39) missense probably benign 0.00
R1556:Vwa8 UTSW 14 79,324,121 (GRCm39) missense probably benign
R1589:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R1590:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R1645:Vwa8 UTSW 14 79,420,427 (GRCm39) missense probably damaging 1.00
R1673:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R1688:Vwa8 UTSW 14 79,438,543 (GRCm39) missense possibly damaging 0.72
R1764:Vwa8 UTSW 14 79,145,635 (GRCm39) missense probably damaging 1.00
R1830:Vwa8 UTSW 14 79,318,576 (GRCm39) missense probably benign 0.04
R1926:Vwa8 UTSW 14 79,258,075 (GRCm39) missense probably benign 0.00
R1959:Vwa8 UTSW 14 79,219,800 (GRCm39) missense possibly damaging 0.95
R1971:Vwa8 UTSW 14 79,162,694 (GRCm39) splice site probably benign
R2078:Vwa8 UTSW 14 79,145,597 (GRCm39) missense probably damaging 1.00
R2103:Vwa8 UTSW 14 79,145,670 (GRCm39) missense probably damaging 1.00
R2230:Vwa8 UTSW 14 79,329,843 (GRCm39) critical splice donor site probably null
R2281:Vwa8 UTSW 14 79,302,436 (GRCm39) missense possibly damaging 0.91
R2313:Vwa8 UTSW 14 79,149,658 (GRCm39) missense probably damaging 0.98
R2847:Vwa8 UTSW 14 79,184,582 (GRCm39) missense probably benign 0.00
R2848:Vwa8 UTSW 14 79,184,582 (GRCm39) missense probably benign 0.00
R2894:Vwa8 UTSW 14 79,275,578 (GRCm39) missense probably damaging 1.00
R2991:Vwa8 UTSW 14 79,232,589 (GRCm39) missense probably benign 0.00
R3077:Vwa8 UTSW 14 79,335,782 (GRCm39) missense probably benign 0.03
R3405:Vwa8 UTSW 14 79,401,660 (GRCm39) splice site probably benign
R3406:Vwa8 UTSW 14 79,401,660 (GRCm39) splice site probably benign
R3708:Vwa8 UTSW 14 79,300,136 (GRCm39) splice site probably benign
R3779:Vwa8 UTSW 14 79,339,762 (GRCm39) splice site probably benign
R3799:Vwa8 UTSW 14 79,302,336 (GRCm39) missense probably damaging 0.99
R4230:Vwa8 UTSW 14 79,320,292 (GRCm39) missense probably benign 0.00
R4425:Vwa8 UTSW 14 79,320,246 (GRCm39) missense probably benign 0.00
R4478:Vwa8 UTSW 14 79,106,241 (GRCm39) missense probably benign 0.00
R4627:Vwa8 UTSW 14 79,341,137 (GRCm39) critical splice donor site probably null
R4835:Vwa8 UTSW 14 79,172,053 (GRCm39) missense probably benign 0.11
R4868:Vwa8 UTSW 14 79,420,522 (GRCm39) missense probably damaging 1.00
R4988:Vwa8 UTSW 14 79,435,723 (GRCm39) missense probably benign 0.05
R5137:Vwa8 UTSW 14 79,302,342 (GRCm39) missense probably damaging 1.00
R5156:Vwa8 UTSW 14 79,221,666 (GRCm39) missense probably benign 0.00
R5658:Vwa8 UTSW 14 79,219,838 (GRCm39) critical splice donor site probably null
R5841:Vwa8 UTSW 14 79,231,958 (GRCm39) missense probably benign
R6057:Vwa8 UTSW 14 79,320,313 (GRCm39) missense probably benign 0.21
R6244:Vwa8 UTSW 14 79,324,102 (GRCm39) missense probably benign
R6264:Vwa8 UTSW 14 79,324,252 (GRCm39) missense possibly damaging 0.64
R6290:Vwa8 UTSW 14 79,331,772 (GRCm39) splice site probably null
R6332:Vwa8 UTSW 14 79,434,904 (GRCm39) missense probably benign
R6395:Vwa8 UTSW 14 79,331,184 (GRCm39) missense probably benign 0.02
R6472:Vwa8 UTSW 14 79,246,610 (GRCm39) missense possibly damaging 0.71
R6497:Vwa8 UTSW 14 79,333,841 (GRCm39) missense probably benign 0.00
R6527:Vwa8 UTSW 14 79,184,653 (GRCm39) missense possibly damaging 0.73
R6552:Vwa8 UTSW 14 79,435,662 (GRCm39) missense possibly damaging 0.80
R6812:Vwa8 UTSW 14 79,434,859 (GRCm39) missense probably damaging 0.99
R6994:Vwa8 UTSW 14 79,145,596 (GRCm39) missense possibly damaging 0.90
R7040:Vwa8 UTSW 14 79,149,645 (GRCm39) missense probably damaging 1.00
R7357:Vwa8 UTSW 14 79,275,641 (GRCm39) missense probably null 1.00
R7363:Vwa8 UTSW 14 79,256,147 (GRCm39) missense probably benign 0.05
R7381:Vwa8 UTSW 14 79,333,125 (GRCm39) missense probably benign 0.00
R7406:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7408:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7409:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7410:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7483:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7484:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7491:Vwa8 UTSW 14 79,320,254 (GRCm39) missense probably benign 0.24
R7500:Vwa8 UTSW 14 79,162,686 (GRCm39) splice site probably null
R7514:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7582:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7584:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7585:Vwa8 UTSW 14 79,219,674 (GRCm39) critical splice acceptor site probably null
R7647:Vwa8 UTSW 14 79,172,669 (GRCm39) missense probably damaging 0.99
R7685:Vwa8 UTSW 14 79,335,740 (GRCm39) missense probably benign
R7703:Vwa8 UTSW 14 79,263,513 (GRCm39) missense probably damaging 1.00
R7730:Vwa8 UTSW 14 79,232,589 (GRCm39) missense probably benign 0.00
R7775:Vwa8 UTSW 14 79,275,587 (GRCm39) missense probably benign 0.03
R7778:Vwa8 UTSW 14 79,275,587 (GRCm39) missense probably benign 0.03
R7824:Vwa8 UTSW 14 79,275,587 (GRCm39) missense probably benign 0.03
R7885:Vwa8 UTSW 14 79,258,089 (GRCm39) missense probably benign 0.00
R7902:Vwa8 UTSW 14 79,329,731 (GRCm39) missense probably benign 0.00
R8262:Vwa8 UTSW 14 79,171,272 (GRCm39) critical splice donor site probably null
R8458:Vwa8 UTSW 14 79,302,332 (GRCm39) missense probably damaging 1.00
R8495:Vwa8 UTSW 14 79,174,617 (GRCm39) nonsense probably null
R8557:Vwa8 UTSW 14 79,246,649 (GRCm39) missense probably damaging 1.00
R8841:Vwa8 UTSW 14 79,184,702 (GRCm39) missense probably benign 0.04
R8906:Vwa8 UTSW 14 79,329,815 (GRCm39) missense probably benign 0.00
R8947:Vwa8 UTSW 14 79,438,552 (GRCm39) missense probably damaging 1.00
R9034:Vwa8 UTSW 14 79,296,179 (GRCm39) missense probably damaging 1.00
R9051:Vwa8 UTSW 14 79,324,150 (GRCm39) missense probably benign 0.00
R9179:Vwa8 UTSW 14 79,335,801 (GRCm39) missense probably benign
R9433:Vwa8 UTSW 14 79,335,871 (GRCm39) critical splice donor site probably null
R9455:Vwa8 UTSW 14 79,300,115 (GRCm39) missense probably damaging 1.00
R9496:Vwa8 UTSW 14 79,258,122 (GRCm39) missense probably benign
R9530:Vwa8 UTSW 14 79,172,639 (GRCm39) missense probably benign 0.33
R9584:Vwa8 UTSW 14 79,394,549 (GRCm39) missense probably benign
R9763:Vwa8 UTSW 14 79,186,988 (GRCm39) missense probably damaging 1.00
Z1088:Vwa8 UTSW 14 79,219,686 (GRCm39) missense probably benign 0.38
Z1177:Vwa8 UTSW 14 79,296,132 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCTCTCACTGGCTTTGAAATGG -3'
(R):5'- GCACTGCCTGATGACAGCAATACC -3'

Sequencing Primer
(F):5'- tctatctgtcatctatccatccatc -3'
(R):5'- TGATGACAGCAATACCTAAAACTAC -3'
Posted On 2014-04-24