Incidental Mutation 'R6170:Vwa7'
ID 490413
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 044431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6170 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35235555-35245717 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35240186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 385 (H385N)
Ref Sequence ENSEMBL: ENSMUSP00000133418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000040151] [ENSMUST00000087315] [ENSMUST00000172499] [ENSMUST00000174037]
AlphaFold Q9JHA8
Predicted Effect possibly damaging
Transcript: ENSMUST00000007245
AA Change: H385N

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030
AA Change: H385N

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: 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 possibly damaging
Transcript: ENSMUST00000172499
AA Change: H385N

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030
AA Change: H385N

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 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
Meta Mutation Damage Score 0.1699 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,555 (GRCm39) S90R probably benign Het
4930523C07Rik C A 1: 159,902,743 (GRCm39) N4K possibly damaging Het
Adgrl2 A G 3: 148,528,645 (GRCm39) S1167P probably damaging Het
Akr1e1 T C 13: 4,652,723 (GRCm39) D94G possibly damaging Het
Anln T C 9: 22,279,793 (GRCm39) N466D probably benign Het
Atp9b T A 18: 80,920,562 (GRCm39) I231L probably benign Het
Bpifb3 T A 2: 153,761,557 (GRCm39) M2K unknown Het
Btbd3 T C 2: 138,120,862 (GRCm39) L12P probably damaging Het
Btnl6 T A 17: 34,734,480 (GRCm39) Y94F probably damaging Het
Cab39 T A 1: 85,746,176 (GRCm39) L19* probably null Het
Cacna2d2 A G 9: 107,404,533 (GRCm39) D1114G probably damaging Het
Cdcp3 A T 7: 130,776,216 (GRCm39) probably null Het
Cdh11 A G 8: 103,361,442 (GRCm39) V632A probably benign Het
Cemip T G 7: 83,596,438 (GRCm39) T1109P possibly damaging Het
Col7a1 C A 9: 108,795,511 (GRCm39) P1522Q unknown Het
Colgalt1 C T 8: 72,074,514 (GRCm39) L409F probably damaging Het
Crtc2 A G 3: 90,166,907 (GRCm39) M125V probably benign Het
Cyp2b19 T G 7: 26,458,519 (GRCm39) M78R possibly damaging Het
Cyp4a12a A C 4: 115,184,643 (GRCm39) D308A possibly damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Ddah1 A G 3: 145,597,261 (GRCm39) D166G probably benign Het
Dmtn T C 14: 70,854,795 (GRCm39) D60G probably damaging Het
Dsg1a A T 18: 20,469,043 (GRCm39) D607V probably damaging Het
Ebf1 T A 11: 44,774,712 (GRCm39) N236K probably damaging Het
Emc1 A G 4: 139,093,689 (GRCm39) T600A probably benign Het
Fbxo33 T C 12: 59,251,435 (GRCm39) N360S probably benign Het
Fbxw5 A G 2: 25,393,615 (GRCm39) D72G possibly damaging Het
Fhad1 T A 4: 141,618,263 (GRCm39) K1388* probably null Het
Fzd7 A G 1: 59,523,004 (GRCm39) M296V probably benign Het
Gdpd3 T C 7: 126,370,336 (GRCm39) I257T probably benign Het
Glt28d2 T G 3: 85,779,248 (GRCm39) D75A possibly damaging Het
Gm14295 G A 2: 176,502,937 (GRCm39) probably benign Het
Gm28729 A G 9: 96,401,494 (GRCm39) I98T probably damaging Het
Gm4924 C T 10: 82,213,065 (GRCm39) Q288* probably null Het
Gpr150 T C 13: 76,204,676 (GRCm39) M90V probably damaging Het
Ireb2 G A 9: 54,794,656 (GRCm39) V331I probably benign Het
Lpcat2b A T 5: 107,581,760 (GRCm39) Y363F probably benign Het
Me2 T C 18: 73,918,852 (GRCm39) I410V probably benign Het
Naxe T C 3: 87,965,537 (GRCm39) E58G probably damaging Het
Nlrp10 T A 7: 108,523,671 (GRCm39) D603V probably benign Het
Nlrp1b T A 11: 71,046,905 (GRCm39) Y1149F probably damaging Het
Nrg1 A G 8: 32,308,508 (GRCm39) Y503H probably damaging Het
Nxpe4 C T 9: 48,304,104 (GRCm39) P64S probably benign Het
Pkd1l3 A T 8: 110,349,811 (GRCm39) T219S unknown Het
Plagl1 T C 10: 13,002,975 (GRCm39) L81P probably damaging Het
Poglut3 T C 9: 53,311,042 (GRCm39) V481A possibly damaging Het
Polq A G 16: 36,866,174 (GRCm39) Q457R possibly damaging Het
Potefam1 A G 2: 111,058,293 (GRCm39) Y167H probably benign Het
Ppargc1a C A 5: 51,631,253 (GRCm39) A459S probably damaging Het
Ppp1r13l A G 7: 19,104,362 (GRCm39) D253G probably benign Het
Prl2c2 T A 13: 13,176,757 (GRCm39) N55Y probably damaging Het
Prlr T C 15: 10,328,935 (GRCm39) F470S probably benign Het
Serpina12 T C 12: 104,004,500 (GRCm39) D44G probably benign Het
Sfxn1 T G 13: 54,260,526 (GRCm39) S291R probably benign Het
Sipa1l1 A G 12: 82,388,446 (GRCm39) D224G probably benign Het
Slc30a7 A G 3: 115,784,392 (GRCm39) F123S probably damaging Het
Spata31f1a A G 4: 42,849,345 (GRCm39) V937A probably benign Het
Stox2 T A 8: 47,645,055 (GRCm39) M802L probably benign Het
Tmem150a G A 6: 72,333,728 (GRCm39) R30H probably benign Het
Tmem210 G A 2: 25,178,776 (GRCm39) probably null Het
Tor3a T C 1: 156,484,143 (GRCm39) N269S possibly damaging Het
Trp63 A C 16: 25,703,603 (GRCm39) N423T probably benign Het
Vmn2r60 A G 7: 41,785,045 (GRCm39) I86V possibly damaging Het
Vmn2r74 T C 7: 85,606,348 (GRCm39) I333V probably benign Het
Wdr1 T C 5: 38,687,014 (GRCm39) probably null Het
Wdr31 A G 4: 62,381,661 (GRCm39) Y57H probably damaging Het
Zbtb44 T A 9: 30,964,678 (GRCm39) H29Q probably damaging Het
Zfp532 T A 18: 65,757,509 (GRCm39) S481T probably damaging Het
Zfp955b G T 17: 33,521,084 (GRCm39) R184S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCCTCTCAGGTGAGTTCTATC -3'
(R):5'- ACCCTGGAAGGAAGCTGATG -3'

Sequencing Primer
(F):5'- GTTCAGCAGCTAAGAGTACTTGC -3'
(R):5'- CTGGAAGGAAGCTGATGGAACC -3'
Posted On 2017-10-10