Incidental Mutation 'IGL03263:Vwa7'
ID 414980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa7
Ensembl Gene ENSMUSG00000007030
Gene Name von Willebrand factor A domain containing 7
Synonyms G7c, D17H6S56E-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03263
Quality Score
Status
Chromosome 17
Chromosomal Location 35235555-35245717 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35240575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 410 (E410G)
Ref Sequence ENSEMBL: ENSMUSP00000133418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000040151] [ENSMUST00000172499] [ENSMUST00000174037] [ENSMUST00000174117]
AlphaFold Q9JHA8
Predicted Effect probably benign
Transcript: ENSMUST00000007245
AA Change: E431G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: E431G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
VWA 314 499 2.59e0 SMART
low complexity region 683 701 N/A INTRINSIC
low complexity region 840 861 N/A INTRINSIC
low complexity region 864 877 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040151
SMART Domains Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185

DomainStartEndE-ValueType
Pfam:Suppressor_APC 35 114 2.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172499
AA Change: E410G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: E410G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
VWA 314 478 7.28e0 SMART
low complexity region 662 680 N/A INTRINSIC
low complexity region 819 840 N/A INTRINSIC
low complexity region 843 856 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173211
Predicted Effect probably benign
Transcript: ENSMUST00000174037
SMART Domains Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185

DomainStartEndE-ValueType
low complexity region 55 65 N/A INTRINSIC
low complexity region 70 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174117
SMART Domains Protein: ENSMUSP00000134423
Gene: ENSMUSG00000036185

DomainStartEndE-ValueType
low complexity region 55 65 N/A INTRINSIC
low complexity region 70 84 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,562,499 (GRCm39) I81F probably damaging Het
Acacb C T 5: 114,351,754 (GRCm39) H1164Y probably damaging Het
Adamts5 A T 16: 85,666,830 (GRCm39) V554E probably damaging Het
Asns G A 6: 7,689,404 (GRCm39) R33C probably benign Het
BC051076 T G 5: 88,111,977 (GRCm39) noncoding transcript Het
Bcas3 C T 11: 85,712,948 (GRCm39) probably benign Het
Bpifb1 A G 2: 154,057,226 (GRCm39) M395V probably benign Het
Cdcp1 C A 9: 123,009,152 (GRCm39) V509L probably benign Het
Cdhr2 A G 13: 54,865,926 (GRCm39) T277A possibly damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clca4a T A 3: 144,672,192 (GRCm39) E250V probably damaging Het
Cplx4 T C 18: 66,100,559 (GRCm39) D79G probably benign Het
Dcaf11 A G 14: 55,802,949 (GRCm39) D246G probably damaging Het
Dnah2 A T 11: 69,420,207 (GRCm39) probably null Het
Dock3 A T 9: 106,807,330 (GRCm39) probably benign Het
Fam170a T C 18: 50,413,588 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,782,149 (GRCm39) M423L probably benign Het
Gabra2 A G 5: 71,130,836 (GRCm39) F331L probably damaging Het
Galnt18 C T 7: 111,119,321 (GRCm39) R400Q probably damaging Het
H2-M11 A T 17: 36,859,805 (GRCm39) Q266L probably damaging Het
Igf2bp1 A T 11: 95,857,499 (GRCm39) V502D probably damaging Het
Ik A G 18: 36,881,699 (GRCm39) N111S probably damaging Het
Intu T A 3: 40,627,027 (GRCm39) Y269* probably null Het
Krt82 T C 15: 101,450,307 (GRCm39) Y463C probably benign Het
Lrig1 A G 6: 94,588,628 (GRCm39) M507T probably benign Het
Lrrc37 A G 11: 103,504,525 (GRCm39) V2481A possibly damaging Het
Mag T G 7: 30,598,953 (GRCm39) probably null Het
Map7 T A 10: 20,121,068 (GRCm39) Y121* probably null Het
Marchf6 A G 15: 31,486,508 (GRCm39) I349T probably benign Het
Mas1 A G 17: 13,060,451 (GRCm39) V324A possibly damaging Het
Nckap1l T C 15: 103,372,832 (GRCm39) W259R probably damaging Het
Nhsl1 T A 10: 18,373,827 (GRCm39) Y164* probably null Het
Or52e5 T A 7: 104,719,209 (GRCm39) H178Q probably damaging Het
Or8b38 A T 9: 37,973,009 (GRCm39) Y131F probably damaging Het
Pcdhb2 A G 18: 37,429,059 (GRCm39) D344G probably damaging Het
Pclo T C 5: 14,731,824 (GRCm39) V3442A unknown Het
Polr3c C T 3: 96,621,567 (GRCm39) probably benign Het
Ppp2r2d C T 7: 138,474,651 (GRCm39) R11* probably null Het
Ptgfr T A 3: 151,541,500 (GRCm39) M3L probably benign Het
Rfx6 A G 10: 51,601,903 (GRCm39) S741G probably benign Het
Rif1 T C 2: 51,980,273 (GRCm39) V490A probably damaging Het
Samd7 T A 3: 30,816,302 (GRCm39) H349Q probably damaging Het
Sh3pxd2a T C 19: 47,302,482 (GRCm39) N199S probably damaging Het
Spef2 T A 15: 9,667,305 (GRCm39) K794N possibly damaging Het
Spta1 C T 1: 174,041,484 (GRCm39) A1316V probably damaging Het
Washc2 T A 6: 116,215,084 (GRCm39) probably benign Het
Wdr72 A C 9: 74,064,711 (GRCm39) Y581S probably damaging Het
Zdhhc17 T C 10: 110,796,877 (GRCm39) D298G probably damaging Het
Other mutations in Vwa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Vwa7 APN 17 35,243,918 (GRCm39) missense probably damaging 1.00
IGL01736:Vwa7 APN 17 35,238,827 (GRCm39) missense probably damaging 1.00
IGL01868:Vwa7 APN 17 35,240,235 (GRCm39) missense probably null 0.96
IGL01920:Vwa7 APN 17 35,243,579 (GRCm39) missense probably benign 0.01
IGL02227:Vwa7 APN 17 35,239,060 (GRCm39) missense probably damaging 1.00
IGL02947:Vwa7 APN 17 35,242,476 (GRCm39) splice site probably null
IGL03259:Vwa7 APN 17 35,239,002 (GRCm39) splice site probably null
R0008:Vwa7 UTSW 17 35,238,781 (GRCm39) missense probably benign 0.33
R0057:Vwa7 UTSW 17 35,243,523 (GRCm39) missense possibly damaging 0.85
R0057:Vwa7 UTSW 17 35,243,523 (GRCm39) missense possibly damaging 0.85
R0418:Vwa7 UTSW 17 35,236,933 (GRCm39) missense possibly damaging 0.57
R0538:Vwa7 UTSW 17 35,241,627 (GRCm39) missense probably damaging 1.00
R1121:Vwa7 UTSW 17 35,236,770 (GRCm39) missense probably damaging 1.00
R1659:Vwa7 UTSW 17 35,238,047 (GRCm39) missense probably benign 0.04
R1766:Vwa7 UTSW 17 35,242,919 (GRCm39) critical splice donor site probably null
R1777:Vwa7 UTSW 17 35,243,924 (GRCm39) missense probably damaging 1.00
R1793:Vwa7 UTSW 17 35,243,388 (GRCm39) nonsense probably null
R1874:Vwa7 UTSW 17 35,236,088 (GRCm39) missense probably benign 0.00
R2139:Vwa7 UTSW 17 35,242,406 (GRCm39) missense probably benign 0.00
R2248:Vwa7 UTSW 17 35,238,019 (GRCm39) missense probably benign 0.04
R2290:Vwa7 UTSW 17 35,236,187 (GRCm39) missense probably damaging 1.00
R2869:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2869:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2870:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2870:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2871:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2871:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2873:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R2874:Vwa7 UTSW 17 35,240,218 (GRCm39) missense probably damaging 1.00
R3038:Vwa7 UTSW 17 35,241,637 (GRCm39) missense probably damaging 1.00
R3792:Vwa7 UTSW 17 35,244,135 (GRCm39) splice site probably null
R3970:Vwa7 UTSW 17 35,236,684 (GRCm39) missense probably damaging 1.00
R4612:Vwa7 UTSW 17 35,242,426 (GRCm39) missense probably damaging 0.96
R5013:Vwa7 UTSW 17 35,241,709 (GRCm39) missense probably damaging 1.00
R5068:Vwa7 UTSW 17 35,243,166 (GRCm39) missense probably benign 0.25
R5069:Vwa7 UTSW 17 35,243,166 (GRCm39) missense probably benign 0.25
R5070:Vwa7 UTSW 17 35,243,166 (GRCm39) missense probably benign 0.25
R5137:Vwa7 UTSW 17 35,236,822 (GRCm39) missense probably damaging 1.00
R5384:Vwa7 UTSW 17 35,243,902 (GRCm39) splice site probably null
R6170:Vwa7 UTSW 17 35,240,186 (GRCm39) missense possibly damaging 0.56
R6229:Vwa7 UTSW 17 35,243,241 (GRCm39) missense probably benign 0.00
R6249:Vwa7 UTSW 17 35,242,365 (GRCm39) missense probably benign 0.00
R6401:Vwa7 UTSW 17 35,236,286 (GRCm39) splice site probably null
R6429:Vwa7 UTSW 17 35,243,175 (GRCm39) missense probably benign 0.32
R6678:Vwa7 UTSW 17 35,238,776 (GRCm39) missense probably damaging 1.00
R6793:Vwa7 UTSW 17 35,243,867 (GRCm39) missense probably benign 0.06
R6966:Vwa7 UTSW 17 35,236,072 (GRCm39) missense probably benign
R7492:Vwa7 UTSW 17 35,238,020 (GRCm39) missense possibly damaging 0.86
R7903:Vwa7 UTSW 17 35,236,763 (GRCm39) missense probably damaging 1.00
R7922:Vwa7 UTSW 17 35,243,409 (GRCm39) missense possibly damaging 0.81
R8191:Vwa7 UTSW 17 35,238,712 (GRCm39) missense probably damaging 0.96
R8728:Vwa7 UTSW 17 35,236,133 (GRCm39) missense probably damaging 1.00
R8961:Vwa7 UTSW 17 35,238,086 (GRCm39) missense probably damaging 1.00
R9037:Vwa7 UTSW 17 35,236,268 (GRCm39) missense probably benign 0.00
R9275:Vwa7 UTSW 17 35,238,712 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02