Incidental Mutation 'R6966:Vwa7'
ID 542025
Institutional Source Beutler Lab
Gene Symbol Vwa7
Ensembl Gene ENSMUSG00000007030
Gene Name von Willebrand factor A domain containing 7
Synonyms G7c, D17H6S56E-3
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35235555-35245717 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35236072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 9 (S9P)
Ref Sequence ENSEMBL: ENSMUSP00000133418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000087315] [ENSMUST00000172499] [ENSMUST00000173584]
AlphaFold Q9JHA8
Predicted Effect probably benign
Transcript: ENSMUST00000007245
AA Change: S9P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: S9P

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 benign
Transcript: ENSMUST00000172499
AA Change: S9P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: S9P

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,974,472 (GRCm39) R177C possibly damaging Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Bahcc1 G A 11: 120,173,985 (GRCm39) V1582M probably damaging Het
Baiap2 A T 11: 119,897,231 (GRCm39) R529* probably null Het
Bcl9l C T 9: 44,420,685 (GRCm39) Q1327* probably null Het
Brsk2 T A 7: 141,538,270 (GRCm39) C139S possibly damaging Het
Catsper3 T A 13: 55,946,672 (GRCm39) I123N probably damaging Het
Cd84 A G 1: 171,713,976 (GRCm39) N325D possibly damaging Het
Chid1 T A 7: 141,076,297 (GRCm39) Y357F possibly damaging Het
Clstn2 A T 9: 97,408,459 (GRCm39) Y416* probably null Het
Cnot1 A T 8: 96,451,160 (GRCm39) L2189Q probably damaging Het
Csnk2b T A 17: 35,336,758 (GRCm39) I170L probably benign Het
Dnah3 T C 7: 119,631,977 (GRCm39) Q1326R probably damaging Het
Drd1 T C 13: 54,207,564 (GRCm39) I210V probably damaging Het
Eef1d G T 15: 75,775,558 (GRCm39) Q34K probably benign Het
Fam184a T C 10: 53,531,095 (GRCm39) T760A probably benign Het
Fnip1 G T 11: 54,373,385 (GRCm39) V199F probably benign Het
Glyatl3 T C 17: 41,215,829 (GRCm39) K226E probably damaging Het
Gm19410 C T 8: 36,285,127 (GRCm39) T2093I possibly damaging Het
Herc1 A T 9: 66,318,347 (GRCm39) E1206D probably benign Het
Hs6st1 G A 1: 36,143,299 (GRCm39) W411* probably null Het
Hsf2 C A 10: 57,372,080 (GRCm39) S60R probably damaging Het
Hyal5 C A 6: 24,891,291 (GRCm39) N368K probably damaging Het
Itgb2l A T 16: 96,231,843 (GRCm39) F308I probably benign Het
Kdm7a G A 6: 39,129,773 (GRCm39) L468F probably damaging Het
Lamp3 A T 16: 19,518,403 (GRCm39) L278* probably null Het
Ly6c1 A T 15: 74,917,289 (GRCm39) probably benign Het
Mark3 A G 12: 111,606,458 (GRCm39) N524D probably damaging Het
Met T G 6: 17,531,531 (GRCm39) L603R possibly damaging Het
Mical1 A T 10: 41,355,750 (GRCm39) Q198L probably damaging Het
Nacad T A 11: 6,552,634 (GRCm39) I186F possibly damaging Het
Nt5c3b A T 11: 100,320,750 (GRCm39) M257K probably benign Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Nub1 T A 5: 24,894,470 (GRCm39) Y51N probably damaging Het
Nxpe5 T C 5: 138,237,679 (GRCm39) S68P probably damaging Het
Or10ag58 C T 2: 87,265,623 (GRCm39) T264I probably damaging Het
Or5d44 A G 2: 88,141,835 (GRCm39) S102P probably benign Het
Or6c66 A G 10: 129,461,633 (GRCm39) V99A probably benign Het
Pias3 A G 3: 96,609,511 (GRCm39) D276G probably damaging Het
Setd7 A G 3: 51,437,605 (GRCm39) Y217H probably damaging Het
Slc23a1 A T 18: 35,758,114 (GRCm39) I142N probably damaging Het
Slx4ip T C 2: 136,910,144 (GRCm39) S310P probably damaging Het
Tcp11l2 G A 10: 84,427,133 (GRCm39) R199Q possibly damaging Het
Tgm4 T A 9: 122,880,207 (GRCm39) D226E possibly damaging Het
Tspyl4 C A 10: 34,173,673 (GRCm39) A55E probably benign Het
Uap1l1 A G 2: 25,254,950 (GRCm39) I146T probably damaging Het
Ush2a G A 1: 188,308,441 (GRCm39) G2030D probably damaging Het
Uts2r G A 11: 121,052,213 (GRCm39) G359D possibly damaging Het
Zbtb16 A G 9: 48,568,654 (GRCm39) C604R probably damaging Het
Zfp804b A G 5: 6,821,615 (GRCm39) S483P probably damaging Het
Zfpm1 G A 8: 123,058,904 (GRCm39) A175T 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTATGGGTTGCAGGCACAG -3'
(R):5'- CCAGGTGAATCTAAGGTGCTCAC -3'

Sequencing Primer
(F):5'- TTGCAGGCACAGGGAGG -3'
(R):5'- CTCTACATGGAGGCGTGGTC -3'
Posted On 2018-11-28