Incidental Mutation 'IGL02458:Vwa5a'
ID 294516
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02458
Quality Score
Status
Chromosome 9
Chromosomal Location 38629564-38654633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38638259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000113596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001544] [ENSMUST00000118144] [ENSMUST00000129598]
AlphaFold Q99KC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000001544
AA Change: S261P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: S261P

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: S261P

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: S261P

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: ENSMUST00000129598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149376
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,206,844 (GRCm39) I37L probably benign Het
Alpk1 A G 3: 127,474,968 (GRCm39) probably null Het
Ankrd33 T C 15: 101,014,488 (GRCm39) F8L probably damaging Het
Avil A G 10: 126,852,222 (GRCm39) K669R probably benign Het
Bcor G T X: 11,914,749 (GRCm39) L1165I probably damaging Het
C7 A G 15: 5,088,871 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,875,896 (GRCm39) I958V probably benign Het
Cenpe A T 3: 134,935,869 (GRCm39) K435* probably null Het
Chrna7 G A 7: 62,755,842 (GRCm39) L235F probably damaging Het
Col6a3 C A 1: 90,706,919 (GRCm39) V2065L unknown Het
Copb1 A T 7: 113,846,020 (GRCm39) N183K probably benign Het
Cpn2 G A 16: 30,079,653 (GRCm39) A16V probably benign Het
Cul1 A G 6: 47,502,542 (GRCm39) K769E possibly damaging Het
Deup1 C T 9: 15,503,656 (GRCm39) V302M probably benign Het
Dnah17 T C 11: 117,927,176 (GRCm39) K3871E probably damaging Het
Dnah6 A G 6: 73,004,431 (GRCm39) V3844A probably benign Het
Dnah7a A T 1: 53,657,487 (GRCm39) L763* probably null Het
Donson A T 16: 91,478,064 (GRCm39) W461R probably damaging Het
Dpp10 T C 1: 123,269,418 (GRCm39) I664V probably benign Het
Dusp8 T A 7: 141,636,484 (GRCm39) T369S probably benign Het
Dync2h1 A T 9: 7,117,422 (GRCm39) L56Q probably damaging Het
Ecd A T 14: 20,374,545 (GRCm39) S532T probably benign Het
Frg2f1 G A 4: 119,388,154 (GRCm39) T115I probably damaging Het
Gpatch2l A G 12: 86,335,735 (GRCm39) probably benign Het
Gtf3c2 T A 5: 31,316,867 (GRCm39) probably null Het
Haghl T C 17: 26,002,470 (GRCm39) probably benign Het
Hoxc8 A T 15: 102,901,181 (GRCm39) N208I probably damaging Het
Igf2 T C 7: 142,207,785 (GRCm39) D115G probably benign Het
Jag2 T A 12: 112,879,613 (GRCm39) D385V probably damaging Het
Laptm4b A G 15: 34,258,888 (GRCm39) H54R probably benign Het
Lrp2 A G 2: 69,352,117 (GRCm39) S640P probably damaging Het
Map3k8 A C 18: 4,334,660 (GRCm39) V328G probably damaging Het
Mfsd13a A G 19: 46,360,686 (GRCm39) E388G probably damaging Het
Ms4a13 G A 19: 11,149,292 (GRCm39) T168I probably benign Het
Mtg1 C A 7: 139,730,085 (GRCm39) Q294K probably benign Het
Myh3 C T 11: 66,987,766 (GRCm39) A1413V possibly damaging Het
Neo1 A T 9: 58,801,150 (GRCm39) probably benign Het
Ogfod3 T C 11: 121,091,749 (GRCm39) E119G probably benign Het
Or10ak9 A G 4: 118,726,497 (GRCm39) N173S possibly damaging Het
Or2t49 A T 11: 58,393,073 (GRCm39) M109K probably benign Het
Or4a77 A G 2: 89,487,692 (GRCm39) L31P probably damaging Het
Or5ak20 G A 2: 85,184,006 (GRCm39) T88I probably benign Het
Or6c210 A T 10: 129,496,475 (GRCm39) I267F probably benign Het
Parvb G T 15: 84,187,635 (GRCm39) D248Y probably damaging Het
Pcdh11x A T X: 119,310,315 (GRCm39) H586L possibly damaging Het
Phactr2 T C 10: 13,137,572 (GRCm39) E120G probably damaging Het
Ppfibp2 A T 7: 107,342,171 (GRCm39) Q775L probably damaging Het
Rcbtb1 A G 14: 59,467,443 (GRCm39) Y427C probably damaging Het
Rftn2 A T 1: 55,250,351 (GRCm39) C131* probably null Het
Rigi A G 4: 40,229,536 (GRCm39) S83P probably damaging Het
Rps6ka2 A G 17: 7,556,402 (GRCm39) D474G probably benign Het
Rsbn1l T C 5: 21,156,734 (GRCm39) E17G probably damaging Het
Ryr2 T C 13: 11,720,585 (GRCm39) M2688V probably benign Het
Slc22a18 C A 7: 143,046,574 (GRCm39) probably benign Het
Smarcc1 A G 9: 109,961,194 (GRCm39) probably benign Het
Soat2 T C 15: 102,070,550 (GRCm39) V451A probably damaging Het
Sptlc2 A T 12: 87,356,667 (GRCm39) probably benign Het
Tada1 C T 1: 166,220,203 (GRCm39) L308F probably damaging Het
Tango2 A T 16: 18,128,731 (GRCm39) probably null Het
Tbc1d15 A T 10: 115,065,111 (GRCm39) V158D probably damaging Het
Tmx2 A T 2: 84,503,588 (GRCm39) probably benign Het
Tpte T A 8: 22,795,874 (GRCm39) I79K probably benign Het
Trav6-1 A G 14: 52,876,199 (GRCm39) I40V probably benign Het
Trgv3 A G 13: 19,427,423 (GRCm39) Y102C probably damaging Het
Ubash3a T C 17: 31,450,455 (GRCm39) S377P possibly damaging Het
Vmn2r7 T C 3: 64,600,446 (GRCm39) D575G probably damaging Het
Vps41 A G 13: 19,037,649 (GRCm39) D704G possibly damaging Het
Zc3hav1 A G 6: 38,317,264 (GRCm39) V112A probably damaging 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
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
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
Posted On 2015-04-16