Incidental Mutation 'R1590:Vwa8'
ID 177824
Institutional Source Beutler Lab
Gene Symbol Vwa8
Ensembl Gene ENSMUSG00000058997
Gene Name von Willebrand factor A domain containing 8
Synonyms 1300010F03Rik, 4932416F07Rik
MMRRC Submission 039627-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1590 (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: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,322,370 (GRCm39) S95P probably damaging Het
Ankmy1 T C 1: 92,816,397 (GRCm39) Y239C probably damaging Het
Atp12a T C 14: 56,617,512 (GRCm39) S601P probably damaging Het
Atp1b3 T C 9: 96,225,402 (GRCm39) T89A probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Brme1 A T 8: 84,893,715 (GRCm39) Q294L probably benign Het
Btnl2 A T 17: 34,580,114 (GRCm39) I216F possibly damaging Het
Cabs1 A T 5: 88,127,490 (GRCm39) H47L probably damaging Het
Ccdc68 T A 18: 70,073,251 (GRCm39) D66E probably benign Het
Cdc42ep4 T C 11: 113,619,392 (GRCm39) D333G possibly damaging Het
Ckmt1 G A 2: 121,194,003 (GRCm39) D389N possibly damaging Het
Dact1 G T 12: 71,364,349 (GRCm39) V340F probably benign Het
Dnah2 T C 11: 69,412,024 (GRCm39) T246A probably benign Het
Dnah2 A G 11: 69,313,580 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Efcab14 A G 4: 115,613,746 (GRCm39) probably benign Het
Eprs1 A G 1: 185,133,707 (GRCm39) T795A probably damaging Het
Esp36 T A 17: 38,728,202 (GRCm39) E26D possibly damaging Het
Fpr-rs7 T C 17: 20,333,678 (GRCm39) T271A probably benign Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gimap7 G A 6: 48,700,953 (GRCm39) V180M probably damaging Het
Gtf3c1 T C 7: 125,275,833 (GRCm39) H531R possibly damaging Het
Herc1 T A 9: 66,399,235 (GRCm39) probably benign Het
Hip1r A G 5: 124,140,203 (GRCm39) Y1061C probably benign Het
Ipo11 T C 13: 107,023,225 (GRCm39) Y420C probably damaging Het
Ipo8 T C 6: 148,712,163 (GRCm39) probably null Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klhl1 A T 14: 96,606,072 (GRCm39) M243K probably damaging Het
Lrp2 A G 2: 69,297,107 (GRCm39) probably null Het
Mag T C 7: 30,601,277 (GRCm39) E439G probably damaging Het
Mcm3ap T A 10: 76,332,375 (GRCm39) F1231I probably benign Het
Mcmdc2 C T 1: 9,986,780 (GRCm39) Q204* probably null Het
Mpl A C 4: 118,301,221 (GRCm39) L548R probably damaging Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Myo18b G A 5: 113,023,132 (GRCm39) Q87* probably null Het
Nfat5 A G 8: 108,020,522 (GRCm39) Y22C probably damaging Het
Nnt T A 13: 119,523,197 (GRCm39) I232L possibly damaging Het
Or2a52 A G 6: 43,144,846 (GRCm39) N285D probably damaging Het
Or8g17 T C 9: 38,930,253 (GRCm39) N195D probably benign Het
Or9s13 G A 1: 92,548,467 (GRCm39) V280M possibly damaging Het
Parp2 C T 14: 51,048,001 (GRCm39) P76S probably benign Het
Pick1 C T 15: 79,129,501 (GRCm39) H169Y probably benign Het
Prtg T A 9: 72,750,089 (GRCm39) F164L probably benign Het
Pygb A G 2: 150,659,583 (GRCm39) D422G possibly damaging Het
Samd9l C A 6: 3,375,761 (GRCm39) C500F probably benign Het
Sbno1 A C 5: 124,522,567 (GRCm39) N1083K possibly damaging Het
Septin7 C T 9: 25,188,900 (GRCm39) S77F probably damaging Het
Slc25a44 A G 3: 88,323,314 (GRCm39) V264A possibly damaging Het
Slco1a8 C T 6: 141,926,598 (GRCm39) S576N probably benign Het
Slf2 G T 19: 44,930,512 (GRCm39) E530* probably null Het
Svs5 A G 2: 164,079,578 (GRCm39) S110P possibly damaging Het
Tmbim7 G T 5: 3,715,338 (GRCm39) probably null Het
Tpgs2 T C 18: 25,273,630 (GRCm39) D177G probably damaging Het
Uba1y T A Y: 826,893 (GRCm39) F516L probably damaging Het
Ulk1 A G 5: 110,943,632 (GRCm39) V211A probably damaging Het
Vmn1r237 T A 17: 21,534,301 (GRCm39) I8N probably damaging Het
Vmn2r103 G T 17: 20,014,496 (GRCm39) M429I probably benign Het
Vmn2r112 T C 17: 22,833,989 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,227,349 (GRCm39) probably null 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
R1591: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