Incidental Mutation 'R1926:Vwa8'
ID 213476
Institutional Source Beutler Lab
Gene Symbol Vwa8
Ensembl Gene ENSMUSG00000058997
Gene Name von Willebrand factor A domain containing 8
Synonyms 1300010F03Rik, 4932416F07Rik
MMRRC Submission 039944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1926 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 79086492-79439750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79258075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 741 (N741K)
Ref Sequence ENSEMBL: ENSMUSP00000154270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040990] [ENSMUST00000227255]
AlphaFold Q8CC88
Predicted Effect probably benign
Transcript: ENSMUST00000040990
AA Change: N741K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: N741K

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 benign
Transcript: ENSMUST00000227255
AA Change: N741K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 C T 7: 119,376,359 (GRCm39) T362M probably damaging Het
Ang6 A G 14: 44,239,695 (GRCm39) V11A possibly damaging Het
Ankrd17 A G 5: 90,392,028 (GRCm39) Y1880H probably damaging Het
Bmi1 A G 2: 18,687,084 (GRCm39) I55V probably benign Het
Bnipl G A 3: 95,150,354 (GRCm39) T297M probably damaging Het
Bpifa2 T C 2: 153,855,669 (GRCm39) V198A probably benign Het
Brms1l G T 12: 55,909,946 (GRCm39) V239F possibly damaging Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Ces1c A G 8: 93,854,232 (GRCm39) F101S possibly damaging Het
Cpb2 T C 14: 75,479,837 (GRCm39) Y15H probably benign Het
Dglucy A T 12: 100,833,414 (GRCm39) N535I possibly damaging Het
Dop1a C A 9: 86,405,072 (GRCm39) H1763Q probably damaging Het
Dpy19l1 C T 9: 24,385,120 (GRCm39) M236I probably benign Het
Efna2 T C 10: 80,022,710 (GRCm39) Y85H probably damaging Het
Eipr1 A T 12: 28,914,836 (GRCm39) probably null Het
Eln A T 5: 134,735,421 (GRCm39) Y787* probably null Het
Erbb2 G C 11: 98,315,990 (GRCm39) E364D probably benign Het
F5 A G 1: 164,007,077 (GRCm39) T294A probably damaging Het
Fam47e A G 5: 92,733,244 (GRCm39) T194A possibly damaging Het
Galk1 T C 11: 115,901,073 (GRCm39) D202G probably damaging Het
Glb1l2 T C 9: 26,682,362 (GRCm39) D163G probably damaging Het
Gmip A G 8: 70,268,170 (GRCm39) E408G probably benign Het
Gp1ba A T 11: 70,531,715 (GRCm39) probably benign Het
Grm3 A T 5: 9,554,881 (GRCm39) C804S probably damaging Het
Gzmd A G 14: 56,367,737 (GRCm39) C179R probably damaging Het
Hadhb T A 5: 30,385,935 (GRCm39) L415Q possibly damaging Het
Ift80 T C 3: 68,823,498 (GRCm39) Y588C probably damaging Het
Jazf1 T C 6: 53,045,516 (GRCm39) T13A probably benign Het
Kat8 T A 7: 127,514,467 (GRCm39) Y67* probably null Het
Kcnab1 G A 3: 65,283,933 (GRCm39) E384K possibly damaging Het
Lhx3 A T 2: 26,092,200 (GRCm39) Y230* probably null Het
Lmx1b T A 2: 33,454,674 (GRCm39) M365L probably damaging Het
Ly6k G T 15: 74,669,051 (GRCm39) P76Q probably benign Het
Lypd10 G A 7: 24,413,541 (GRCm39) G186R probably damaging Het
Map1b A T 13: 99,567,200 (GRCm39) H1840Q unknown Het
Map3k2 A G 18: 32,336,163 (GRCm39) I117V probably damaging Het
Med13 C A 11: 86,179,899 (GRCm39) A1350S possibly damaging Het
Midn T C 10: 79,987,495 (GRCm39) S109P probably damaging Het
Msh6 A G 17: 88,293,653 (GRCm39) T803A probably benign Het
Nckap1 T C 2: 80,337,182 (GRCm39) Y1018C probably damaging Het
Ndufc1 A T 3: 51,314,816 (GRCm39) N63K probably benign Het
Neb A T 2: 52,169,647 (GRCm39) S1811R probably damaging Het
Notch1 T C 2: 26,371,669 (GRCm39) D260G probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Oas1g T C 5: 121,017,205 (GRCm39) K283R probably benign Het
Obscn T C 11: 58,954,300 (GRCm39) T4037A Het
Or6b1 T G 6: 42,815,247 (GRCm39) L144R probably damaging Het
Or6b3 A G 1: 92,439,330 (GRCm39) L140P probably damaging Het
Otop2 A T 11: 115,217,781 (GRCm39) T206S probably benign Het
Pamr1 A G 2: 102,471,342 (GRCm39) probably null Het
Pkp1 G A 1: 135,805,411 (GRCm39) T675I probably benign Het
Plxna2 G A 1: 194,444,758 (GRCm39) V717I probably benign Het
Ptgs2 T C 1: 149,975,979 (GRCm39) L2P possibly damaging Het
Rarg A G 15: 102,147,980 (GRCm39) F277S probably damaging Het
Rassf5 A T 1: 131,140,076 (GRCm39) I161N probably damaging Het
Resf1 C T 6: 149,230,902 (GRCm39) T1316I probably benign Het
Rxfp4 A G 3: 88,559,659 (GRCm39) V264A probably benign Het
Secisbp2l T A 2: 125,582,597 (GRCm39) Q953L probably damaging Het
Serpinb9c T C 13: 33,334,218 (GRCm39) I275V probably benign Het
Slc2a12 T C 10: 22,541,141 (GRCm39) V332A probably damaging Het
Slc7a1 T C 5: 148,285,113 (GRCm39) S127G probably damaging Het
Slc7a4 A T 16: 17,393,568 (GRCm39) V77E probably damaging Het
Sp8 G A 12: 118,812,964 (GRCm39) S273N possibly damaging Het
Spag6l G T 16: 16,580,921 (GRCm39) N475K probably benign Het
St18 A G 1: 6,872,913 (GRCm39) H216R probably benign Het
Tcirg1 C T 19: 3,952,843 (GRCm39) probably benign Het
Tmeff1 A G 4: 48,658,788 (GRCm39) Y87C probably damaging Het
Tmem94 T C 11: 115,683,726 (GRCm39) V713A possibly damaging Het
Tnrc6b G T 15: 80,765,363 (GRCm39) R955L probably damaging Het
Trip12 A G 1: 84,727,012 (GRCm39) V1153A probably damaging Het
Tshz3 T C 7: 36,468,800 (GRCm39) L263S probably damaging Het
Tubb6 G A 18: 67,534,391 (GRCm39) probably null Het
Ube3a T C 7: 58,926,127 (GRCm39) W302R probably damaging Het
Vcpkmt A T 12: 69,629,519 (GRCm39) V81E probably damaging Het
Vmn1r175 T A 7: 23,508,466 (GRCm39) I54F possibly damaging Het
Yeats2 A G 16: 20,033,176 (GRCm39) T1034A probably benign Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp207 T A 11: 80,286,253 (GRCm39) Y424* probably null Het
Zfp729a A G 13: 67,767,676 (GRCm39) V851A probably benign Het
Zkscan1 G T 5: 138,099,625 (GRCm39) A450S probably benign Het
Zkscan3 A G 13: 21,580,616 (GRCm39) V24A 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
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'- TTAAATCCTGAAGACCTGGAGG -3'
(R):5'- GCAGTAACTCCTCTAATTTTGACC -3'

Sequencing Primer
(F):5'- AGGTTACAGAGGCCACCTTGTG -3'
(R):5'- CTCCTCTAATTTTGACCATTAGAAGG -3'
Posted On 2014-07-14