Incidental Mutation 'R4510:Vwa5a'
ID 331214
Institutional Source Beutler Lab
Gene Symbol Vwa5a
Ensembl Gene ENSMUSG00000023186
Gene Name von Willebrand factor A domain containing 5A
Synonyms 5830475I06Rik, Loh11cr2a, BCSC-1
MMRRC Submission 041585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4510 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38629564-38654633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38633853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 19 (N19D)
Ref Sequence ENSEMBL: ENSMUSP00000116251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144] [ENSMUST00000129598]
AlphaFold Q99KC8
Predicted Effect probably benign
Transcript: ENSMUST00000001544
AA Change: N19D

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: N19D

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 benign
Transcript: ENSMUST00000118144
AA Change: N19D

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: N19D

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: ENSMUST00000129598
AA Change: N19D

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,819 (GRCm39) D397E probably benign Het
Abcc10 A G 17: 46,618,136 (GRCm39) F1005L probably damaging Het
Ackr4 T C 9: 103,975,930 (GRCm39) E339G probably benign Het
Adam39 G T 8: 41,279,328 (GRCm39) C573F probably damaging Het
Anks1b A G 10: 90,346,652 (GRCm39) T651A probably benign Het
Aoc1 C A 6: 48,884,740 (GRCm39) H594Q probably damaging Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Atp4a G T 7: 30,423,678 (GRCm39) E928* probably null Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Atp8b5 A G 4: 43,320,629 (GRCm39) T206A probably damaging Het
Atrn G A 2: 130,777,497 (GRCm39) W182* probably null Het
Bltp2 T C 11: 78,168,154 (GRCm39) S1530P possibly damaging Het
Cacna1e G A 1: 154,437,579 (GRCm39) T257I probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Crebrf A G 17: 26,961,938 (GRCm39) Y345C probably benign Het
Cyp26b1 G A 6: 84,551,473 (GRCm39) R248W probably damaging Het
Dclk3 C A 9: 111,297,060 (GRCm39) H201Q probably benign Het
Ddx17 A T 15: 79,422,793 (GRCm39) V315E probably damaging Het
Dhrs11 T C 11: 84,716,342 (GRCm39) *51W probably null Het
Fgfr4 C A 13: 55,309,328 (GRCm39) P455Q possibly damaging Het
Gabbr1 A G 17: 37,380,103 (GRCm39) K697E probably damaging Het
Gcnt1 G A 19: 17,307,641 (GRCm39) T28I probably benign Het
Gga2 G A 7: 121,620,301 (GRCm39) T4M unknown Het
Gm12185 T A 11: 48,799,305 (GRCm39) H396L possibly damaging Het
Gm21976 A G 13: 98,441,839 (GRCm39) R123G probably benign Het
Hecw1 A C 13: 14,531,776 (GRCm39) V166G probably damaging Het
Hpx A G 7: 105,241,295 (GRCm39) V372A possibly damaging Het
Igkv2-109 A G 6: 68,279,962 (GRCm39) Y61C probably damaging Het
Igsf1 A G X: 48,875,050 (GRCm39) F789S probably damaging Het
Il4ra A G 7: 125,175,280 (GRCm39) D496G possibly damaging Het
Ilf3 A G 9: 21,310,511 (GRCm39) T547A possibly damaging Het
Insrr C A 3: 87,715,978 (GRCm39) P558T possibly damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Irak3 T A 10: 119,981,813 (GRCm39) H393L probably damaging Het
Isx G A 8: 75,600,298 (GRCm39) M10I probably benign Het
Itga11 A G 9: 62,668,870 (GRCm39) D709G probably damaging Het
Kcng2 G T 18: 80,338,930 (GRCm39) R453S probably benign Het
Kif5b A G 18: 6,214,011 (GRCm39) V664A probably benign Het
Lalba A G 15: 98,380,422 (GRCm39) L44P probably benign Het
Ldlrad1 T G 4: 107,066,715 (GRCm39) F17V probably benign Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Lrp1 T C 10: 127,429,717 (GRCm39) Y451C probably damaging Het
Lrp2 A T 2: 69,310,406 (GRCm39) N2722K possibly damaging Het
Mctp1 G A 13: 76,973,391 (GRCm39) V431I probably benign Het
Mmrn2 T C 14: 34,125,016 (GRCm39) F866L possibly damaging Het
Mylk2 A G 2: 152,759,330 (GRCm39) E367G probably damaging Het
Nfatc1 A G 18: 80,678,794 (GRCm39) S865P probably damaging Het
Nol6 G C 4: 41,123,526 (GRCm39) T74R probably damaging Het
Notch2 T C 3: 98,053,637 (GRCm39) M2100T probably benign Het
Parp1 A G 1: 180,418,841 (GRCm39) K667R possibly damaging Het
Phlda3 A G 1: 135,694,400 (GRCm39) T72A probably damaging Het
Polg T C 7: 79,105,270 (GRCm39) Q758R probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Pramel19 A T 4: 101,798,757 (GRCm39) M243L probably benign Het
Prkd1 T C 12: 50,439,762 (GRCm39) D355G possibly damaging Het
Prpf8 T C 11: 75,382,652 (GRCm39) Y398H probably damaging Het
Ripk1 T C 13: 34,210,731 (GRCm39) Y309H probably damaging Het
Rngtt A T 4: 33,339,032 (GRCm39) Q279L possibly damaging Het
Rusf1 A T 7: 127,875,312 (GRCm39) F319Y probably damaging Het
Samd4 T A 14: 47,315,042 (GRCm39) V114D probably benign Het
Sec23ip G A 7: 128,380,900 (GRCm39) E956K probably damaging Het
Slc4a1ap A T 5: 31,684,747 (GRCm39) T128S probably benign Het
Slc5a11 A T 7: 122,834,858 (GRCm39) I6F probably benign Het
Slc6a19 A C 13: 73,832,094 (GRCm39) L494R probably damaging Het
Slc6a21 A G 7: 44,936,713 (GRCm39) D189G probably damaging Het
Slc7a1 G T 5: 148,277,372 (GRCm39) A381D probably damaging Het
Smc4 T A 3: 68,923,980 (GRCm39) probably null Het
Stk19 T C 17: 35,051,504 (GRCm39) E17G probably damaging Het
Tekt5 A C 16: 10,175,877 (GRCm39) V556G probably benign Het
Tenm4 T C 7: 96,544,070 (GRCm39) F2029L probably benign Het
Thnsl1 T C 2: 21,217,236 (GRCm39) V330A probably damaging Het
Tnfrsf21 A G 17: 43,375,910 (GRCm39) D432G probably damaging Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Tnrc6c A T 11: 117,633,784 (GRCm39) N1294I possibly damaging Het
Trpm3 A G 19: 22,965,381 (GRCm39) I1625M probably benign Het
Ttn A T 2: 76,575,773 (GRCm39) V25040E probably damaging Het
Washc2 A T 6: 116,197,517 (GRCm39) D250V probably damaging Het
Xpo1 A G 11: 23,237,401 (GRCm39) T755A possibly damaging Het
Zfp462 C T 4: 55,008,934 (GRCm39) T300I possibly damaging Het
Zfp937 A C 2: 150,080,431 (GRCm39) T154P probably damaging Het
Zzef1 A G 11: 72,778,996 (GRCm39) D1819G 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
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'- ACCATGGAGCATCACTGTGG -3'
(R):5'- AGAACAGGCAATATCAGCACTTATG -3'

Sequencing Primer
(F):5'- GGAGCATCACTGTGGTCTAATCAC -3'
(R):5'- CAGGCAATATCAGCACTTATGAATTG -3'
Posted On 2015-07-21