Incidental Mutation 'R9128:Vwf'
ID 693398
Institutional Source Beutler Lab
Gene Symbol Vwf
Ensembl Gene ENSMUSG00000001930
Gene Name Von Willebrand factor
Synonyms 6820430P06Rik, B130011O06Rik
MMRRC Submission 068927-MU
Accession Numbers

Genbank: NM_011708; MGI: 98941

Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R9128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 125546774-125686679 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125642730 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1457 (L1457P)
Ref Sequence ENSEMBL: ENSMUSP00000107873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112254]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: L1457P

DomainStartEndE-ValueType
VWD 23 181 3.43e-35 SMART
C8 221 295 1.11e-21 SMART
Pfam:TIL 298 351 6.9e-15 PFAM
VWC 353 413 8.71e-1 SMART
VWD 380 543 2.93e-52 SMART
C8 580 652 3.82e-25 SMART
Pfam:TIL 655 710 4.1e-14 PFAM
EGF_like 790 825 4.37e1 SMART
VWC 832 901 3.29e-3 SMART
VWD 859 1015 5.15e-39 SMART
C8 1056 1130 1.01e-33 SMART
Pfam:TIL 1144 1199 1.3e-9 PFAM
VWA 1278 1461 1.81e-20 SMART
low complexity region 1464 1477 N/A INTRINSIC
VWA 1499 1672 8.43e-39 SMART
VWA 1692 1875 2.83e-31 SMART
VWC 1882 1949 2.99e0 SMART
VWD 1941 2104 5.03e-42 SMART
C8 2135 2203 1.29e-13 SMART
Pfam:TIL 2206 2257 8.3e-8 PFAM
VWC 2260 2328 3.16e-16 SMART
low complexity region 2417 2428 N/A INTRINSIC
VWC 2434 2497 2.61e-17 SMART
VWC 2513 2577 3.37e0 SMART
VWC 2585 2647 2.55e-11 SMART
CT 2730 2815 1.37e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood. [provided by MGI curators]
Allele List at MGI

All alleles(33) : Targeted, knock-out(1) Gene trapped(32)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 80,002,518 (GRCm38) V542A possibly damaging Het
Abhd8 G T 8: 71,461,745 (GRCm38) R80S probably benign Het
Actc1 T C 2: 114,050,465 (GRCm38) Y93C possibly damaging Het
Actn4 G T 7: 28,894,504 (GRCm38) D859E possibly damaging Het
Adcy2 C T 13: 68,625,808 (GRCm38) G1039R probably damaging Het
Als2 A G 1: 59,180,550 (GRCm38) M1202T probably benign Het
Aste1 T A 9: 105,396,709 (GRCm38) Y49* probably null Het
Atp8b4 T C 2: 126,392,830 (GRCm38) D422G probably benign Het
Bag6 T A 17: 35,144,712 (GRCm38) S791T probably damaging Het
Bivm T A 1: 44,128,789 (GRCm38) W222R probably null Het
Bod1l A C 5: 41,788,923 (GRCm38) V3003G probably benign Het
Bsn T C 9: 108,116,150 (GRCm38) D801G probably benign Het
Ccdc14 G A 16: 34,706,789 (GRCm38) D403N probably damaging Het
Cenpj T A 14: 56,542,862 (GRCm38) E964V probably damaging Het
Cep250 C T 2: 155,970,122 (GRCm38) A446V unknown Het
Clca3a1 G A 3: 144,758,034 (GRCm38) R161W probably damaging Het
Dcxr A T 11: 120,726,546 (GRCm38) V57E Het
Dnah17 T G 11: 118,046,178 (GRCm38) N3400T possibly damaging Het
Dnaja3 C T 16: 4,702,300 (GRCm38) T444I possibly damaging Het
Dopey1 T C 9: 86,513,155 (GRCm38) S772P probably benign Het
Ednrb T C 14: 103,843,092 (GRCm38) N129D probably damaging Het
Ep300 T A 15: 81,649,745 (GRCm38) M2001K unknown Het
Fam3b A G 16: 97,501,000 (GRCm38) I8T probably benign Het
Fam98c A T 7: 29,154,690 (GRCm38) S85T Het
Fat1 G A 8: 45,009,841 (GRCm38) V1232I probably benign Het
Fzd3 T A 14: 65,212,177 (GRCm38) Y484F probably damaging Het
Gm13023 T A 4: 143,793,608 (GRCm38) S141T probably benign Het
H3f3a T C 1: 180,803,095 (GRCm38) I131M possibly damaging Het
Ifi206 A T 1: 173,471,456 (GRCm38) D861E unknown Het
Ihh T C 1: 74,946,339 (GRCm38) Y329C probably damaging Het
Jak2 A G 19: 29,301,062 (GRCm38) N909D probably damaging Het
Krtap12-1 C A 10: 77,720,789 (GRCm38) C55* probably null Het
Mical2 A C 7: 112,271,382 (GRCm38) K26T possibly damaging Het
Mpp5 A G 12: 78,797,058 (GRCm38) E12G probably benign Het
Mreg T C 1: 72,192,057 (GRCm38) T81A probably benign Het
Muc16 T C 9: 18,647,582 (GRCm38) T2472A unknown Het
Nanos3 A T 8: 84,176,451 (GRCm38) D27E probably benign Het
Nox3 T G 17: 3,669,861 (GRCm38) S350R probably damaging Het
Olfr1049 T A 2: 86,255,678 (GRCm38) N5I probably damaging Het
Olfr734 A G 14: 50,320,757 (GRCm38) V26A probably benign Het
Pafah2 C T 4: 134,419,970 (GRCm38) T310M probably damaging Het
Pianp A G 6: 125,000,695 (GRCm38) I185V probably benign Het
Pja2 T C 17: 64,309,475 (GRCm38) T142A probably benign Het
Poln G A 5: 34,014,314 (GRCm38) P747L probably damaging Het
Rdx T A 9: 52,064,879 (GRCm38) L39* probably null Het
Rnf146 A G 10: 29,347,543 (GRCm38) W116R probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,579,909 (GRCm38) probably benign Het
Sec24d A G 3: 123,294,161 (GRCm38) T224A probably benign Het
Serpinb9 T A 13: 33,006,703 (GRCm38) I54K possibly damaging Het
Slc25a13 A T 6: 6,109,987 (GRCm38) L324Q probably null Het
Slc9c1 T C 16: 45,580,127 (GRCm38) L700P probably benign Het
Snta1 T C 2: 154,380,936 (GRCm38) K289R probably benign Het
Sppl2a A G 2: 126,923,473 (GRCm38) F243S probably damaging Het
Syne1 T C 10: 5,108,556 (GRCm38) E7319G probably benign Het
Taf5l G A 8: 124,003,275 (GRCm38) P225L probably benign Het
Tet2 A T 3: 133,469,613 (GRCm38) N1324K possibly damaging Het
Usp5 A T 6: 124,823,451 (GRCm38) probably null Het
Vmn2r124 G T 17: 18,074,177 (GRCm38) R842L probably benign Het
Vps16 A G 2: 130,424,399 (GRCm38) D2G possibly damaging Het
Xpo1 A G 11: 23,285,058 (GRCm38) T576A probably damaging Het
Zdhhc6 A T 19: 55,313,248 (GRCm38) Y100* probably null Het
Zfp534 T A 4: 147,675,625 (GRCm38) R196* probably null Het
Zfp710 C T 7: 80,081,374 (GRCm38) R100W probably damaging Het
Zfp750 T C 11: 121,513,848 (GRCm38) K67R probably benign Het
Zmynd10 T C 9: 107,549,127 (GRCm38) S158P Het
Zmynd8 A T 2: 165,858,138 (GRCm38) M1K probably null Het
Other mutations in Vwf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Vwf APN 6 125,658,872 (GRCm38) missense unknown
IGL00561:Vwf APN 6 125,642,721 (GRCm38) missense possibly damaging 0.88
IGL01104:Vwf APN 6 125,683,556 (GRCm38) missense probably damaging 1.00
IGL01404:Vwf APN 6 125,677,970 (GRCm38) missense probably damaging 1.00
IGL01539:Vwf APN 6 125,590,262 (GRCm38) missense possibly damaging 0.85
IGL01550:Vwf APN 6 125,679,289 (GRCm38) missense probably benign 0.00
IGL01563:Vwf APN 6 125,591,165 (GRCm38) missense probably damaging 1.00
IGL01637:Vwf APN 6 125,645,736 (GRCm38) missense probably damaging 1.00
IGL01720:Vwf APN 6 125,642,835 (GRCm38) missense possibly damaging 0.69
IGL01834:Vwf APN 6 125,590,170 (GRCm38) splice site probably benign
IGL02103:Vwf APN 6 125,646,355 (GRCm38) missense probably damaging 1.00
IGL02120:Vwf APN 6 125,616,034 (GRCm38) missense probably benign 0.26
IGL02174:Vwf APN 6 125,555,395 (GRCm38) missense probably damaging 1.00
IGL02203:Vwf APN 6 125,642,406 (GRCm38) missense probably damaging 1.00
IGL02420:Vwf APN 6 125,677,916 (GRCm38) missense probably benign 0.00
IGL02723:Vwf APN 6 125,642,930 (GRCm38) missense possibly damaging 0.85
IGL02818:Vwf APN 6 125,663,548 (GRCm38) missense probably benign
IGL02931:Vwf APN 6 125,615,968 (GRCm38) missense possibly damaging 0.68
IGL03015:Vwf APN 6 125,684,138 (GRCm38) splice site probably benign
IGL03038:Vwf APN 6 125,604,157 (GRCm38) missense possibly damaging 0.92
IGL03060:Vwf APN 6 125,663,560 (GRCm38) missense probably damaging 1.00
IGL03114:Vwf APN 6 125,599,363 (GRCm38) nonsense probably null
IGL03266:Vwf APN 6 125,678,077 (GRCm38) splice site probably benign
gingerman UTSW 6 125,662,963 (GRCm38) critical splice acceptor site probably null
R0605_vwf_644 UTSW 6 125,685,837 (GRCm38) missense probably benign 0.02
R1575_Vwf_091 UTSW 6 125,663,571 (GRCm38) nonsense probably null
R1628_Vwf_608 UTSW 6 125,647,738 (GRCm38) unclassified probably benign
R1669_Vwf_448 UTSW 6 125,647,906 (GRCm38) missense possibly damaging 0.92
R1833_Vwf_948 UTSW 6 125,642,037 (GRCm38) missense probably benign 0.14
R2130_vwf_946 UTSW 6 125,657,057 (GRCm38) missense probably damaging 1.00
R6360_Vwf_065 UTSW 6 125,683,526 (GRCm38) missense probably benign 0.13
R7900_Vwf_938 UTSW 6 125,628,476 (GRCm38) critical splice donor site probably null
Russiahouse UTSW 6 125,639,341 (GRCm38) nonsense probably null
B5639:Vwf UTSW 6 125,642,984 (GRCm38) missense probably damaging 1.00
R0025:Vwf UTSW 6 125,682,812 (GRCm38) missense probably benign 0.05
R0025:Vwf UTSW 6 125,682,812 (GRCm38) missense probably benign 0.05
R0087:Vwf UTSW 6 125,645,954 (GRCm38) missense probably benign 0.03
R0194:Vwf UTSW 6 125,643,297 (GRCm38) missense probably benign
R0206:Vwf UTSW 6 125,637,456 (GRCm38) missense probably damaging 1.00
R0233:Vwf UTSW 6 125,686,510 (GRCm38) missense possibly damaging 0.91
R0233:Vwf UTSW 6 125,686,510 (GRCm38) missense possibly damaging 0.91
R0390:Vwf UTSW 6 125,626,361 (GRCm38) nonsense probably null
R0427:Vwf UTSW 6 125,673,939 (GRCm38) missense probably benign
R0437:Vwf UTSW 6 125,566,318 (GRCm38) missense probably damaging 1.00
R0470:Vwf UTSW 6 125,628,428 (GRCm38) missense possibly damaging 0.70
R0499:Vwf UTSW 6 125,638,114 (GRCm38) missense probably benign 0.10
R0554:Vwf UTSW 6 125,642,781 (GRCm38) missense probably benign 0.13
R0605:Vwf UTSW 6 125,685,837 (GRCm38) missense probably benign 0.02
R0711:Vwf UTSW 6 125,626,271 (GRCm38) missense probably benign 0.01
R0723:Vwf UTSW 6 125,566,262 (GRCm38) missense probably benign 0.01
R0973:Vwf UTSW 6 125,643,006 (GRCm38) missense probably damaging 1.00
R1054:Vwf UTSW 6 125,590,227 (GRCm38) missense probably damaging 1.00
R1115:Vwf UTSW 6 125,655,065 (GRCm38) missense unknown
R1156:Vwf UTSW 6 125,637,488 (GRCm38) missense probably damaging 1.00
R1191:Vwf UTSW 6 125,599,252 (GRCm38) missense probably damaging 1.00
R1240:Vwf UTSW 6 125,603,308 (GRCm38) splice site probably null
R1398:Vwf UTSW 6 125,603,457 (GRCm38) missense probably benign 0.02
R1435:Vwf UTSW 6 125,642,249 (GRCm38) nonsense probably null
R1528:Vwf UTSW 6 125,608,291 (GRCm38) missense possibly damaging 0.69
R1575:Vwf UTSW 6 125,663,571 (GRCm38) nonsense probably null
R1575:Vwf UTSW 6 125,655,251 (GRCm38) missense unknown
R1628:Vwf UTSW 6 125,647,738 (GRCm38) unclassified probably benign
R1669:Vwf UTSW 6 125,647,906 (GRCm38) missense possibly damaging 0.92
R1699:Vwf UTSW 6 125,685,900 (GRCm38) missense possibly damaging 0.74
R1699:Vwf UTSW 6 125,643,069 (GRCm38) missense probably damaging 1.00
R1725:Vwf UTSW 6 125,646,282 (GRCm38) missense probably benign 0.05
R1742:Vwf UTSW 6 125,667,550 (GRCm38) missense probably benign 0.02
R1809:Vwf UTSW 6 125,590,175 (GRCm38) splice site probably benign
R1833:Vwf UTSW 6 125,642,037 (GRCm38) missense probably benign 0.14
R1866:Vwf UTSW 6 125,667,529 (GRCm38) missense possibly damaging 0.62
R1870:Vwf UTSW 6 125,642,939 (GRCm38) missense probably damaging 1.00
R1874:Vwf UTSW 6 125,628,372 (GRCm38) missense probably benign 0.00
R1941:Vwf UTSW 6 125,639,279 (GRCm38) missense possibly damaging 0.64
R2061:Vwf UTSW 6 125,591,188 (GRCm38) missense probably damaging 0.98
R2103:Vwf UTSW 6 125,646,330 (GRCm38) missense probably benign 0.31
R2104:Vwf UTSW 6 125,646,330 (GRCm38) missense probably benign 0.31
R2130:Vwf UTSW 6 125,657,057 (GRCm38) missense probably damaging 1.00
R2159:Vwf UTSW 6 125,626,341 (GRCm38) missense probably damaging 0.99
R2178:Vwf UTSW 6 125,642,132 (GRCm38) missense possibly damaging 0.90
R2656:Vwf UTSW 6 125,555,361 (GRCm38) missense probably benign 0.00
R2913:Vwf UTSW 6 125,685,846 (GRCm38) missense probably benign 0.08
R2917:Vwf UTSW 6 125,608,143 (GRCm38) missense probably benign 0.07
R3726:Vwf UTSW 6 125,677,948 (GRCm38) utr 3 prime probably benign
R3735:Vwf UTSW 6 125,588,613 (GRCm38) missense probably damaging 1.00
R3774:Vwf UTSW 6 125,649,099 (GRCm38) splice site probably null
R3934:Vwf UTSW 6 125,555,499 (GRCm38) missense probably damaging 1.00
R4291:Vwf UTSW 6 125,642,322 (GRCm38) missense probably damaging 1.00
R4384:Vwf UTSW 6 125,655,116 (GRCm38) missense unknown
R4743:Vwf UTSW 6 125,684,091 (GRCm38) critical splice acceptor site probably null
R4760:Vwf UTSW 6 125,570,604 (GRCm38) missense probably damaging 1.00
R4776:Vwf UTSW 6 125,566,305 (GRCm38) missense possibly damaging 0.53
R4791:Vwf UTSW 6 125,643,363 (GRCm38) missense
R4871:Vwf UTSW 6 125,686,462 (GRCm38) missense probably benign 0.25
R4894:Vwf UTSW 6 125,645,934 (GRCm38) nonsense probably null
R4963:Vwf UTSW 6 125,667,483 (GRCm38) nonsense probably null
R5010:Vwf UTSW 6 125,566,257 (GRCm38) missense probably benign 0.15
R5289:Vwf UTSW 6 125,667,510 (GRCm38) utr 3 prime probably benign
R5512:Vwf UTSW 6 125,673,887 (GRCm38) utr 3 prime probably benign
R5523:Vwf UTSW 6 125,643,042 (GRCm38) missense
R5642:Vwf UTSW 6 125,603,418 (GRCm38) missense
R5860:Vwf UTSW 6 125,679,265 (GRCm38) utr 3 prime probably benign
R5860:Vwf UTSW 6 125,643,090 (GRCm38) missense
R5896:Vwf UTSW 6 125,678,762 (GRCm38) critical splice acceptor site probably null
R5926:Vwf UTSW 6 125,604,174 (GRCm38) missense probably damaging 1.00
R5976:Vwf UTSW 6 125,603,463 (GRCm38) missense
R6053:Vwf UTSW 6 125,600,665 (GRCm38) missense probably benign 0.21
R6151:Vwf UTSW 6 125,657,065 (GRCm38) missense unknown
R6179:Vwf UTSW 6 125,649,289 (GRCm38) missense unknown
R6181:Vwf UTSW 6 125,566,146 (GRCm38) missense probably damaging 0.98
R6234:Vwf UTSW 6 125,657,165 (GRCm38) missense unknown
R6360:Vwf UTSW 6 125,683,526 (GRCm38) missense probably benign 0.13
R6412:Vwf UTSW 6 125,679,316 (GRCm38) missense probably benign 0.00
R6464:Vwf UTSW 6 125,639,400 (GRCm38) critical splice donor site probably null
R6522:Vwf UTSW 6 125,662,963 (GRCm38) critical splice acceptor site probably null
R6766:Vwf UTSW 6 125,639,376 (GRCm38) missense unknown
R6856:Vwf UTSW 6 125,642,150 (GRCm38) nonsense probably null
R6877:Vwf UTSW 6 125,657,201 (GRCm38) missense possibly damaging 0.48
R6896:Vwf UTSW 6 125,566,194 (GRCm38) missense probably damaging 1.00
R7113:Vwf UTSW 6 125,655,044 (GRCm38) missense
R7287:Vwf UTSW 6 125,637,467 (GRCm38) missense
R7359:Vwf UTSW 6 125,566,257 (GRCm38) missense
R7509:Vwf UTSW 6 125,642,169 (GRCm38) missense
R7519:Vwf UTSW 6 125,667,543 (GRCm38) missense
R7545:Vwf UTSW 6 125,614,097 (GRCm38) missense
R7549:Vwf UTSW 6 125,626,267 (GRCm38) missense
R7593:Vwf UTSW 6 125,647,768 (GRCm38) missense
R7635:Vwf UTSW 6 125,682,734 (GRCm38) missense
R7793:Vwf UTSW 6 125,686,520 (GRCm38) missense
R7802:Vwf UTSW 6 125,666,677 (GRCm38) missense
R7824:Vwf UTSW 6 125,658,815 (GRCm38) missense
R7849:Vwf UTSW 6 125,656,803 (GRCm38) missense
R7900:Vwf UTSW 6 125,628,476 (GRCm38) critical splice donor site probably null
R7919:Vwf UTSW 6 125,647,859 (GRCm38) missense
R7966:Vwf UTSW 6 125,639,341 (GRCm38) nonsense probably null
R8101:Vwf UTSW 6 125,570,559 (GRCm38) nonsense probably null
R8162:Vwf UTSW 6 125,645,836 (GRCm38) splice site probably null
R8345:Vwf UTSW 6 125,679,302 (GRCm38) missense
R8853:Vwf UTSW 6 125,657,264 (GRCm38) missense
R9027:Vwf UTSW 6 125,666,663 (GRCm38) missense
R9065:Vwf UTSW 6 125,646,299 (GRCm38) missense
R9068:Vwf UTSW 6 125,648,829 (GRCm38) unclassified probably benign
R9136:Vwf UTSW 6 125,599,393 (GRCm38) splice site probably benign
R9164:Vwf UTSW 6 125,565,843 (GRCm38) missense
R9177:Vwf UTSW 6 125,604,291 (GRCm38) missense
R9334:Vwf UTSW 6 125,677,946 (GRCm38) missense
R9508:Vwf UTSW 6 125,555,508 (GRCm38) missense
R9553:Vwf UTSW 6 125,600,699 (GRCm38) missense
R9660:Vwf UTSW 6 125,591,707 (GRCm38) missense possibly damaging 0.61
R9706:Vwf UTSW 6 125,624,573 (GRCm38) missense
R9708:Vwf UTSW 6 125,657,090 (GRCm38) missense
R9712:Vwf UTSW 6 125,624,573 (GRCm38) missense
R9714:Vwf UTSW 6 125,624,573 (GRCm38) missense
R9728:Vwf UTSW 6 125,591,707 (GRCm38) missense possibly damaging 0.61
R9758:Vwf UTSW 6 125,626,267 (GRCm38) missense
X0021:Vwf UTSW 6 125,646,331 (GRCm38) missense probably damaging 1.00
X0065:Vwf UTSW 6 125,603,433 (GRCm38) missense probably null 0.05
Z1176:Vwf UTSW 6 125,603,308 (GRCm38) splice site probably null
Z1176:Vwf UTSW 6 125,591,231 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- GATGGCTAGGAATTTGGTCCGC -3'
(R):5'- GGATTACCTCCTCCACGAAC -3'

Sequencing Primer
(F):5'- TCCGCTATGTCCAAGGTCTGAAG -3'
(R):5'- ACGAACTCCTTGCTCTTATTGAAG -3'
Posted On 2022-01-20