Incidental Mutation 'R5791:Vwde'
ID 446969
Institutional Source Beutler Lab
Gene Symbol Vwde
Ensembl Gene ENSMUSG00000079679
Gene Name von Willebrand factor D and EGF domains
Synonyms LOC232585
MMRRC Submission 043207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 13156439-13224964 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 13195985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 347 (E347*)
Ref Sequence ENSEMBL: ENSMUSP00000145311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054530] [ENSMUST00000203074]
AlphaFold Q6DFV8
Predicted Effect probably null
Transcript: ENSMUST00000054530
AA Change: E347*
SMART Domains Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: E347*

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 null
Transcript: ENSMUST00000203074
AA Change: E347*
SMART Domains Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: E347*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204339
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown 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
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'- TCCGCGCAACCTTGTATCAG -3'
(R):5'- CTAAGCAAAAGATAGCCTACTGGGG -3'

Sequencing Primer
(F):5'- GGACTCTCTGGAAAACAGA -3'
(R):5'- TAGCCTACTGGGGTAACAAAAAC -3'
Posted On 2016-12-15