Incidental Mutation 'IGL01736:Vwa7'
ID 105717
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 # IGL01736
Quality Score
Status
Chromosome 17
Chromosomal Location 35235555-35245717 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35238827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 305 (F305S)
Ref Sequence ENSEMBL: ENSMUSP00000133418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000087315] [ENSMUST00000172499] [ENSMUST00000173584]
AlphaFold Q9JHA8
Predicted Effect probably damaging
Transcript: ENSMUST00000007245
AA Change: F305S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: F305S

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: ENSMUST00000087315
SMART Domains Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
Pfam:GST_N 2 81 5.7e-16 PFAM
Pfam:GST_C 107 198 7.3e-13 PFAM
low complexity region 234 256 N/A INTRINSIC
low complexity region 261 271 N/A INTRINSIC
Pfam:tRNA-synt_1 307 938 2e-197 PFAM
Pfam:tRNA-synt_1g 336 496 6e-6 PFAM
Pfam:tRNA-synt_1_2 555 623 1.9e-11 PFAM
Pfam:Anticodon_1 983 1138 2.6e-34 PFAM
low complexity region 1153 1174 N/A INTRINSIC
low complexity region 1207 1225 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172499
AA Change: F305S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: F305S

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: ENSMUST00000172637
Predicted Effect probably benign
Transcript: ENSMUST00000173142
SMART Domains Protein: ENSMUSP00000134669
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
SCOP:d1gaxa3 32 67 3e-7 SMART
PDB:1IYW|B 36 122 4e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000173584
SMART Domains Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
Pfam:GST_C 96 198 7.8e-14 PFAM
low complexity region 234 256 N/A INTRINSIC
low complexity region 261 271 N/A INTRINSIC
Pfam:tRNA-synt_1 307 938 1.9e-200 PFAM
Pfam:tRNA-synt_1g 336 493 2.1e-7 PFAM
Pfam:tRNA-synt_1_2 555 623 1.1e-12 PFAM
Pfam:Anticodon_1 983 1138 7.2e-36 PFAM
low complexity region 1153 1174 N/A INTRINSIC
coiled coil region 1197 1225 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174084
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign Het
Other mutations in Vwa7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Vwa7 APN 17 35,243,918 (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
IGL03263:Vwa7 APN 17 35,240,575 (GRCm39) missense probably benign 0.16
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 2014-01-21