Incidental Mutation 'R7434:Vwde'
ID 576625
Institutional Source Beutler Lab
Gene Symbol Vwde
Ensembl Gene ENSMUSG00000079679
Gene Name von Willebrand factor D and EGF domains
Synonyms LOC232585
MMRRC Submission 045511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R7434 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 13156439-13224964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13187639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 616 (V616A)
Ref Sequence ENSEMBL: ENSMUSP00000058110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054530] [ENSMUST00000203074]
AlphaFold Q6DFV8
Predicted Effect probably benign
Transcript: ENSMUST00000054530
AA Change: V616A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: V616A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:ZP 58 163 1e-5 BLAST
low complexity region 192 199 N/A INTRINSIC
VWD 420 588 1.51e-4 SMART
low complexity region 638 651 N/A INTRINSIC
Blast:EGF_like 890 918 2e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000203074
AA Change: V616A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: V616A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 192 199 N/A INTRINSIC
VWD 420 588 7.4e-7 SMART
low complexity region 638 651 N/A INTRINSIC
EGF_like 890 918 1.5e-1 SMART
EGF 1166 1217 8.5e-6 SMART
EGF_like 1182 1233 2.7e-2 SMART
EGF 1222 1254 9.7e-7 SMART
EGF_CA 1256 1295 5.3e-12 SMART
EGF 1446 1483 5e-2 SMART
EGF 1485 1514 3.8e-3 SMART
EGF 1517 1546 3.6e-3 SMART
EGF 1549 1578 8e-7 SMART
EGF 1581 1610 3.4e-3 SMART
EGF 1613 1642 1.5e-3 SMART
EGF 1645 1674 1.1e-5 SMART
EGF 1677 1706 2.5e-4 SMART
EGF 1709 1738 2.5e-3 SMART
EGF 1741 1770 1.8e-2 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,344,115 (GRCm39) V1731A probably damaging Het
Bcat2 A G 7: 45,225,429 (GRCm39) probably null Het
Bcl6 T G 16: 23,788,798 (GRCm39) E523D possibly damaging Het
Cdcp3 C T 7: 130,881,212 (GRCm39) S1828F unknown Het
Col4a2 T A 8: 11,471,250 (GRCm39) N503K probably damaging Het
Cyb5r1 G A 1: 134,335,576 (GRCm39) C166Y probably benign Het
Cyp2w1 T C 5: 139,342,775 (GRCm39) V490A possibly damaging Het
Erich6b A G 14: 75,901,024 (GRCm39) I113V probably benign Het
Fabp12 C T 3: 10,312,738 (GRCm39) V95I probably benign Het
Gask1b T A 3: 79,848,669 (GRCm39) F472I probably damaging Het
Gpr3 T C 4: 132,938,448 (GRCm39) M75V probably benign Het
Grm5 T G 7: 87,779,682 (GRCm39) S1073A probably benign Het
Hoxc9 A G 15: 102,892,414 (GRCm39) K209R probably damaging Het
Irgm2 T G 11: 58,110,291 (GRCm39) V6G probably benign Het
Jakmip2 A G 18: 43,690,444 (GRCm39) V627A possibly damaging Het
Kansl1l C G 1: 66,801,262 (GRCm39) S568T probably damaging Het
Lims1 A G 10: 58,230,301 (GRCm39) T21A probably benign Het
Lpar2 G T 8: 70,279,165 (GRCm39) A320S probably benign Het
Lpcat4 A G 2: 112,073,400 (GRCm39) N235S probably damaging Het
Ly6g2 T C 15: 75,088,567 (GRCm39) F12L probably benign Het
Meis1 A T 11: 18,835,542 (GRCm39) S359T unknown Het
Mtor C T 4: 148,549,416 (GRCm39) T600I probably benign Het
Ncbp1 T C 4: 46,149,910 (GRCm39) S144P probably damaging Het
Ncor1 T C 11: 62,274,025 (GRCm39) E205G probably damaging Het
Nid1 T C 13: 13,643,049 (GRCm39) I329T probably benign Het
Nos3 T C 5: 24,587,633 (GRCm39) I1031T probably damaging Het
Nyap1 A G 5: 137,734,530 (GRCm39) S168P probably damaging Het
Or56a4 A G 7: 104,806,106 (GRCm39) V261A probably damaging Het
Pam T A 1: 97,903,515 (GRCm39) K73* probably null Het
Pcdhga11 T C 18: 37,891,005 (GRCm39) V671A probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ric1 A G 19: 29,552,180 (GRCm39) D317G probably damaging Het
Scn1a T C 2: 66,103,389 (GRCm39) E1957G probably benign Het
Srcap T C 7: 127,159,414 (GRCm39) S3097P unknown Het
Tas2r113 C T 6: 132,870,272 (GRCm39) T100I probably benign Het
Tnni1 A G 1: 135,735,260 (GRCm39) D57G Het
Trim29 G A 9: 43,246,428 (GRCm39) V575I probably damaging Het
Trpv3 G A 11: 73,179,087 (GRCm39) V499M probably damaging Het
Ubr1 C T 2: 120,693,161 (GRCm39) M1748I probably benign Het
Upk1a A T 7: 30,306,617 (GRCm39) M99K probably damaging Het
Usp16 T A 16: 87,276,207 (GRCm39) L515* probably null Het
Vmn1r103 T C 7: 20,244,435 (GRCm39) K9E probably damaging Het
Zfp101 A T 17: 33,600,564 (GRCm39) S397R possibly damaging Het
Other mutations in Vwde
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Vwde APN 6 13,187,411 (GRCm39) missense probably benign 0.00
IGL01391:Vwde APN 6 13,190,526 (GRCm39) missense probably benign 0.07
IGL01432:Vwde APN 6 13,193,239 (GRCm39) missense probably benign 0.18
IGL01611:Vwde APN 6 13,219,977 (GRCm39) missense probably damaging 1.00
IGL01835:Vwde APN 6 13,186,823 (GRCm39) missense probably benign 0.43
IGL01993:Vwde APN 6 13,219,977 (GRCm39) missense possibly damaging 0.89
IGL01997:Vwde APN 6 13,215,705 (GRCm39) missense probably damaging 1.00
IGL02390:Vwde APN 6 13,190,684 (GRCm39) missense probably damaging 1.00
IGL02612:Vwde APN 6 13,187,148 (GRCm39) missense probably damaging 1.00
IGL02723:Vwde APN 6 13,205,759 (GRCm39) missense probably damaging 0.99
IGL02731:Vwde APN 6 13,192,613 (GRCm39) missense probably damaging 1.00
IGL02869:Vwde APN 6 13,187,136 (GRCm39) missense probably damaging 1.00
IGL02981:Vwde APN 6 13,193,112 (GRCm39) missense possibly damaging 0.84
IGL03031:Vwde APN 6 13,208,381 (GRCm39) missense probably benign 0.10
IGL03180:Vwde APN 6 13,205,764 (GRCm39) missense probably damaging 1.00
IGL03182:Vwde APN 6 13,187,138 (GRCm39) missense probably damaging 1.00
willy_brandt UTSW 6 13,208,404 (GRCm39) splice site probably null
C9142:Vwde UTSW 6 13,168,053 (GRCm39) splice site probably benign
R0089:Vwde UTSW 6 13,220,004 (GRCm39) missense probably damaging 1.00
R0244:Vwde UTSW 6 13,193,125 (GRCm39) missense probably benign 0.16
R0355:Vwde UTSW 6 13,187,806 (GRCm39) splice site probably benign
R0455:Vwde UTSW 6 13,187,528 (GRCm39) missense probably benign 0.03
R0465:Vwde UTSW 6 13,215,805 (GRCm39) splice site probably benign
R0946:Vwde UTSW 6 13,187,874 (GRCm39) missense probably damaging 1.00
R1087:Vwde UTSW 6 13,186,803 (GRCm39) missense probably damaging 1.00
R1236:Vwde UTSW 6 13,187,152 (GRCm39) nonsense probably null
R1738:Vwde UTSW 6 13,190,723 (GRCm39) missense probably damaging 1.00
R1891:Vwde UTSW 6 13,187,454 (GRCm39) missense probably damaging 0.98
R2014:Vwde UTSW 6 13,208,337 (GRCm39) missense possibly damaging 0.91
R2015:Vwde UTSW 6 13,208,337 (GRCm39) missense possibly damaging 0.91
R2303:Vwde UTSW 6 13,215,806 (GRCm39) splice site probably benign
R3439:Vwde UTSW 6 13,208,374 (GRCm39) missense probably damaging 0.98
R3688:Vwde UTSW 6 13,186,891 (GRCm39) missense probably damaging 0.96
R4457:Vwde UTSW 6 13,196,100 (GRCm39) missense probably damaging 1.00
R4755:Vwde UTSW 6 13,205,851 (GRCm39) missense possibly damaging 0.94
R4849:Vwde UTSW 6 13,196,047 (GRCm39) missense possibly damaging 0.92
R4850:Vwde UTSW 6 13,196,047 (GRCm39) missense possibly damaging 0.92
R4851:Vwde UTSW 6 13,196,047 (GRCm39) missense possibly damaging 0.92
R4853:Vwde UTSW 6 13,215,639 (GRCm39) missense probably damaging 1.00
R4951:Vwde UTSW 6 13,187,138 (GRCm39) missense probably damaging 1.00
R5023:Vwde UTSW 6 13,192,641 (GRCm39) missense possibly damaging 0.48
R5057:Vwde UTSW 6 13,192,641 (GRCm39) missense possibly damaging 0.48
R5060:Vwde UTSW 6 13,208,323 (GRCm39) splice site probably null
R5126:Vwde UTSW 6 13,187,259 (GRCm39) missense probably benign 0.04
R5154:Vwde UTSW 6 13,215,757 (GRCm39) missense probably benign 0.01
R5277:Vwde UTSW 6 13,186,995 (GRCm39) missense probably benign 0.03
R5432:Vwde UTSW 6 13,190,591 (GRCm39) missense probably damaging 1.00
R5436:Vwde UTSW 6 13,190,627 (GRCm39) missense probably damaging 1.00
R5472:Vwde UTSW 6 13,193,117 (GRCm39) missense probably benign 0.00
R5518:Vwde UTSW 6 13,186,937 (GRCm39) missense probably benign 0.00
R5791:Vwde UTSW 6 13,195,985 (GRCm39) nonsense probably null
R6045:Vwde UTSW 6 13,219,935 (GRCm39) missense probably damaging 1.00
R6262:Vwde UTSW 6 13,205,020 (GRCm39) missense probably damaging 1.00
R6482:Vwde UTSW 6 13,205,843 (GRCm39) missense probably damaging 1.00
R6500:Vwde UTSW 6 13,208,404 (GRCm39) splice site probably null
R6562:Vwde UTSW 6 13,193,122 (GRCm39) missense possibly damaging 0.84
R6905:Vwde UTSW 6 13,205,926 (GRCm39) missense probably damaging 1.00
R7021:Vwde UTSW 6 13,186,905 (GRCm39) missense probably damaging 1.00
R7103:Vwde UTSW 6 13,215,799 (GRCm39) missense probably benign 0.03
R7356:Vwde UTSW 6 13,192,641 (GRCm39) missense probably damaging 0.96
R7492:Vwde UTSW 6 13,204,980 (GRCm39) missense probably null 1.00
R8026:Vwde UTSW 6 13,205,782 (GRCm39) missense probably benign 0.16
R8544:Vwde UTSW 6 13,187,652 (GRCm39) missense probably benign 0.00
R8557:Vwde UTSW 6 13,193,136 (GRCm39) missense probably damaging 1.00
R8995:Vwde UTSW 6 13,195,996 (GRCm39) missense probably damaging 1.00
R9112:Vwde UTSW 6 13,205,051 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- GGCTTAGTTTTCCAGCAAGAGC -3'
(R):5'- GCTTTTATCAATGAATGGAGGTGAG -3'

Sequencing Primer
(F):5'- GCTTCGGAATTGATATATTCAGAGG -3'
(R):5'- TGGAGGTGAGAATTAAGCTATTACTC -3'
Posted On 2019-10-07