Incidental Mutation 'R7159:Vwa5b1'
ID 557491
Institutional Source Beutler Lab
Gene Symbol Vwa5b1
Ensembl Gene ENSMUSG00000028753
Gene Name von Willebrand factor A domain containing 5B1
Synonyms 4931403E03Rik
MMRRC Submission 045259-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7159 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 138292671-138363195 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138302733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 921 (A921T)
Ref Sequence ENSEMBL: ENSMUSP00000030533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030533]
AlphaFold A9Z1V5
Predicted Effect possibly damaging
Transcript: ENSMUST00000030533
AA Change: A921T

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: A921T

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: ENSMUST00000137206
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,380,327 (GRCm39) V500E possibly damaging Het
Ankrd34b T C 13: 92,575,970 (GRCm39) S401P probably benign Het
Arfgef2 T A 2: 166,668,848 (GRCm39) D41E probably benign Het
Arid1a T C 4: 133,480,879 (GRCm39) N15S unknown Het
Arsa A T 15: 89,358,921 (GRCm39) probably null Het
B3gnt9 C A 8: 105,981,064 (GRCm39) C108F probably damaging Het
Bbc3 C A 7: 16,047,733 (GRCm39) Y152* probably null Het
Btbd1 T C 7: 81,467,957 (GRCm39) M188V probably benign Het
Caln1 C T 5: 130,851,838 (GRCm39) T209I probably benign Het
Casp12 C T 9: 5,353,763 (GRCm39) P266S possibly damaging Het
Ccm2l A T 2: 152,912,787 (GRCm39) I109F probably damaging Het
Chst15 A C 7: 131,871,987 (GRCm39) L98R probably damaging Het
Ctsq A G 13: 61,186,737 (GRCm39) M89T probably benign Het
Ddx39b T C 17: 35,465,986 (GRCm39) V169A probably benign Het
Fhad1 T C 4: 141,678,927 (GRCm39) H583R probably benign Het
Fndc1 T A 17: 8,019,763 (GRCm39) I139F probably damaging Het
Gm7145 C G 1: 117,913,561 (GRCm39) H148D probably benign Het
Gpr62 C A 9: 106,342,641 (GRCm39) A96S probably damaging Het
Gsap T A 5: 21,475,618 (GRCm39) probably null Het
Hdhd5 T A 6: 120,500,432 (GRCm39) T89S probably damaging Het
Kcna5 T A 6: 126,510,592 (GRCm39) Y512F probably damaging Het
Krt84 C A 15: 101,438,044 (GRCm39) E304* probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrp6 C A 6: 134,484,514 (GRCm39) V370L probably benign Het
Lrrc3c G A 11: 98,490,144 (GRCm39) G167D probably damaging Het
Man2b1 C T 8: 85,813,909 (GRCm39) T291M probably benign Het
Mapkbp1 A G 2: 119,855,613 (GRCm39) E1438G possibly damaging Het
Med12l A G 3: 59,183,438 (GRCm39) T1947A probably benign Het
Myh15 A T 16: 48,881,937 (GRCm39) T60S probably damaging Het
Myo5a A T 9: 75,078,845 (GRCm39) I868F probably benign Het
Myom3 A T 4: 135,536,162 (GRCm39) I1278F probably damaging Het
Nbn G T 4: 15,983,677 (GRCm39) probably null Het
Ncam2 G T 16: 81,287,262 (GRCm39) S392I probably damaging Het
Nrg3 A C 14: 38,092,692 (GRCm39) L647* probably null Het
Or10j7 A T 1: 173,011,890 (GRCm39) L37Q possibly damaging Het
Or2t35 T C 14: 14,407,251 (GRCm38) S8P possibly damaging Het
Or2y1g A T 11: 49,171,185 (GRCm39) D70V probably damaging Het
Or8j3c T A 2: 86,253,956 (GRCm39) probably null Het
Pcdhb9 A G 18: 37,534,545 (GRCm39) N180D possibly damaging Het
Pcdhga4 A G 18: 37,819,972 (GRCm39) N507S probably damaging Het
Pdilt A G 7: 119,087,174 (GRCm39) V492A probably benign Het
Phf12 A G 11: 77,914,366 (GRCm39) T603A possibly damaging Het
Phox2b T A 5: 67,254,928 (GRCm39) I174F probably benign Het
Polq A T 16: 36,883,215 (GRCm39) Q1793L possibly damaging Het
Prmt9 T C 8: 78,282,393 (GRCm39) F97L probably benign Het
Prpsap1 T C 11: 116,384,870 (GRCm39) E13G probably benign Het
Ptpru A G 4: 131,546,851 (GRCm39) L280P probably damaging Het
Pygl A T 12: 70,244,180 (GRCm39) M587K probably benign Het
Rc3h2 T C 2: 37,299,659 (GRCm39) S124G probably benign Het
Rdh5 A G 10: 128,754,184 (GRCm39) I83T possibly damaging Het
Rigi A G 4: 40,213,804 (GRCm39) V618A probably benign Het
Ryr2 T G 13: 11,825,794 (GRCm39) R561S probably damaging Het
Scara3 A G 14: 66,158,229 (GRCm39) L593P probably damaging Het
Scfd2 T C 5: 74,692,004 (GRCm39) I93V probably benign Het
Sema4f C A 6: 82,894,864 (GRCm39) V444L possibly damaging Het
Slco1a7 T A 6: 141,719,504 (GRCm39) M1L probably damaging Het
Spata33 T C 8: 123,941,134 (GRCm39) L61P unknown Het
Stard10 A T 7: 100,992,343 (GRCm39) probably null Het
Stub1 T C 17: 26,051,038 (GRCm39) I115V probably benign Het
Tlcd3b T C 7: 126,426,667 (GRCm39) F80S probably damaging Het
Tmem247 C T 17: 87,225,710 (GRCm39) T50I probably benign Het
Tnrc6b A G 15: 80,771,223 (GRCm39) M1103V possibly damaging Het
Trim61 T C 8: 65,466,526 (GRCm39) Y245C probably benign Het
Trip13 T C 13: 74,068,130 (GRCm39) I284V probably benign Het
Trpm4 T C 7: 44,976,692 (GRCm39) probably null Het
Ttn C A 2: 76,740,092 (GRCm39) L3528F unknown Het
Ttn A G 2: 76,560,918 (GRCm39) L29161S probably damaging Het
Ube2v2 G A 16: 15,398,948 (GRCm39) T47I probably benign Het
Xylt1 T A 7: 117,236,829 (GRCm39) F526Y probably damaging 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
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'- TAAGACTGCAGACTCAGAGAGC -3'
(R):5'- TCTGGAGCTTCACAGACCTG -3'

Sequencing Primer
(F):5'- AGACTCAGAGAGCAGCCCG -3'
(R):5'- CCATTCTCCAGATTGGGAAACTGAG -3'
Posted On 2019-06-26