Incidental Mutation 'IGL02823:Vwa3b'
ID 361084
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 # IGL02823
Quality Score
Status
Chromosome 1
Chromosomal Location 37068372-37226689 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 37225985 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194320
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,410,074 (GRCm39) S194P probably damaging Het
Abca7 T A 10: 79,844,656 (GRCm39) D1488E probably damaging Het
Abhd18 A G 3: 40,887,953 (GRCm39) probably benign Het
Atp6ap1l A G 13: 91,047,644 (GRCm39) V56A probably benign Het
Atrip A G 9: 108,890,246 (GRCm39) Y631H probably damaging Het
C9orf72 A T 4: 35,213,031 (GRCm39) C215S probably damaging Het
Dst A T 1: 34,231,164 (GRCm39) H3097L possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eif2a G T 3: 58,456,092 (GRCm39) A364S probably benign Het
Eps8l2 A T 7: 140,921,988 (GRCm39) D22V probably damaging Het
Fndc7 A G 3: 108,776,487 (GRCm39) F432S probably damaging Het
Gemin5 T C 11: 58,058,531 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,125,046 (GRCm39) K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 (GRCm39) I713T possibly damaging Het
Hs3st1 A G 5: 39,772,100 (GRCm39) L181P probably damaging Het
Ksr1 C A 11: 78,912,229 (GRCm39) V627L probably benign Het
Lama2 T C 10: 26,877,141 (GRCm39) N2682D probably damaging Het
Lratd2 T C 15: 60,694,972 (GRCm39) D258G probably damaging Het
Map3k19 G T 1: 127,750,001 (GRCm39) H1117N probably benign Het
Mdc1 C T 17: 36,163,815 (GRCm39) A1121V probably damaging Het
Nlrp1a C T 11: 70,983,249 (GRCm39) S1239N probably damaging Het
Or2w3 T C 11: 58,556,793 (GRCm39) M136T possibly damaging Het
Prkra G T 2: 76,460,768 (GRCm39) A310E probably damaging Het
Prl2c1 T C 13: 28,040,416 (GRCm39) probably benign Het
Prl7a2 T C 13: 27,846,734 (GRCm39) Y93C possibly damaging Het
Prob1 A T 18: 35,785,800 (GRCm39) V818E possibly damaging Het
Rbbp8 A G 18: 11,865,270 (GRCm39) S720G possibly damaging Het
Rexo4 T C 2: 26,852,489 (GRCm39) T149A probably benign Het
Slc39a2 T A 14: 52,132,869 (GRCm39) Y271N probably damaging Het
Sprr2d T A 3: 92,247,734 (GRCm39) C58* probably null Het
Srebf2 G A 15: 82,083,975 (GRCm39) G965D possibly damaging Het
Tcof1 T C 18: 60,949,120 (GRCm39) E1265G probably benign Het
Terf2 T C 8: 107,799,257 (GRCm39) N389S possibly damaging Het
Vsig10l T C 7: 43,115,888 (GRCm39) S410P 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
IGL02653:Vwa3b APN 1 37,214,646 (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 2015-12-18