Incidental Mutation 'R6244:Vwa8'
ID 505486
Institutional Source Beutler Lab
Gene Symbol Vwa8
Ensembl Gene ENSMUSG00000058997
Gene Name von Willebrand factor A domain containing 8
Synonyms 4932416F07Rik, 1300010F03Rik
MMRRC Submission 044435-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6244 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 78849052-79202310 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79086662 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1135 (V1135A)
Ref Sequence ENSEMBL: ENSMUSP00000048925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040990]
AlphaFold Q8CC88
Predicted Effect probably benign
Transcript: ENSMUST00000040990
AA Change: V1135A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: V1135A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 96% (82/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,956,999 (GRCm38) V1782A probably benign Het
6430550D23Rik T C 2: 156,003,230 (GRCm38) H113R possibly damaging Het
Adgrf3 A T 5: 30,197,533 (GRCm38) M499K probably benign Het
Adgrv1 G A 13: 81,106,931 (GRCm38) T211I probably damaging Het
Adss C T 1: 177,776,829 (GRCm38) E153K probably benign Het
Ago4 C A 4: 126,511,487 (GRCm38) G431V possibly damaging Het
Araf G T X: 20,860,100 (GRCm38) R601L probably damaging Homo
Atp2b4 T A 1: 133,726,561 (GRCm38) I769F probably damaging Het
Atp9a T C 2: 168,689,352 (GRCm38) probably null Het
Brap C A 5: 121,665,309 (GRCm38) D173E probably benign Het
Brca2 G T 5: 150,566,978 (GRCm38) R3035L probably benign Het
Ccdc8 C A 7: 16,996,251 (GRCm38) P555Q probably benign Het
Ccser2 A G 14: 36,940,718 (GRCm38) S170P probably benign Het
Celsr2 T C 3: 108,393,128 (GRCm38) H860R probably damaging Het
Cenpc1 C A 5: 86,046,385 (GRCm38) R174M probably damaging Het
Cfap57 T G 4: 118,579,410 (GRCm38) I930L probably damaging Het
Cx3cr1 C T 9: 120,051,694 (GRCm38) R214H probably damaging Het
Cyp4f14 T A 17: 32,906,317 (GRCm38) H429L probably benign Het
D5Ertd579e A G 5: 36,615,276 (GRCm38) F592L probably damaging Het
Ddb1 A G 19: 10,625,923 (GRCm38) E865G probably damaging Het
Ddx50 A T 10: 62,621,566 (GRCm38) probably null Het
Dpp6 A G 5: 27,049,628 (GRCm38) T14A probably damaging Het
Echs1 C A 7: 140,113,069 (GRCm38) Q51H possibly damaging Het
Ecm2 A T 13: 49,530,307 (GRCm38) D587V probably damaging Het
Ect2l A T 10: 18,140,397 (GRCm38) Y666N possibly damaging Het
Epha2 G A 4: 141,316,912 (GRCm38) G342S probably benign Het
Fbxo33 C A 12: 59,206,079 (GRCm38) K211N probably benign Het
Fchsd2 A G 7: 101,259,776 (GRCm38) probably null Het
Fen1 A G 19: 10,200,687 (GRCm38) V131A probably damaging Het
Fetub C T 16: 22,932,331 (GRCm38) R143C probably damaging Het
Flnb A G 14: 7,892,092 (GRCm38) E587G probably damaging Het
Foxd3 A G 4: 99,657,240 (GRCm38) T206A possibly damaging Het
Fut1 A G 7: 45,619,306 (GRCm38) E228G possibly damaging Het
Galnt13 T C 2: 54,933,548 (GRCm38) F379L probably damaging Het
Gcnt2 A C 13: 40,861,241 (GRCm38) E296A probably damaging Het
Gm7145 T A 1: 117,986,140 (GRCm38) C251S probably damaging Het
Gpam G A 19: 55,070,985 (GRCm38) P810L probably damaging Het
Il1rl2 T A 1: 40,327,566 (GRCm38) L87M possibly damaging Het
Itgae A G 11: 73,145,601 (GRCm38) S1122G probably damaging Het
Kcnh7 T A 2: 63,182,226 (GRCm38) D46V probably damaging Het
Kcnn3 T G 3: 89,645,523 (GRCm38) Y511* probably null Het
Kdm3b T A 18: 34,793,005 (GRCm38) I66N probably damaging Het
Klk1b27 A T 7: 44,054,550 (GRCm38) H39L probably benign Het
Kmo C T 1: 175,659,695 (GRCm38) T404I possibly damaging Het
Krt222 C T 11: 99,235,058 (GRCm38) probably null Het
Magi3 G C 3: 104,015,697 (GRCm38) H1235D probably benign Het
Mapk8ip1 C A 2: 92,389,244 (GRCm38) G81C probably damaging Het
Med15 G A 16: 17,652,745 (GRCm38) Q583* probably null Het
Mroh2a T C 1: 88,256,754 (GRCm38) V1453A probably benign Het
Myh13 A G 11: 67,362,501 (GRCm38) M1488V probably benign Het
Naip2 A T 13: 100,152,137 (GRCm38) F1193L probably damaging Het
Nop58 T A 1: 59,702,855 (GRCm38) M181K probably damaging Het
Npepps A T 11: 97,213,790 (GRCm38) V796D probably damaging Het
Nr1d1 A G 11: 98,770,537 (GRCm38) F301S probably damaging Het
Nynrin G A 14: 55,868,028 (GRCm38) V832I probably damaging Het
Olfr1046 T A 2: 86,217,222 (GRCm38) T163S possibly damaging Het
Olfr1508 T A 14: 52,463,895 (GRCm38) Y38F probably damaging Het
Olfr320 A T 11: 58,684,004 (GRCm38) T44S possibly damaging Het
Olfr342 T A 2: 36,528,341 (GRCm38) C310S probably benign Het
Olfr61 C A 7: 140,638,433 (GRCm38) S244Y probably damaging Het
Phrf1 T A 7: 141,237,673 (GRCm38) C132S probably damaging Het
Plekhn1 T C 4: 156,230,558 (GRCm38) probably null Het
Polr2a G A 11: 69,744,226 (GRCm38) T569M probably damaging Het
Prr29 A G 11: 106,376,632 (GRCm38) probably null Het
Rsf1 CG CGACGGCGGAG 7: 97,579,908 (GRCm38) probably benign Homo
Sc5d T C 9: 42,255,421 (GRCm38) E274G probably benign Het
Serpina1d A T 12: 103,764,828 (GRCm38) probably null Het
Serpinb11 T A 1: 107,372,242 (GRCm38) I106N probably damaging Het
Setd2 G A 9: 110,548,665 (GRCm38) R516K probably damaging Het
Sirt2 G T 7: 28,787,797 (GRCm38) C291F probably damaging Het
Stac3 T C 10: 127,508,175 (GRCm38) V314A probably damaging Het
Stat6 C T 10: 127,657,712 (GRCm38) probably null Het
Strn3 A G 12: 51,610,107 (GRCm38) V712A probably damaging Het
Tmc5 G T 7: 118,634,214 (GRCm38) G84C possibly damaging Het
Tnik C A 3: 28,650,179 (GRCm38) L996I probably damaging Het
Trim30d G T 7: 104,487,610 (GRCm38) T129K probably damaging Het
Triml1 G T 8: 43,138,756 (GRCm38) Y188* probably null Het
Trpc7 A G 13: 56,773,892 (GRCm38) Y760H probably damaging Het
Uaca G A 9: 60,870,044 (GRCm38) R571Q probably damaging Het
Ubash3a A T 17: 31,239,272 (GRCm38) Q575L possibly damaging Het
Usp49 T A 17: 47,672,902 (GRCm38) C61* probably null Het
Vmn2r18 A T 5: 151,584,651 (GRCm38) V336E probably damaging Het
Zcchc4 T C 5: 52,783,161 (GRCm38) V24A probably benign Het
Zfp354c A G 11: 50,814,971 (GRCm38) Y426H probably benign Het
Other mutations in Vwa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Vwa8 APN 14 79,038,195 (GRCm38) missense probably damaging 1.00
IGL01087:Vwa8 APN 14 78,935,229 (GRCm38) missense probably benign 0.16
IGL01137:Vwa8 APN 14 79,103,647 (GRCm38) missense probably damaging 1.00
IGL01359:Vwa8 APN 14 79,064,913 (GRCm38) nonsense probably null
IGL01449:Vwa8 APN 14 79,182,988 (GRCm38) nonsense probably null
IGL01604:Vwa8 APN 14 79,180,804 (GRCm38) missense possibly damaging 0.82
IGL01636:Vwa8 APN 14 79,198,354 (GRCm38) missense possibly damaging 0.68
IGL01815:Vwa8 APN 14 79,198,277 (GRCm38) missense possibly damaging 0.92
IGL02024:Vwa8 APN 14 79,094,284 (GRCm38) missense possibly damaging 0.91
IGL02033:Vwa8 APN 14 78,984,209 (GRCm38) missense possibly damaging 0.89
IGL02154:Vwa8 APN 14 78,849,293 (GRCm38) missense possibly damaging 0.53
IGL02286:Vwa8 APN 14 78,947,273 (GRCm38) critical splice donor site probably null
IGL02393:Vwa8 APN 14 79,182,977 (GRCm38) missense probably damaging 1.00
IGL02430:Vwa8 APN 14 78,934,645 (GRCm38) critical splice donor site probably null
IGL02476:Vwa8 APN 14 78,925,341 (GRCm38) missense possibly damaging 0.62
IGL02612:Vwa8 APN 14 79,183,112 (GRCm38) missense probably benign 0.01
IGL02678:Vwa8 APN 14 78,984,200 (GRCm38) missense probably damaging 0.99
IGL02797:Vwa8 APN 14 78,925,262 (GRCm38) missense probably benign 0.29
IGL02806:Vwa8 APN 14 79,157,088 (GRCm38) missense probably benign 0.35
IGL02811:Vwa8 APN 14 78,994,459 (GRCm38) missense probably benign 0.21
IGL02892:Vwa8 APN 14 79,103,700 (GRCm38) splice site probably benign
IGL03024:Vwa8 APN 14 78,995,098 (GRCm38) missense probably benign 0.03
IGL03075:Vwa8 APN 14 78,933,756 (GRCm38) missense probably damaging 0.99
IGL03090:Vwa8 APN 14 78,934,601 (GRCm38) missense possibly damaging 0.92
IGL03124:Vwa8 APN 14 79,058,815 (GRCm38) splice site probably benign
IGL03181:Vwa8 APN 14 79,009,250 (GRCm38) missense probably benign 0.01
IGL03296:Vwa8 APN 14 79,183,100 (GRCm38) missense probably damaging 0.98
IGL03376:Vwa8 APN 14 79,183,134 (GRCm38) splice site probably null
R6812_Vwa8_870 UTSW 14 79,197,419 (GRCm38) missense probably damaging 0.99
IGL03052:Vwa8 UTSW 14 79,064,921 (GRCm38) missense probably benign 0.02
PIT4468001:Vwa8 UTSW 14 79,183,061 (GRCm38) missense probably damaging 1.00
R0049:Vwa8 UTSW 14 79,093,739 (GRCm38) missense probably benign 0.21
R0063:Vwa8 UTSW 14 79,164,216 (GRCm38) splice site probably benign
R0063:Vwa8 UTSW 14 79,164,216 (GRCm38) splice site probably benign
R0081:Vwa8 UTSW 14 79,082,782 (GRCm38) missense probably benign 0.02
R0305:Vwa8 UTSW 14 79,009,273 (GRCm38) missense probably damaging 1.00
R0433:Vwa8 UTSW 14 79,062,676 (GRCm38) missense probably damaging 1.00
R0514:Vwa8 UTSW 14 78,947,189 (GRCm38) missense probably benign
R0602:Vwa8 UTSW 14 79,020,620 (GRCm38) missense probably benign 0.00
R0615:Vwa8 UTSW 14 78,908,150 (GRCm38) missense probably benign
R0791:Vwa8 UTSW 14 78,994,576 (GRCm38) splice site probably benign
R1028:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1037:Vwa8 UTSW 14 79,086,654 (GRCm38) nonsense probably null
R1404:Vwa8 UTSW 14 79,026,031 (GRCm38) missense probably damaging 1.00
R1404:Vwa8 UTSW 14 79,026,031 (GRCm38) missense probably damaging 1.00
R1412:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1421:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1467:Vwa8 UTSW 14 79,103,694 (GRCm38) nonsense probably null
R1467:Vwa8 UTSW 14 79,103,694 (GRCm38) nonsense probably null
R1539:Vwa8 UTSW 14 79,062,562 (GRCm38) missense probably benign 0.00
R1556:Vwa8 UTSW 14 79,086,681 (GRCm38) missense probably benign
R1589:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1590:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1591:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1645:Vwa8 UTSW 14 79,182,987 (GRCm38) missense probably damaging 1.00
R1673:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R1688:Vwa8 UTSW 14 79,201,103 (GRCm38) missense possibly damaging 0.72
R1764:Vwa8 UTSW 14 78,908,195 (GRCm38) missense probably damaging 1.00
R1830:Vwa8 UTSW 14 79,081,136 (GRCm38) missense probably benign 0.04
R1926:Vwa8 UTSW 14 79,020,635 (GRCm38) missense probably benign 0.00
R1959:Vwa8 UTSW 14 78,982,360 (GRCm38) missense possibly damaging 0.95
R1971:Vwa8 UTSW 14 78,925,254 (GRCm38) splice site probably benign
R2078:Vwa8 UTSW 14 78,908,157 (GRCm38) missense probably damaging 1.00
R2103:Vwa8 UTSW 14 78,908,230 (GRCm38) missense probably damaging 1.00
R2230:Vwa8 UTSW 14 79,092,403 (GRCm38) critical splice donor site probably null
R2281:Vwa8 UTSW 14 79,064,996 (GRCm38) missense possibly damaging 0.91
R2313:Vwa8 UTSW 14 78,912,218 (GRCm38) missense probably damaging 0.98
R2847:Vwa8 UTSW 14 78,947,142 (GRCm38) missense probably benign 0.00
R2848:Vwa8 UTSW 14 78,947,142 (GRCm38) missense probably benign 0.00
R2894:Vwa8 UTSW 14 79,038,138 (GRCm38) missense probably damaging 1.00
R2991:Vwa8 UTSW 14 78,995,149 (GRCm38) missense probably benign 0.00
R3077:Vwa8 UTSW 14 79,098,342 (GRCm38) missense probably benign 0.03
R3405:Vwa8 UTSW 14 79,164,220 (GRCm38) splice site probably benign
R3406:Vwa8 UTSW 14 79,164,220 (GRCm38) splice site probably benign
R3708:Vwa8 UTSW 14 79,062,696 (GRCm38) splice site probably benign
R3779:Vwa8 UTSW 14 79,102,322 (GRCm38) splice site probably benign
R3799:Vwa8 UTSW 14 79,064,896 (GRCm38) missense probably damaging 0.99
R4230:Vwa8 UTSW 14 79,082,852 (GRCm38) missense probably benign 0.00
R4425:Vwa8 UTSW 14 79,082,806 (GRCm38) missense probably benign 0.00
R4478:Vwa8 UTSW 14 78,868,801 (GRCm38) missense probably benign 0.00
R4627:Vwa8 UTSW 14 79,103,697 (GRCm38) critical splice donor site probably null
R4835:Vwa8 UTSW 14 78,934,613 (GRCm38) missense probably benign 0.11
R4868:Vwa8 UTSW 14 79,183,082 (GRCm38) missense probably damaging 1.00
R4988:Vwa8 UTSW 14 79,198,283 (GRCm38) missense probably benign 0.05
R5137:Vwa8 UTSW 14 79,064,902 (GRCm38) missense probably damaging 1.00
R5156:Vwa8 UTSW 14 78,984,226 (GRCm38) missense probably benign 0.00
R5658:Vwa8 UTSW 14 78,982,398 (GRCm38) critical splice donor site probably null
R5841:Vwa8 UTSW 14 78,994,518 (GRCm38) missense probably benign
R6057:Vwa8 UTSW 14 79,082,873 (GRCm38) missense probably benign 0.21
R6264:Vwa8 UTSW 14 79,086,812 (GRCm38) missense possibly damaging 0.64
R6290:Vwa8 UTSW 14 79,094,332 (GRCm38) splice site probably null
R6332:Vwa8 UTSW 14 79,197,464 (GRCm38) missense probably benign
R6395:Vwa8 UTSW 14 79,093,744 (GRCm38) missense probably benign 0.02
R6472:Vwa8 UTSW 14 79,009,170 (GRCm38) missense possibly damaging 0.71
R6497:Vwa8 UTSW 14 79,096,401 (GRCm38) missense probably benign 0.00
R6527:Vwa8 UTSW 14 78,947,213 (GRCm38) missense possibly damaging 0.73
R6552:Vwa8 UTSW 14 79,198,222 (GRCm38) missense possibly damaging 0.80
R6812:Vwa8 UTSW 14 79,197,419 (GRCm38) missense probably damaging 0.99
R6994:Vwa8 UTSW 14 78,908,156 (GRCm38) missense possibly damaging 0.90
R7040:Vwa8 UTSW 14 78,912,205 (GRCm38) missense probably damaging 1.00
R7357:Vwa8 UTSW 14 79,038,201 (GRCm38) missense probably null 1.00
R7363:Vwa8 UTSW 14 79,018,707 (GRCm38) missense probably benign 0.05
R7381:Vwa8 UTSW 14 79,095,685 (GRCm38) missense probably benign 0.00
R7406:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7408:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7409:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7410:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7483:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7484:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7491:Vwa8 UTSW 14 79,082,814 (GRCm38) missense probably benign 0.24
R7500:Vwa8 UTSW 14 78,925,246 (GRCm38) splice site probably null
R7514:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7582:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7584:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7585:Vwa8 UTSW 14 78,982,234 (GRCm38) critical splice acceptor site probably null
R7647:Vwa8 UTSW 14 78,935,229 (GRCm38) missense probably damaging 0.99
R7685:Vwa8 UTSW 14 79,098,300 (GRCm38) missense probably benign
R7703:Vwa8 UTSW 14 79,026,073 (GRCm38) missense probably damaging 1.00
R7730:Vwa8 UTSW 14 78,995,149 (GRCm38) missense probably benign 0.00
R7775:Vwa8 UTSW 14 79,038,147 (GRCm38) missense probably benign 0.03
R7778:Vwa8 UTSW 14 79,038,147 (GRCm38) missense probably benign 0.03
R7824:Vwa8 UTSW 14 79,038,147 (GRCm38) missense probably benign 0.03
R7885:Vwa8 UTSW 14 79,020,649 (GRCm38) missense probably benign 0.00
R7902:Vwa8 UTSW 14 79,092,291 (GRCm38) missense probably benign 0.00
R8262:Vwa8 UTSW 14 78,933,832 (GRCm38) critical splice donor site probably null
R8458:Vwa8 UTSW 14 79,064,892 (GRCm38) missense probably damaging 1.00
R8495:Vwa8 UTSW 14 78,937,177 (GRCm38) nonsense probably null
R8557:Vwa8 UTSW 14 79,009,209 (GRCm38) missense probably damaging 1.00
R8841:Vwa8 UTSW 14 78,947,262 (GRCm38) missense probably benign 0.04
R8906:Vwa8 UTSW 14 79,092,375 (GRCm38) missense probably benign 0.00
R8947:Vwa8 UTSW 14 79,201,112 (GRCm38) missense probably damaging 1.00
R9034:Vwa8 UTSW 14 79,058,739 (GRCm38) missense probably damaging 1.00
R9051:Vwa8 UTSW 14 79,086,710 (GRCm38) missense probably benign 0.00
R9179:Vwa8 UTSW 14 79,098,361 (GRCm38) missense probably benign
R9433:Vwa8 UTSW 14 79,098,431 (GRCm38) critical splice donor site probably null
R9455:Vwa8 UTSW 14 79,062,675 (GRCm38) missense probably damaging 1.00
R9496:Vwa8 UTSW 14 79,020,682 (GRCm38) missense probably benign
R9530:Vwa8 UTSW 14 78,935,199 (GRCm38) missense probably benign 0.33
R9584:Vwa8 UTSW 14 79,157,109 (GRCm38) missense probably benign
R9763:Vwa8 UTSW 14 78,949,548 (GRCm38) missense probably damaging 1.00
Z1088:Vwa8 UTSW 14 78,982,246 (GRCm38) missense probably benign 0.38
Z1177:Vwa8 UTSW 14 79,058,692 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGGAACAGAGGTTTTCAGCC -3'
(R):5'- CGCCCTGGATCTTTCTGAAC -3'

Sequencing Primer
(F):5'- CAGAGGTTTTCAGCCTGATAAACC -3'
(R):5'- CTCAGGTTTTCAATCATAGCTGACG -3'
Posted On 2018-02-28