Incidental Mutation 'R0157:Vwa5b1'
ID 22903
Institutional Source Beutler Lab
Gene Symbol Vwa5b1
Ensembl Gene ENSMUSG00000028753
Gene Name von Willebrand factor A domain containing 5B1
Synonyms 4931403E03Rik
MMRRC Submission 038437-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0157 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 138292671-138363195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138332190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 276 (M276L)
Ref Sequence ENSEMBL: ENSMUSP00000030533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030533] [ENSMUST00000105812]
AlphaFold A9Z1V5
Predicted Effect probably benign
Transcript: ENSMUST00000030533
AA Change: M276L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: M276L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154312
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.5%
Validation Efficiency 64% (47/73)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T A 11: 80,056,527 (GRCm39) I180N probably damaging Het
Alk T A 17: 72,256,840 (GRCm39) N673I probably benign Het
Ankrd7 T C 6: 18,866,539 (GRCm39) S20P probably damaging Het
Arhgef26 T G 3: 62,288,392 (GRCm39) D487E probably damaging Het
Arhgef4 A G 1: 34,845,475 (GRCm39) D1500G probably damaging Het
Arhgef7 A G 8: 11,835,812 (GRCm39) I39V probably damaging Het
Asap2 T A 12: 21,256,326 (GRCm39) I208N probably damaging Het
Atad5 T C 11: 79,980,643 (GRCm39) V16A possibly damaging Het
Atp2b1 T C 10: 98,835,809 (GRCm39) I518T probably damaging Het
B130006D01Rik T C 11: 95,617,211 (GRCm39) probably benign Het
BC028528 A G 3: 95,792,280 (GRCm39) probably null Het
Bpifb6 T A 2: 153,745,886 (GRCm39) L74Q probably benign Het
Bptf T C 11: 106,965,484 (GRCm39) T1122A possibly damaging Het
Cacna2d4 T A 6: 119,289,385 (GRCm39) D806E probably benign Het
Cdhr3 T C 12: 33,111,649 (GRCm39) Q287R possibly damaging Het
Cdk12 A G 11: 98,140,602 (GRCm39) probably benign Het
Cenpf T A 1: 189,384,556 (GRCm39) T2575S probably benign Het
Chd7 T A 4: 8,833,759 (GRCm39) I1171N probably damaging Het
Chd9 T C 8: 91,735,464 (GRCm39) probably null Het
Ckmt1 A G 2: 121,193,522 (GRCm39) T361A possibly damaging Het
Clec4d G T 6: 123,244,095 (GRCm39) R68L probably benign Het
Csmd2 G T 4: 128,415,704 (GRCm39) V2678F probably benign Het
Cul7 T A 17: 46,964,761 (GRCm39) V131E possibly damaging Het
Dab2 T C 15: 6,459,308 (GRCm39) S407P probably benign Het
Dnah17 C T 11: 118,017,997 (GRCm39) G166D probably benign Het
F13b G A 1: 139,431,585 (GRCm39) V52I probably benign Het
Gjd4 T C 18: 9,280,549 (GRCm39) I176M probably benign Het
Hoxc11 A G 15: 102,863,436 (GRCm39) Y159C probably damaging Het
Hydin T C 8: 111,026,642 (GRCm39) I120T possibly damaging Het
Il20rb A G 9: 100,355,132 (GRCm39) Y104H probably damaging Het
Krtap21-1 A G 16: 89,200,430 (GRCm39) C71R unknown Het
Lamc1 T C 1: 153,138,353 (GRCm39) D167G probably benign Het
Lin7c C A 2: 109,725,514 (GRCm39) A73E probably damaging Het
Meiosin T C 7: 18,840,945 (GRCm39) H63R possibly damaging Het
Mms22l C A 4: 24,588,224 (GRCm39) A952E probably damaging Het
Myh3 A G 11: 66,973,735 (GRCm39) N136S probably benign Het
Ndufb10 T C 17: 24,943,218 (GRCm39) T31A probably benign Het
Nlrp2 T C 7: 5,311,769 (GRCm39) Y37C possibly damaging Het
Or2t44 T C 11: 58,677,885 (GRCm39) F275S probably damaging Het
Or2y14 T C 11: 49,404,600 (GRCm39) I45T probably damaging Het
Orc3 C A 4: 34,607,130 (GRCm39) probably null Het
Pard3b A C 1: 62,250,792 (GRCm39) M512L probably damaging Het
Pcdh10 A G 3: 45,334,136 (GRCm39) D150G probably damaging Het
Pcolce A T 5: 137,608,741 (GRCm39) probably null Het
Pdcl A C 2: 37,242,189 (GRCm39) I187S probably damaging Het
Pkn1 T C 8: 84,419,449 (GRCm39) I51M probably damaging Het
Pla2g4e T A 2: 120,000,662 (GRCm39) T692S probably benign Het
Plcb2 C A 2: 118,549,022 (GRCm39) V380F probably damaging Het
Pmpcb A T 5: 21,947,950 (GRCm39) I218F probably damaging Het
Pms1 A T 1: 53,234,196 (GRCm39) Y773* probably null Het
Polr2e C T 10: 79,872,615 (GRCm39) G184R probably damaging Het
Polr3a T C 14: 24,529,254 (GRCm39) I369V probably damaging Het
Pramel21 C T 4: 143,342,366 (GRCm39) P158S probably damaging Het
Prpf4b T C 13: 35,068,014 (GRCm39) probably benign Het
Pzp G A 6: 128,500,939 (GRCm39) Q140* probably null Het
Qrich2 T A 11: 116,332,221 (GRCm39) E2325V probably damaging Het
R3hdm2 T G 10: 127,307,858 (GRCm39) L373R probably damaging Het
Sema3d A T 5: 12,558,104 (GRCm39) D212V possibly damaging Het
Sidt2 A G 9: 45,850,565 (GRCm39) I850T probably damaging Het
Slc22a29 C T 19: 8,140,106 (GRCm39) R433H possibly damaging Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sox21 G A 14: 118,473,354 (GRCm39) probably benign Het
Steap3 A G 1: 120,155,379 (GRCm39) *527R probably null Het
Svep1 T C 4: 58,069,830 (GRCm39) E2652G possibly damaging Het
Taar2 T A 10: 23,817,389 (GRCm39) F310I probably damaging Het
Tasor2 C A 13: 3,625,550 (GRCm39) V1467L probably benign Het
Tecta A G 9: 42,286,307 (GRCm39) V783A probably benign Het
Vmn1r173 T A 7: 23,401,822 (GRCm39) I19N probably damaging Het
Yeats2 A C 16: 20,040,427 (GRCm39) *142C probably null Het
Zfp26 G T 9: 20,349,166 (GRCm39) T466K probably benign Het
Zfp426 T C 9: 20,382,432 (GRCm39) N171S probably benign 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
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
R9366:Vwa5b1 UTSW 4 138,318,229 (GRCm39) missense probably damaging 0.97
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'- TGAGACTAAGTTCCCGTTGCCACC -3'
(R):5'- AAGATTCCTCAGGCATTTGGCTCAG -3'

Sequencing Primer
(F):5'- TCCCTTCAAGTGCTGGTCAT -3'
(R):5'- CCTGTGCAAAGATGGTGGC -3'
Posted On 2013-04-16