Incidental Mutation 'R1738:Vwde'
ID 199859
Institutional Source Beutler Lab
Gene Symbol Vwde
Ensembl Gene ENSMUSG00000079679
Gene Name von Willebrand factor D and EGF domains
Synonyms LOC232585
MMRRC Submission 039770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R1738 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 13156439-13224964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13190723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 456 (V456D)
Ref Sequence ENSEMBL: ENSMUSP00000058110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054530] [ENSMUST00000203074]
AlphaFold Q6DFV8
Predicted Effect probably damaging
Transcript: ENSMUST00000054530
AA Change: V456D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: V456D

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: V456D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: V456D

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.7%
  • 20x: 89.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,682,475 (GRCm39) Y202C probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgrl3 T G 5: 81,535,826 (GRCm39) M155R probably damaging Het
Ak9 A T 10: 41,211,917 (GRCm39) Q218L possibly damaging Het
Akap13 G A 7: 75,326,942 (GRCm39) G647D probably damaging Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Arhgap19 A G 19: 41,772,820 (GRCm39) I291T probably benign Het
BC049715 C T 6: 136,817,306 (GRCm39) P182L probably damaging Het
Bsn T C 9: 107,984,133 (GRCm39) D3307G unknown Het
Cby2 C T 14: 75,830,497 (GRCm39) M1I probably null Het
Ces2h T A 8: 105,745,697 (GRCm39) probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a3 T C 1: 90,744,083 (GRCm39) E88G probably damaging Het
Coro6 A G 11: 77,360,251 (GRCm39) D407G probably benign Het
Cpe A T 8: 65,064,475 (GRCm39) F241L probably damaging Het
Csde1 A G 3: 102,936,493 (GRCm39) probably benign Het
Cspg4b T G 13: 113,504,034 (GRCm39) L179R possibly damaging Het
Dgki A G 6: 37,034,367 (GRCm39) I361T possibly damaging Het
Dnah3 A G 7: 119,634,582 (GRCm39) V1298A probably damaging Het
Duox2 T A 2: 122,123,895 (GRCm39) I430F probably damaging Het
Gak T C 5: 108,764,842 (GRCm39) Y153C probably damaging Het
Gal3st2 T A 1: 93,802,318 (GRCm39) probably null Het
Gbp11 T C 5: 105,474,510 (GRCm39) N389D probably benign Het
Grm1 A G 10: 10,812,163 (GRCm39) V287A probably damaging Het
Hsp90ab1 T C 17: 45,882,732 (GRCm39) K36E probably damaging Het
Il24 T A 1: 130,815,099 (GRCm39) probably null Het
Ino80d T C 1: 63,132,624 (GRCm39) D13G probably damaging Het
Ipp G A 4: 116,387,618 (GRCm39) V399I probably benign Het
Kank3 A T 17: 34,036,168 (GRCm39) D12V probably damaging Het
Lcn12 A T 2: 25,383,263 (GRCm39) S74R probably damaging Het
Mast3 T C 8: 71,237,200 (GRCm39) T637A probably benign Het
Nes C A 3: 87,883,728 (GRCm39) Y662* probably null Het
Nudt13 A T 14: 20,359,762 (GRCm39) H163L probably damaging Het
Or1j17 T C 2: 36,578,797 (GRCm39) V261A probably benign Het
Or4a2 T C 2: 89,248,362 (GRCm39) T132A probably benign Het
Or4p7 G A 2: 88,221,671 (GRCm39) V27I probably benign Het
Or8k1 A T 2: 86,048,060 (GRCm39) probably null Het
Pde6b C T 5: 108,578,425 (GRCm39) R788* probably null Het
Pex13 A G 11: 23,599,458 (GRCm39) L351P probably benign Het
Phc1 A G 6: 122,295,525 (GRCm39) M942T probably damaging Het
Plch1 A T 3: 63,626,659 (GRCm39) D571E probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhh2 A G 17: 84,874,125 (GRCm39) N470S possibly damaging Het
Primpol A G 8: 47,060,873 (GRCm39) S82P probably damaging Het
Prkg1 T C 19: 30,764,322 (GRCm39) D256G possibly damaging Het
Prune2 A G 19: 17,102,374 (GRCm39) E2511G probably benign Het
Rassf8 T C 6: 145,761,034 (GRCm39) I120T probably benign Het
Rfx4 G A 10: 84,716,839 (GRCm39) probably null Het
Rtp2 A T 16: 23,746,423 (GRCm39) N69K probably benign Het
Sh3d19 A T 3: 86,027,913 (GRCm39) I597F probably damaging Het
Sorl1 T A 9: 42,001,261 (GRCm39) E246D probably benign Het
Tet2 T A 3: 133,187,148 (GRCm39) I1094L probably benign Het
Tlr4 A T 4: 66,759,313 (GRCm39) H702L probably benign Het
Tnfrsf14 T C 4: 155,009,788 (GRCm39) D47G probably damaging Het
Ttn T C 2: 76,777,157 (GRCm39) Y1415C probably damaging Het
Vmn2r17 T A 5: 109,576,377 (GRCm39) F416Y probably benign Het
Vmn2r54 A G 7: 12,369,815 (GRCm39) S83P probably benign Het
Vtn A G 11: 78,390,422 (GRCm39) D53G possibly damaging Het
Wdr91 G A 6: 34,861,243 (GRCm39) P653L probably damaging Het
Ythdf1 G A 2: 180,553,285 (GRCm39) A283V probably benign Het
Zfp975 C A 7: 42,312,373 (GRCm39) W80L probably benign 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
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
R7434:Vwde UTSW 6 13,187,639 (GRCm39) missense probably benign 0.00
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'- ATGACGGGGATTCATGTAACTGGC -3'
(R):5'- GTGTACTCAGCAAGCAGATTCTCCTTT -3'

Sequencing Primer
(F):5'- GGCCACTGCACATATCAAAAG -3'
(R):5'- TCTCCTTTAAGAGTGAAGCCAGC -3'
Posted On 2014-05-23