Incidental Mutation 'R0102:Vwa3b'
ID 17365
Institutional Source Beutler Lab
Gene Symbol Vwa3b
Ensembl Gene ENSMUSG00000050122
Gene Name von Willebrand factor A domain containing 3B
Synonyms A230074B11Rik, 4921511C04Rik
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 37068372-37226689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37174595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 670 (E670A)
Ref Sequence ENSEMBL: ENSMUSP00000027289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027289]
AlphaFold A0A571BE33
Predicted Effect probably damaging
Transcript: ENSMUST00000027289
AA Change: E670A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: E670A

DomainStartEndE-ValueType
Pfam:DUF4537 159 285 9.1e-36 PFAM
low complexity region 327 336 N/A INTRINSIC
low complexity region 345 364 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195303
Predicted Effect unknown
Transcript: ENSMUST00000195450
AA Change: E2A
Meta Mutation Damage Score 0.2132 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
Allele List at MGI

All alleles(71) : Targeted(3) Gene trapped(68)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mat1a T A 14: 40,842,187 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Pde4b T A 4: 102,447,375 (GRCm39) S9T probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pitpnm3 C T 11: 71,947,072 (GRCm39) V776M probably damaging Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Other mutations in Vwa3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Vwa3b APN 1 37,193,117 (GRCm39) missense probably benign 0.28
IGL02236:Vwa3b APN 1 37,193,132 (GRCm39) splice site probably benign
IGL02653:Vwa3b APN 1 37,214,646 (GRCm39) utr 3 prime probably benign
IGL02823:Vwa3b APN 1 37,225,985 (GRCm39) utr 3 prime probably benign
IGL03030:Vwa3b APN 1 37,084,049 (GRCm39) missense probably damaging 1.00
P0014:Vwa3b UTSW 1 37,212,995 (GRCm39) utr 3 prime probably benign
R0035:Vwa3b UTSW 1 37,204,770 (GRCm39) missense possibly damaging 0.69
R0556:Vwa3b UTSW 1 37,203,566 (GRCm39) splice site probably benign
R1061:Vwa3b UTSW 1 37,196,511 (GRCm39) missense probably damaging 1.00
R1386:Vwa3b UTSW 1 37,090,962 (GRCm39) critical splice donor site probably null
R2441:Vwa3b UTSW 1 37,182,150 (GRCm39) unclassified probably benign
R3117:Vwa3b UTSW 1 37,148,158 (GRCm39) missense possibly damaging 0.95
R3119:Vwa3b UTSW 1 37,148,158 (GRCm39) missense possibly damaging 0.95
R4081:Vwa3b UTSW 1 37,074,905 (GRCm39) missense probably damaging 0.99
R4393:Vwa3b UTSW 1 37,084,259 (GRCm39) missense probably damaging 1.00
R4897:Vwa3b UTSW 1 37,153,684 (GRCm39) splice site probably benign
R4950:Vwa3b UTSW 1 37,124,413 (GRCm39) missense probably benign 0.00
R4978:Vwa3b UTSW 1 37,154,752 (GRCm39) missense probably damaging 0.99
R5141:Vwa3b UTSW 1 37,226,102 (GRCm39) utr 3 prime probably benign
R5286:Vwa3b UTSW 1 37,084,120 (GRCm39) missense probably damaging 1.00
R5356:Vwa3b UTSW 1 37,153,664 (GRCm39) missense probably damaging 0.99
R5426:Vwa3b UTSW 1 37,154,752 (GRCm39) missense probably damaging 0.99
R5480:Vwa3b UTSW 1 37,139,787 (GRCm39) nonsense probably null
R5727:Vwa3b UTSW 1 37,174,600 (GRCm39) missense probably benign 0.10
R5876:Vwa3b UTSW 1 37,115,520 (GRCm39) missense probably damaging 0.97
R6191:Vwa3b UTSW 1 37,153,612 (GRCm39) missense possibly damaging 0.92
R6219:Vwa3b UTSW 1 37,139,779 (GRCm39) missense possibly damaging 0.92
R6250:Vwa3b UTSW 1 37,090,966 (GRCm39) splice site probably null
R6281:Vwa3b UTSW 1 37,163,063 (GRCm39) missense probably damaging 1.00
R6419:Vwa3b UTSW 1 37,196,457 (GRCm39) missense probably benign 0.01
R6467:Vwa3b UTSW 1 37,124,367 (GRCm39) missense probably benign 0.01
R6512:Vwa3b UTSW 1 37,102,723 (GRCm39) intron probably benign
R6541:Vwa3b UTSW 1 37,090,842 (GRCm39) missense probably damaging 1.00
R6724:Vwa3b UTSW 1 37,084,112 (GRCm39) missense probably damaging 1.00
R6728:Vwa3b UTSW 1 37,196,453 (GRCm39) missense probably damaging 1.00
R7046:Vwa3b UTSW 1 37,212,959 (GRCm39) missense probably benign
R7117:Vwa3b UTSW 1 37,174,634 (GRCm39) missense
R7304:Vwa3b UTSW 1 37,203,586 (GRCm39) missense probably damaging 1.00
R7402:Vwa3b UTSW 1 37,153,678 (GRCm39) nonsense probably null
R7762:Vwa3b UTSW 1 37,163,126 (GRCm39) missense probably damaging 1.00
R7911:Vwa3b UTSW 1 37,193,107 (GRCm39) missense probably damaging 1.00
R8213:Vwa3b UTSW 1 37,168,020 (GRCm39) missense probably benign 0.07
R8402:Vwa3b UTSW 1 37,204,879 (GRCm39) missense probably damaging 1.00
R8697:Vwa3b UTSW 1 37,115,461 (GRCm39) missense probably benign 0.09
R8758:Vwa3b UTSW 1 37,176,873 (GRCm39) missense
R8874:Vwa3b UTSW 1 37,074,839 (GRCm39) missense possibly damaging 0.73
R9011:Vwa3b UTSW 1 37,154,767 (GRCm39) missense probably damaging 1.00
R9012:Vwa3b UTSW 1 37,124,391 (GRCm39) missense probably benign 0.15
R9015:Vwa3b UTSW 1 37,203,597 (GRCm39) missense possibly damaging 0.71
R9102:Vwa3b UTSW 1 37,174,593 (GRCm39) start codon destroyed probably null
R9263:Vwa3b UTSW 1 37,099,493 (GRCm39) missense probably benign 0.43
R9277:Vwa3b UTSW 1 37,196,534 (GRCm39) critical splice donor site probably null
R9294:Vwa3b UTSW 1 37,074,882 (GRCm39) missense probably damaging 0.99
R9341:Vwa3b UTSW 1 37,153,615 (GRCm39) missense probably damaging 1.00
R9343:Vwa3b UTSW 1 37,153,615 (GRCm39) missense probably damaging 1.00
R9502:Vwa3b UTSW 1 37,099,520 (GRCm39) missense probably damaging 0.99
R9758:Vwa3b UTSW 1 37,081,438 (GRCm39) missense probably benign 0.00
Posted On 2013-01-20