Incidental Mutation 'R7381:Vwa8'
ID 572757
Institutional Source Beutler Lab
Gene Symbol Vwa8
Ensembl Gene ENSMUSG00000058997
Gene Name von Willebrand factor A domain containing 8
Synonyms 1300010F03Rik, 4932416F07Rik
MMRRC Submission 045463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7381 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 79086492-79439750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79333125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1293 (T1293A)
Ref Sequence ENSEMBL: ENSMUSP00000048925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040990]
AlphaFold Q8CC88
Predicted Effect probably benign
Transcript: ENSMUST00000040990
AA Change: T1293A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: T1293A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (88/90)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,323,122 (GRCm39) Y53H probably damaging Het
Abca8a A T 11: 109,920,913 (GRCm39) probably null Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Acsm3 A G 7: 119,380,049 (GRCm39) D462G probably damaging Het
Adam39 T A 8: 41,279,000 (GRCm39) C464S probably damaging Het
Adgra3 A G 5: 50,216,116 (GRCm39) M1T probably null Het
AI182371 T C 2: 34,975,371 (GRCm39) Y276C probably damaging Het
Ank2 T A 3: 126,730,277 (GRCm39) H719L possibly damaging Het
Ano7 G A 1: 93,323,057 (GRCm39) V466I probably benign Het
Art5 A G 7: 101,747,377 (GRCm39) L134P probably damaging Het
Atcay A G 10: 81,046,431 (GRCm39) Y298H possibly damaging Het
Atp1a4 A T 1: 172,067,682 (GRCm39) F527Y possibly damaging Het
Bpifb2 A T 2: 153,734,268 (GRCm39) M428L probably benign Het
Brinp2 A C 1: 158,073,913 (GRCm39) V736G probably benign Het
Cdc5l C T 17: 45,722,849 (GRCm39) A437T probably benign Het
Cdx2 G A 5: 147,243,440 (GRCm39) P118L possibly damaging Het
Chpt1 G A 10: 88,311,193 (GRCm39) probably null Het
Creb3l2 T A 6: 37,312,783 (GRCm39) E417V probably damaging Het
Csnk2a1 A G 2: 152,100,614 (GRCm39) T129A probably benign Het
Dennd6b A T 15: 89,070,376 (GRCm39) L431Q possibly damaging Het
Dgkz C T 2: 91,775,180 (GRCm39) A260T probably benign Het
Dhx34 T A 7: 15,949,373 (GRCm39) T352S probably benign Het
Elp4 C T 2: 105,622,652 (GRCm39) R349Q not run Het
Emsy A C 7: 98,240,010 (GRCm39) F1228V probably damaging Het
Eps8l1 T A 7: 4,473,437 (GRCm39) probably null Het
Faf1 T A 4: 109,719,134 (GRCm39) D413E probably damaging Het
Fat3 T C 9: 16,158,283 (GRCm39) Y1109C probably damaging Het
Fbp1 T C 13: 63,012,867 (GRCm39) K314E probably benign Het
Fbxl20 A G 11: 97,981,614 (GRCm39) V358A probably benign Het
Fbxo34 C G 14: 47,767,992 (GRCm39) R502G probably benign Het
Fxr2 G A 11: 69,532,875 (GRCm39) C151Y possibly damaging Het
Garin5b C A 7: 4,760,681 (GRCm39) R677L Het
Gja8 T C 3: 96,827,338 (GRCm39) D108G probably benign Het
Gm10722 C A 9: 3,001,235 (GRCm39) L104I probably benign Het
Grsf1 A G 5: 88,813,666 (GRCm39) V361A probably benign Het
Gsap T A 5: 21,431,785 (GRCm39) I228N probably damaging Het
Hagh T C 17: 25,075,686 (GRCm39) I131T probably damaging Het
Heca A T 10: 17,791,272 (GRCm39) Y261* probably null Het
Hipk3 A G 2: 104,269,696 (GRCm39) F498L probably damaging Het
Hps4 T A 5: 112,523,324 (GRCm39) I614N possibly damaging Het
Icam1 T C 9: 20,938,886 (GRCm39) S450P probably benign Het
Il22 G A 10: 118,041,069 (GRCm39) M58I possibly damaging Het
Khdrbs2 T A 1: 32,372,883 (GRCm39) S186T not run Het
Kif16b A G 2: 142,699,343 (GRCm39) F79S probably damaging Het
Kntc1 C A 5: 123,948,971 (GRCm39) F1905L probably benign Het
Liat1 A T 11: 75,893,833 (GRCm39) D70V probably damaging Het
Lrp1b C T 2: 40,692,929 (GRCm39) G3423D Het
Lrp5 G T 19: 3,643,588 (GRCm39) Q1346K probably benign Het
Map3k21 A C 8: 126,671,717 (GRCm39) T1002P possibly damaging Het
Mdga2 G T 12: 66,615,670 (GRCm39) R646S probably benign Het
Mex3b G T 7: 82,518,073 (GRCm39) M129I possibly damaging Het
Mfsd10 G T 5: 34,793,770 (GRCm39) N85K probably damaging Het
Mios A G 6: 8,216,064 (GRCm39) D420G probably damaging Het
Mogs C A 6: 83,092,613 (GRCm39) P18T unknown Het
Mrgpre A G 7: 143,335,150 (GRCm39) C118R probably damaging Het
Muc4 A T 16: 32,601,285 (GRCm39) H1321L Het
Nkapl T C 13: 21,651,759 (GRCm39) K285E probably damaging Het
Nphp4 C T 4: 152,583,460 (GRCm39) P200S possibly damaging Het
Piezo1 A G 8: 123,228,397 (GRCm39) F297L Het
Pkhd1 T G 1: 20,271,197 (GRCm39) S3119R probably damaging Het
Pla2g15 G A 8: 106,889,576 (GRCm39) V283I probably benign Het
Ppp1r13l T A 7: 19,102,786 (GRCm39) probably null Het
Prex1 A G 2: 166,429,047 (GRCm39) Y849H probably damaging Het
Psg27 C A 7: 18,301,008 (GRCm39) W15L probably benign Het
Ptar1 A T 19: 23,686,334 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,135 (GRCm39) R264C probably damaging Het
Ptprb A G 10: 116,177,038 (GRCm39) I988V probably benign Het
Ptpro G A 6: 137,376,559 (GRCm39) V680I possibly damaging Het
Rnf170 C T 8: 26,613,876 (GRCm39) P28S probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Rtel1 C T 2: 180,972,608 (GRCm39) R29* probably null Het
Rtkn T C 6: 83,128,726 (GRCm39) L26P probably damaging Het
Sdk2 A C 11: 113,729,315 (GRCm39) S1087R probably damaging Het
Sema7a C T 9: 57,860,852 (GRCm39) P71L probably benign Het
Sgpp1 C T 12: 75,763,038 (GRCm39) C381Y probably damaging Het
Sis A T 3: 72,820,625 (GRCm39) probably null Het
Slc24a5 A C 2: 124,910,869 (GRCm39) D100A probably benign Het
Slc25a23 A T 17: 57,360,587 (GRCm39) I251K probably damaging Het
Slc6a5 T A 7: 49,579,804 (GRCm39) L394H probably damaging Het
Slc7a4 A T 16: 17,392,920 (GRCm39) M293K probably damaging Het
Syne2 T A 12: 75,973,263 (GRCm39) S1089T probably benign Het
Tanc1 A T 2: 59,615,670 (GRCm39) T226S probably damaging Het
Tdrd6 T C 17: 43,936,984 (GRCm39) T1355A probably benign Het
Tmem101 A G 11: 102,044,176 (GRCm39) M237T possibly damaging Het
Ttn G A 2: 76,749,359 (GRCm39) H3897Y possibly damaging Het
Tubb4a C T 17: 57,387,698 (GRCm39) V443M unknown Het
Ucp2 G A 7: 100,147,576 (GRCm39) R185H possibly damaging Het
Vmn1r116 G T 7: 20,606,436 (GRCm39) E86* probably null Het
Vmn2r37 T C 7: 9,213,032 (GRCm39) E530G probably benign Het
Zfc3h1 T A 10: 115,260,535 (GRCm39) Y1711N probably benign Het
Zfp873 A T 10: 81,896,805 (GRCm39) E512V probably damaging Het
Zfyve16 T A 13: 92,657,654 (GRCm39) K752N probably damaging Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly 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
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
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'- AACTGTGCCTGTCTTGTATAGG -3'
(R):5'- TCACACAGACTGATGCTCCTG -3'

Sequencing Primer
(F):5'- TCTCTTTACAGTATTGTTGAAAAGGG -3'
(R):5'- ACACAGACTGATGCTCCTGTTCTC -3'
Posted On 2019-09-13