Incidental Mutation 'IGL02653:Vwa3b'
ID 302244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa3b
Ensembl Gene ENSMUSG00000050122
Gene Name von Willebrand factor A domain containing 3B
Synonyms A230074B11Rik, 4921511C04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02653
Quality Score
Status
Chromosome 1
Chromosomal Location 37068372-37226689 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 37214646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000169057]
AlphaFold A0A571BE33
Predicted Effect probably benign
Transcript: ENSMUST00000027289
SMART Domains Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122

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 probably benign
Transcript: ENSMUST00000169057
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,765,191 (GRCm39) probably benign Het
Alox5 T A 6: 116,392,438 (GRCm39) H361L probably benign Het
Arid2 A G 15: 96,185,583 (GRCm39) N3S probably damaging Het
Atp1a4 T A 1: 172,078,973 (GRCm39) I182F possibly damaging Het
Cby2 T C 14: 75,820,597 (GRCm39) D385G probably damaging Het
Ctnna2 A T 6: 76,957,760 (GRCm39) D496E probably benign Het
Cyp3a25 G T 5: 145,939,920 (GRCm39) S29Y possibly damaging Het
Dglucy G A 12: 100,837,690 (GRCm39) G611D probably benign Het
Efcab5 T C 11: 77,022,848 (GRCm39) K622E probably damaging Het
Esyt1 T A 10: 128,346,877 (GRCm39) I1071L probably benign Het
Fbn2 T C 18: 58,209,777 (GRCm39) K1035E probably benign Het
Frem1 T G 4: 82,877,571 (GRCm39) E1335D probably benign Het
Gm5900 A G 7: 104,599,340 (GRCm39) noncoding transcript Het
Ikbke T A 1: 131,199,572 (GRCm39) Q283L possibly damaging Het
Lepr A T 4: 101,622,141 (GRCm39) I358F probably benign Het
Lnpk A G 2: 74,378,392 (GRCm39) V123A probably damaging Het
Mis12 A G 11: 70,916,357 (GRCm39) K130R probably damaging Het
Ncapg2 T A 12: 116,389,526 (GRCm39) probably null Het
Npy6r T C 18: 44,409,694 (GRCm39) *372Q probably null Het
Polr3d T C 14: 70,677,557 (GRCm39) D273G probably damaging Het
Ppp2r3d A G 9: 101,088,892 (GRCm39) V477A probably benign Het
Prpf19 T A 19: 10,880,328 (GRCm39) probably benign Het
Ptgr3 T C 18: 84,113,443 (GRCm39) V373A possibly damaging Het
Pwwp2a A G 11: 43,596,862 (GRCm39) T676A possibly damaging Het
Ralgapb T A 2: 158,285,229 (GRCm39) I242N probably damaging Het
Scn3a A T 2: 65,291,531 (GRCm39) S1738R probably damaging Het
Snapc1 C A 12: 74,029,261 (GRCm39) P348Q probably benign Het
Tbc1d7 T C 13: 43,318,874 (GRCm39) I88V probably benign Het
Tnks2 T C 19: 36,849,851 (GRCm39) S220P probably damaging Het
Trim56 A T 5: 137,141,760 (GRCm39) S585R probably damaging Het
Trpm2 T G 10: 77,748,503 (GRCm39) E1389A probably benign Het
Tspear T A 10: 77,542,799 (GRCm39) probably benign Het
Vmn1r180 T C 7: 23,652,500 (GRCm39) I221T probably damaging Het
Vmn1r204 A C 13: 22,740,800 (GRCm39) I144L probably benign Het
Vmn2r20 A T 6: 123,362,324 (GRCm39) I820N probably damaging Het
Wnt1 G A 15: 98,690,336 (GRCm39) G222R probably damaging 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
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
R0102:Vwa3b UTSW 1 37,174,595 (GRCm39) missense probably damaging 1.00
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 2015-04-16