Incidental Mutation 'R9366:Vwa5b1'
ID 708960
Institutional Source Beutler Lab
Gene Symbol Vwa5b1
Ensembl Gene ENSMUSG00000028753
Gene Name von Willebrand factor A domain containing 5B1
Synonyms 4931403E03Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 138292671-138363195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138318229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 546 (I546N)
Ref Sequence ENSEMBL: ENSMUSP00000030533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030533] [ENSMUST00000105812]
AlphaFold A9Z1V5
Predicted Effect probably damaging
Transcript: ENSMUST00000030533
AA Change: I546N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: I546N

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 2e-28 PFAM
Pfam:VIT 15 138 1.5e-7 PFAM
VWA 351 513 6.04e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105812
SMART Domains Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753

DomainStartEndE-ValueType
Pfam:VIT_2 16 93 1.9e-30 PFAM
Pfam:VIT 29 103 2.1e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C T 8: 71,914,328 (GRCm39) R100Q probably benign Het
Acp5 C T 9: 22,039,224 (GRCm39) C163Y probably damaging Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Atp2b4 C A 1: 133,642,920 (GRCm39) G1062C probably damaging Het
Bicral A T 17: 47,117,558 (GRCm39) M788K possibly damaging Het
C1s2 C A 6: 124,602,694 (GRCm39) A506S probably benign Het
Capn9 C G 8: 125,332,280 (GRCm39) T417S probably benign Het
Cd109 T G 9: 78,622,275 (GRCm39) S1422A probably benign Het
Cd207 G T 6: 83,648,779 (GRCm39) N294K probably damaging Het
Cdc42bpa A G 1: 179,921,675 (GRCm39) E605G probably damaging Het
Cdhr1 C A 14: 36,811,463 (GRCm39) G216V possibly damaging Het
Ckap2 A T 8: 22,658,988 (GRCm39) M585K possibly damaging Het
Clp1 G T 2: 84,556,473 (GRCm39) S2R probably benign Het
Cngb3 G T 4: 19,395,983 (GRCm39) V342F probably benign Het
Col18a1 T C 10: 76,932,258 (GRCm39) D65G unknown Het
Col3a1 C T 1: 45,380,391 (GRCm39) P972S unknown Het
Cxcr5 C T 9: 44,424,730 (GRCm39) C309Y possibly damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcc A T 18: 71,708,281 (GRCm39) N478K probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Emsy A T 7: 98,290,860 (GRCm39) N101K probably benign Het
Epb41l5 A G 1: 119,548,448 (GRCm39) Y137H probably damaging Het
Etfdh C T 3: 79,519,271 (GRCm39) G354D probably benign Het
Fa2h A T 8: 112,076,006 (GRCm39) Y206N probably benign Het
Gabrr2 T C 4: 33,085,771 (GRCm39) V217A Het
Gimap4 A G 6: 48,668,037 (GRCm39) K264R probably benign Het
Gpr31b C A 17: 13,270,375 (GRCm39) D265Y probably damaging Het
Irx4 A G 13: 73,417,025 (GRCm39) T474A probably benign Het
Kif21a T C 15: 90,843,951 (GRCm39) E1096G probably damaging Het
Letm2 A T 8: 26,084,165 (GRCm39) V22E probably damaging Het
Lrrc45 A G 11: 120,611,552 (GRCm39) E642G probably damaging Het
Mark1 A T 1: 184,653,792 (GRCm39) V170E probably damaging Het
Mbd6 G A 10: 127,122,304 (GRCm39) Q175* probably null Het
Mrc1 T A 2: 14,321,709 (GRCm39) D1067E probably damaging Het
Muc5b A G 7: 141,417,041 (GRCm39) H3329R probably benign Het
Myh1 A T 11: 67,110,114 (GRCm39) D1434V probably damaging Het
Myo5a T A 9: 75,124,800 (GRCm39) L1785Q probably damaging Het
Myrfl A G 10: 116,670,358 (GRCm39) I295T possibly damaging Het
Nav3 C A 10: 109,659,364 (GRCm39) R751L probably damaging Het
Neb T C 2: 52,172,699 (GRCm39) K1536R probably benign Het
Nynrin T G 14: 56,100,587 (GRCm39) S126A probably damaging Het
Or13p3 A T 4: 118,566,831 (GRCm39) T76S probably damaging Het
Or5m8 A G 2: 85,822,731 (GRCm39) D190G possibly damaging Het
Or6c69c A T 10: 129,911,067 (GRCm39) K263* probably null Het
Parp14 A C 16: 35,659,630 (GRCm39) probably null Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pin1 C A 9: 20,566,841 (GRCm39) T81N probably damaging Het
Pkhd1l1 T C 15: 44,410,308 (GRCm39) I2605T probably benign Het
Plcb3 A G 19: 6,937,658 (GRCm39) probably null Het
Proser3 G A 7: 30,248,478 (GRCm39) S72L probably damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Pwp1 T A 10: 85,717,870 (GRCm39) N269K probably damaging Het
Qsox1 A G 1: 155,665,162 (GRCm39) S260P probably benign Het
Ric3 A G 7: 108,653,644 (GRCm39) L149P probably damaging Het
Rif1 A G 2: 52,010,356 (GRCm39) T707A Het
Rnf213 A C 11: 119,327,057 (GRCm39) R1682S Het
Rpgrip1l G T 8: 91,996,809 (GRCm39) Y690* probably null Het
Slc29a2 A G 19: 5,074,609 (GRCm39) T34A probably damaging Het
Slc6a1 A G 6: 114,280,974 (GRCm39) N176S possibly damaging Het
Slco1b2 T A 6: 141,602,552 (GRCm39) Y168* probably null Het
Snca C A 6: 60,792,675 (GRCm39) A78S probably benign Het
Snrnp200 T A 2: 127,058,010 (GRCm39) D257E probably benign Het
Srebf2 T C 15: 82,083,837 (GRCm39) V959A probably benign Het
Stk3 A C 15: 35,072,634 (GRCm39) I209S probably damaging Het
Thsd7a A T 6: 12,555,480 (GRCm39) C135S Het
Tlnrd1 G T 7: 83,531,582 (GRCm39) A283E probably benign Het
Tomm70a A T 16: 56,970,259 (GRCm39) K546* probably null Het
Trak1 C T 9: 121,301,578 (GRCm39) T778I probably damaging Het
Trappc9 T C 15: 72,808,937 (GRCm39) I709V probably benign Het
Trgc3 A G 13: 19,446,825 (GRCm39) T115A probably benign Het
Trp53rkb T C 2: 166,637,700 (GRCm39) S219P possibly damaging Het
Ubqlnl G C 7: 103,798,592 (GRCm39) L302V possibly damaging Het
Uqcc1 C A 2: 155,771,995 (GRCm39) probably benign Het
Vps13a G A 19: 16,672,894 (GRCm39) R1293W probably damaging Het
Vps9d1 G T 8: 123,974,486 (GRCm39) S267* probably null Het
Zbtb8b A T 4: 129,326,151 (GRCm39) M338K probably benign Het
Zfp652 C T 11: 95,643,833 (GRCm39) R344* probably null Het
Other mutations in Vwa5b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Vwa5b1 APN 4 138,308,528 (GRCm39) missense probably benign 0.08
IGL02133:Vwa5b1 APN 4 138,313,868 (GRCm39) critical splice donor site probably null
IGL02379:Vwa5b1 APN 4 138,340,170 (GRCm39) missense probably damaging 1.00
IGL02671:Vwa5b1 APN 4 138,296,437 (GRCm39) nonsense probably null
IGL02864:Vwa5b1 APN 4 138,336,286 (GRCm39) missense probably benign 0.00
IGL03076:Vwa5b1 APN 4 138,327,499 (GRCm39) missense probably damaging 1.00
IGL03115:Vwa5b1 APN 4 138,327,460 (GRCm39) missense possibly damaging 0.93
IGL03119:Vwa5b1 APN 4 138,333,852 (GRCm39) missense probably benign 0.01
PIT4283001:Vwa5b1 UTSW 4 138,327,574 (GRCm39) missense probably damaging 1.00
R0114:Vwa5b1 UTSW 4 138,336,169 (GRCm39) nonsense probably null
R0157:Vwa5b1 UTSW 4 138,332,190 (GRCm39) missense probably benign 0.00
R0528:Vwa5b1 UTSW 4 138,321,662 (GRCm39) missense probably damaging 1.00
R0562:Vwa5b1 UTSW 4 138,363,022 (GRCm39) splice site probably benign
R0718:Vwa5b1 UTSW 4 138,336,135 (GRCm39) missense probably damaging 1.00
R1555:Vwa5b1 UTSW 4 138,332,788 (GRCm39) missense probably benign 0.02
R1573:Vwa5b1 UTSW 4 138,332,184 (GRCm39) missense probably damaging 1.00
R1857:Vwa5b1 UTSW 4 138,296,413 (GRCm39) missense probably damaging 1.00
R1883:Vwa5b1 UTSW 4 138,302,700 (GRCm39) missense probably damaging 0.96
R1906:Vwa5b1 UTSW 4 138,327,547 (GRCm39) missense possibly damaging 0.93
R1913:Vwa5b1 UTSW 4 138,319,331 (GRCm39) nonsense probably null
R2121:Vwa5b1 UTSW 4 138,315,880 (GRCm39) missense probably benign 0.00
R2213:Vwa5b1 UTSW 4 138,332,123 (GRCm39) missense probably benign 0.00
R2355:Vwa5b1 UTSW 4 138,319,221 (GRCm39) critical splice donor site probably null
R2655:Vwa5b1 UTSW 4 138,321,614 (GRCm39) missense probably damaging 1.00
R4134:Vwa5b1 UTSW 4 138,321,641 (GRCm39) missense possibly damaging 0.69
R4135:Vwa5b1 UTSW 4 138,321,641 (GRCm39) missense possibly damaging 0.69
R4635:Vwa5b1 UTSW 4 138,338,150 (GRCm39) missense possibly damaging 0.82
R4773:Vwa5b1 UTSW 4 138,309,066 (GRCm39) missense probably benign 0.01
R4832:Vwa5b1 UTSW 4 138,332,851 (GRCm39) missense probably damaging 1.00
R4906:Vwa5b1 UTSW 4 138,338,058 (GRCm39) missense probably benign 0.03
R4916:Vwa5b1 UTSW 4 138,321,573 (GRCm39) missense possibly damaging 0.81
R4995:Vwa5b1 UTSW 4 138,336,154 (GRCm39) missense probably damaging 1.00
R5573:Vwa5b1 UTSW 4 138,336,201 (GRCm39) missense probably damaging 1.00
R5872:Vwa5b1 UTSW 4 138,305,962 (GRCm39) missense possibly damaging 0.63
R6255:Vwa5b1 UTSW 4 138,305,983 (GRCm39) missense probably benign 0.00
R6811:Vwa5b1 UTSW 4 138,319,414 (GRCm39) missense probably benign 0.00
R6901:Vwa5b1 UTSW 4 138,313,880 (GRCm39) missense probably benign
R7144:Vwa5b1 UTSW 4 138,332,742 (GRCm39) critical splice donor site probably null
R7146:Vwa5b1 UTSW 4 138,308,923 (GRCm39) missense probably benign 0.00
R7159:Vwa5b1 UTSW 4 138,302,733 (GRCm39) missense possibly damaging 0.56
R7362:Vwa5b1 UTSW 4 138,321,623 (GRCm39) missense probably damaging 1.00
R7690:Vwa5b1 UTSW 4 138,318,244 (GRCm39) missense probably damaging 0.98
R7908:Vwa5b1 UTSW 4 138,296,481 (GRCm39) nonsense probably null
R7965:Vwa5b1 UTSW 4 138,332,800 (GRCm39) missense probably damaging 1.00
R8865:Vwa5b1 UTSW 4 138,308,530 (GRCm39) missense probably benign 0.02
R8866:Vwa5b1 UTSW 4 138,327,628 (GRCm39) missense probably damaging 1.00
R8872:Vwa5b1 UTSW 4 138,305,956 (GRCm39) missense probably damaging 1.00
R8889:Vwa5b1 UTSW 4 138,338,041 (GRCm39) missense probably benign 0.01
R9045:Vwa5b1 UTSW 4 138,315,990 (GRCm39) missense probably damaging 1.00
R9089:Vwa5b1 UTSW 4 138,296,742 (GRCm39) missense probably benign 0.08
R9273:Vwa5b1 UTSW 4 138,316,005 (GRCm39) missense probably damaging 1.00
R9450:Vwa5b1 UTSW 4 138,315,940 (GRCm39) missense possibly damaging 0.89
R9646:Vwa5b1 UTSW 4 138,319,420 (GRCm39) missense probably damaging 0.97
Z1177:Vwa5b1 UTSW 4 138,340,149 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACGCTTCCTAAAGAGGGACTG -3'
(R):5'- GGTGTCTACTGCTGGATCAG -3'

Sequencing Primer
(F):5'- CTTCCTAAAGAGGGACTGAAAGG -3'
(R):5'- TACCCCAAGCCTGCTGTG -3'
Posted On 2022-04-18