Incidental Mutation 'R0928:Vwa5a'
ID 80658
Institutional Source Beutler Lab
Gene Symbol Vwa5a
Ensembl Gene ENSMUSG00000023186
Gene Name von Willebrand factor A domain containing 5A
Synonyms 5830475I06Rik, Loh11cr2a, BCSC-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0928 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38629564-38654633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38639303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 345 (Y345H)
Ref Sequence ENSEMBL: ENSMUSP00000113596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144]
AlphaFold Q99KC8
Predicted Effect probably damaging
Transcript: ENSMUST00000001544
AA Change: Y345H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: Y345H

DomainStartEndE-ValueType
VIT 1 131 2.59e-61 SMART
VWA 279 460 2.61e-12 SMART
low complexity region 615 629 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
Blast:VWA 681 713 2e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000118144
AA Change: Y345H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: Y345H

DomainStartEndE-ValueType
VIT 1 131 2.59e-61 SMART
VWA 279 460 2.61e-12 SMART
low complexity region 615 629 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
Blast:VWA 681 713 2e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149376
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,388,333 (GRCm39) D179V probably benign Het
Abcc1 T C 16: 14,207,849 (GRCm39) probably null Het
Adad1 G A 3: 37,130,889 (GRCm39) probably null Het
Apobec4 T C 1: 152,632,028 (GRCm39) Y19H probably damaging Het
Bco2 T A 9: 50,457,231 (GRCm39) T104S probably damaging Het
Bnc1 A G 7: 81,623,250 (GRCm39) V659A probably benign Het
Ccdc168 C A 1: 44,096,388 (GRCm39) S1570I possibly damaging Het
Ccs T C 19: 4,875,988 (GRCm39) E184G probably damaging Het
Cfap70 T G 14: 20,493,987 (GRCm39) K97N probably damaging Het
Cracdl T C 1: 37,663,663 (GRCm39) D745G possibly damaging Het
Daam2 T C 17: 49,795,255 (GRCm39) I313V probably benign Het
Dach1 T C 14: 98,153,268 (GRCm39) S467G probably damaging Het
Dnah11 A G 12: 118,009,297 (GRCm39) S2122P probably damaging Het
Dnah3 T A 7: 119,629,274 (GRCm39) D1427V probably damaging Het
Dnai1 T C 4: 41,602,566 (GRCm39) F97L possibly damaging Het
Dsc1 A T 18: 20,243,306 (GRCm39) probably null Het
En2 A T 5: 28,375,329 (GRCm39) K291* probably null Het
Eps15 T C 4: 109,170,160 (GRCm39) V154A possibly damaging Het
Etnk1 A G 6: 143,130,429 (GRCm39) I183V probably benign Het
Fcrlb A T 1: 170,735,509 (GRCm39) V255D possibly damaging Het
Fry A T 5: 150,360,549 (GRCm39) E52V probably damaging Het
Garre1 A T 7: 33,947,671 (GRCm39) probably null Het
Gm57858 A C 3: 36,079,515 (GRCm39) N258K possibly damaging Het
Gtf2h4 T C 17: 35,981,777 (GRCm39) Y152C probably damaging Het
Hao1 C A 2: 134,347,536 (GRCm39) L256F possibly damaging Het
Helz T A 11: 107,517,519 (GRCm39) I685K probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Izumo2 A T 7: 44,364,847 (GRCm39) I171F possibly damaging Het
Krt87 C A 15: 101,389,161 (GRCm39) C57F probably benign Het
Mapkbp1 A G 2: 119,845,849 (GRCm39) H400R probably benign Het
Megf6 T A 4: 154,261,504 (GRCm39) V43E probably damaging Het
Mmut T C 17: 41,248,174 (GRCm39) I67T probably benign Het
Ninl A T 2: 150,805,395 (GRCm39) V396E probably damaging Het
Nvl A T 1: 180,921,467 (GRCm39) V844E probably benign Het
Or2b6 C T 13: 21,823,126 (GRCm39) C189Y probably damaging Het
P2rx3 A T 2: 84,865,642 (GRCm39) M1K probably null Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm39) probably null Het
Prmt6 C T 3: 110,157,998 (GRCm39) G97D probably damaging Het
Prmt9 T C 8: 78,307,805 (GRCm39) V823A probably damaging Het
Skic3 T G 13: 76,261,711 (GRCm39) L142W probably damaging Het
Skint11 C A 4: 114,101,798 (GRCm39) D79E possibly damaging Het
Slc17a8 T A 10: 89,434,545 (GRCm39) H194L probably damaging Het
Slco6c1 T A 1: 97,032,573 (GRCm39) I293F possibly damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tm9sf1 T C 14: 55,873,914 (GRCm39) D528G probably damaging Het
Tpbpb C T 13: 61,049,989 (GRCm39) V47I probably benign Het
Ttn G T 2: 76,737,876 (GRCm39) probably benign Het
Usp28 T G 9: 48,942,191 (GRCm39) S341A possibly damaging Het
Wdr11 C A 7: 129,208,377 (GRCm39) D377E probably damaging Het
Zer1 A G 2: 29,991,775 (GRCm39) probably null Het
Other mutations in Vwa5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Vwa5a APN 9 38,649,110 (GRCm39) splice site probably null
IGL00966:Vwa5a APN 9 38,634,675 (GRCm39) missense probably benign 0.24
IGL01597:Vwa5a APN 9 38,645,161 (GRCm39) missense probably damaging 1.00
IGL01950:Vwa5a APN 9 38,638,266 (GRCm39) missense probably damaging 1.00
IGL02008:Vwa5a APN 9 38,649,072 (GRCm39) missense probably benign 0.08
IGL02326:Vwa5a APN 9 38,649,252 (GRCm39) missense probably benign
IGL02378:Vwa5a APN 9 38,645,266 (GRCm39) missense probably benign 0.41
IGL02442:Vwa5a APN 9 38,646,080 (GRCm39) missense probably benign 0.02
IGL02458:Vwa5a APN 9 38,638,259 (GRCm39) missense possibly damaging 0.79
IGL02570:Vwa5a APN 9 38,646,167 (GRCm39) unclassified probably benign
IGL03068:Vwa5a APN 9 38,646,143 (GRCm39) missense probably benign 0.45
R0126:Vwa5a UTSW 9 38,649,103 (GRCm39) splice site probably null
R0325:Vwa5a UTSW 9 38,639,961 (GRCm39) missense probably damaging 1.00
R0617:Vwa5a UTSW 9 38,635,191 (GRCm39) missense probably damaging 1.00
R1334:Vwa5a UTSW 9 38,646,037 (GRCm39) missense probably benign 0.01
R1446:Vwa5a UTSW 9 38,645,264 (GRCm39) missense possibly damaging 0.95
R1708:Vwa5a UTSW 9 38,639,128 (GRCm39) missense probably benign
R1986:Vwa5a UTSW 9 38,649,110 (GRCm39) splice site probably benign
R2024:Vwa5a UTSW 9 38,647,357 (GRCm39) missense probably damaging 0.98
R2230:Vwa5a UTSW 9 38,645,174 (GRCm39) missense probably null 1.00
R2252:Vwa5a UTSW 9 38,639,376 (GRCm39) missense probably damaging 1.00
R2278:Vwa5a UTSW 9 38,634,503 (GRCm39) missense probably damaging 1.00
R3912:Vwa5a UTSW 9 38,646,039 (GRCm39) missense probably damaging 0.97
R3913:Vwa5a UTSW 9 38,646,039 (GRCm39) missense probably damaging 0.97
R4172:Vwa5a UTSW 9 38,635,166 (GRCm39) missense probably damaging 0.98
R4244:Vwa5a UTSW 9 38,649,112 (GRCm39) splice site probably benign
R4510:Vwa5a UTSW 9 38,633,853 (GRCm39) missense possibly damaging 0.60
R4511:Vwa5a UTSW 9 38,633,853 (GRCm39) missense possibly damaging 0.60
R4549:Vwa5a UTSW 9 38,649,221 (GRCm39) missense probably benign 0.09
R4591:Vwa5a UTSW 9 38,646,916 (GRCm39) missense possibly damaging 0.94
R4639:Vwa5a UTSW 9 38,638,410 (GRCm39) critical splice donor site probably null
R4811:Vwa5a UTSW 9 38,647,249 (GRCm39) missense probably benign 0.00
R4911:Vwa5a UTSW 9 38,649,268 (GRCm39) missense probably benign 0.03
R4936:Vwa5a UTSW 9 38,647,494 (GRCm39) missense probably benign 0.00
R4989:Vwa5a UTSW 9 38,633,926 (GRCm39) missense probably benign 0.40
R5370:Vwa5a UTSW 9 38,652,512 (GRCm39) missense probably benign 0.02
R5596:Vwa5a UTSW 9 38,633,874 (GRCm39) missense probably damaging 1.00
R5914:Vwa5a UTSW 9 38,653,038 (GRCm39) missense probably benign 0.00
R6207:Vwa5a UTSW 9 38,633,968 (GRCm39) missense probably damaging 1.00
R6486:Vwa5a UTSW 9 38,645,174 (GRCm39) missense probably null 1.00
R7666:Vwa5a UTSW 9 38,645,259 (GRCm39) missense probably benign 0.06
R7683:Vwa5a UTSW 9 38,646,125 (GRCm39) missense probably damaging 1.00
R7763:Vwa5a UTSW 9 38,652,458 (GRCm39) missense possibly damaging 0.93
R7839:Vwa5a UTSW 9 38,634,799 (GRCm39) missense probably damaging 0.98
R7996:Vwa5a UTSW 9 38,639,124 (GRCm39) nonsense probably null
R8024:Vwa5a UTSW 9 38,647,316 (GRCm39) nonsense probably null
R8491:Vwa5a UTSW 9 38,652,476 (GRCm39) missense probably damaging 0.99
R9572:Vwa5a UTSW 9 38,649,239 (GRCm39) missense probably benign 0.10
X0022:Vwa5a UTSW 9 38,647,258 (GRCm39) missense probably damaging 1.00
X0067:Vwa5a UTSW 9 38,634,547 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGTGGACTCTGAACGGTTGTGC -3'
(R):5'- TCTACGCTGTCACAGAGACTCTCC -3'

Sequencing Primer
(F):5'- ACAATGTGCAGTGTGTGC -3'
(R):5'- CTGCTGACCACATGGAATAATG -3'
Posted On 2013-11-07