Incidental Mutation 'R4591:Vwa5a'
ID 342833
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 # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38629564-38654633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38646916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 529 (N529I)
Ref Sequence ENSEMBL: ENSMUSP00000113596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144]
AlphaFold Q99KC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000001544
AA Change: N529I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: N529I

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 possibly damaging
Transcript: ENSMUST00000118144
AA Change: N529I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: N529I

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: ENSMUST00000130295
Predicted Effect probably benign
Transcript: ENSMUST00000137972
SMART Domains Protein: ENSMUSP00000121104
Gene: ENSMUSG00000023186

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 45 59 N/A INTRINSIC
Blast:VWA 62 94 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152295
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign 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
R0928:Vwa5a UTSW 9 38,639,303 (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
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'- CAGGTTATGTGTCAGTTTTGTCACC -3'
(R):5'- AGTCAGAGGTTAGGTCCAGG -3'

Sequencing Primer
(F):5'- AAGGTCCCATCCTGAGGCATC -3'
(R):5'- TTAGGTCCAGGAAAGACTGAAC -3'
Posted On 2015-09-24