Incidental Mutation 'IGL02330:Vwce'
ID 288627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwce
Ensembl Gene ENSMUSG00000043789
Gene Name von Willebrand factor C and EGF domains
Synonyms 1300015B04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02330
Quality Score
Status
Chromosome 19
Chromosomal Location 10611582-10643577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10624165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 352 (L352P)
Ref Sequence ENSEMBL: ENSMUSP00000056958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055115]
AlphaFold Q3U515
Predicted Effect possibly damaging
Transcript: ENSMUST00000055115
AA Change: L352P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: L352P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EGF 70 98 2.2e1 SMART
EGF_CA 142 180 6.91e-9 SMART
EGF_CA 181 219 7.75e-12 SMART
EGF_CA 220 262 1.11e-12 SMART
low complexity region 294 312 N/A INTRINSIC
low complexity region 335 353 N/A INTRINSIC
VWC 378 432 2.91e-6 SMART
VWC 435 488 4.58e-4 SMART
VWC 493 551 2.06e-6 SMART
VWC 560 617 9.74e-8 SMART
VWC 621 676 1.35e-10 SMART
VWC 679 725 2.58e-1 SMART
low complexity region 761 772 N/A INTRINSIC
low complexity region 889 903 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,325,398 (GRCm39) I352K probably benign Het
Atp8a1 T C 5: 67,970,520 (GRCm39) N73S probably damaging Het
Cilp T C 9: 65,181,804 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,169,328 (GRCm39) G500D possibly damaging Het
Cyp4a14 A C 4: 115,352,224 (GRCm39) probably benign Het
Dagla T G 19: 10,225,386 (GRCm39) D926A probably damaging Het
Ddr2 T A 1: 169,816,093 (GRCm39) Y538F probably damaging Het
Eng T A 2: 32,559,581 (GRCm39) probably null Het
Fbxo24 G T 5: 137,619,579 (GRCm39) L99M probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Foxp1 T C 6: 98,922,373 (GRCm39) N453D probably damaging Het
Fut8 A G 12: 77,497,017 (GRCm39) D409G probably damaging Het
Hmces A G 6: 87,891,517 (GRCm39) H8R probably damaging Het
Ing3 T C 6: 21,952,120 (GRCm39) C44R probably benign Het
Itga1 T A 13: 115,148,740 (GRCm39) I294F probably damaging Het
Mov10l1 T A 15: 88,910,693 (GRCm39) S976T probably damaging Het
Myo15a A G 11: 60,367,987 (GRCm39) Y249C possibly damaging Het
Nop56 T C 2: 130,118,686 (GRCm39) S273P probably damaging Het
Or10a48 A T 7: 108,425,206 (GRCm39) probably benign Het
Or1j21 C T 2: 36,683,907 (GRCm39) H220Y probably benign Het
Otog C T 7: 45,937,493 (GRCm39) S1734F possibly damaging Het
Phc3 T G 3: 30,990,530 (GRCm39) E562D probably damaging Het
Ralb A T 1: 119,399,450 (GRCm39) C203S probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Sf3b4 A T 3: 96,080,376 (GRCm39) T42S possibly damaging Het
Sgsm2 T C 11: 74,749,493 (GRCm39) T584A probably benign Het
Slco5a1 T C 1: 13,009,284 (GRCm39) K397R probably damaging Het
Trim30c A G 7: 104,032,165 (GRCm39) Y299H possibly damaging Het
Trip6 T C 5: 137,311,620 (GRCm39) D119G probably benign Het
Uap1 A T 1: 169,977,896 (GRCm39) I385N possibly damaging Het
Vmn1r123 T A 7: 20,896,969 (GRCm39) I287N probably damaging Het
Xrn1 T A 9: 95,855,401 (GRCm39) Y260* probably null Het
Zfp738 T C 13: 67,819,550 (GRCm39) Y147C probably damaging Het
Other mutations in Vwce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Vwce APN 19 10,641,875 (GRCm39) splice site probably null
IGL01358:Vwce APN 19 10,641,773 (GRCm39) missense possibly damaging 0.86
IGL02477:Vwce APN 19 10,641,982 (GRCm39) splice site probably null
IGL02551:Vwce APN 19 10,622,400 (GRCm39) missense possibly damaging 0.71
IGL02606:Vwce APN 19 10,632,712 (GRCm39) splice site probably benign
IGL02633:Vwce APN 19 10,625,858 (GRCm39) missense probably damaging 0.98
IGL02656:Vwce APN 19 10,641,716 (GRCm39) missense probably benign
IGL02884:Vwce APN 19 10,623,943 (GRCm39) missense possibly damaging 0.53
IGL02973:Vwce APN 19 10,632,764 (GRCm39) nonsense probably null
IGL03038:Vwce APN 19 10,624,035 (GRCm39) missense possibly damaging 0.86
IGL03329:Vwce APN 19 10,637,360 (GRCm39) missense possibly damaging 0.73
PIT4403001:Vwce UTSW 19 10,615,461 (GRCm39) missense possibly damaging 0.53
PIT4431001:Vwce UTSW 19 10,641,946 (GRCm39) missense possibly damaging 0.53
PIT4519001:Vwce UTSW 19 10,641,946 (GRCm39) missense possibly damaging 0.53
R0042:Vwce UTSW 19 10,624,177 (GRCm39) missense probably benign
R0081:Vwce UTSW 19 10,641,453 (GRCm39) critical splice acceptor site probably null
R0142:Vwce UTSW 19 10,641,976 (GRCm39) missense probably damaging 0.97
R0165:Vwce UTSW 19 10,637,337 (GRCm39) splice site probably benign
R0948:Vwce UTSW 19 10,630,441 (GRCm39) missense probably damaging 1.00
R1053:Vwce UTSW 19 10,641,463 (GRCm39) missense probably benign 0.18
R1505:Vwce UTSW 19 10,641,608 (GRCm39) missense probably benign
R1623:Vwce UTSW 19 10,624,108 (GRCm39) nonsense probably null
R1672:Vwce UTSW 19 10,630,459 (GRCm39) missense possibly damaging 0.92
R1882:Vwce UTSW 19 10,615,520 (GRCm39) missense possibly damaging 0.53
R3849:Vwce UTSW 19 10,624,269 (GRCm39) missense probably damaging 0.97
R4292:Vwce UTSW 19 10,636,996 (GRCm39) missense probably benign 0.00
R4293:Vwce UTSW 19 10,636,996 (GRCm39) missense probably benign 0.00
R4531:Vwce UTSW 19 10,641,710 (GRCm39) missense probably benign 0.01
R4678:Vwce UTSW 19 10,642,012 (GRCm39) missense possibly damaging 0.86
R4720:Vwce UTSW 19 10,625,831 (GRCm39) missense possibly damaging 0.85
R4737:Vwce UTSW 19 10,627,943 (GRCm39) missense probably benign 0.33
R4864:Vwce UTSW 19 10,628,000 (GRCm39) missense probably benign 0.01
R4916:Vwce UTSW 19 10,624,243 (GRCm39) missense probably damaging 0.98
R4939:Vwce UTSW 19 10,622,414 (GRCm39) missense probably damaging 0.98
R5605:Vwce UTSW 19 10,635,402 (GRCm39) missense possibly damaging 0.95
R5735:Vwce UTSW 19 10,624,431 (GRCm39) missense probably benign 0.08
R5780:Vwce UTSW 19 10,627,983 (GRCm39) missense probably damaging 1.00
R6158:Vwce UTSW 19 10,621,585 (GRCm39) missense possibly damaging 0.91
R6383:Vwce UTSW 19 10,636,956 (GRCm39) nonsense probably null
R6920:Vwce UTSW 19 10,642,057 (GRCm39) missense probably benign
R7201:Vwce UTSW 19 10,615,479 (GRCm39) missense possibly damaging 0.72
R7276:Vwce UTSW 19 10,641,538 (GRCm39) missense possibly damaging 0.53
R7423:Vwce UTSW 19 10,641,704 (GRCm39) missense probably benign 0.02
R7474:Vwce UTSW 19 10,624,305 (GRCm39) missense possibly damaging 0.93
R7843:Vwce UTSW 19 10,641,647 (GRCm39) missense probably benign 0.01
R8254:Vwce UTSW 19 10,627,938 (GRCm39) missense probably damaging 0.98
R8782:Vwce UTSW 19 10,615,491 (GRCm39) missense probably benign 0.33
R9154:Vwce UTSW 19 10,625,850 (GRCm39) missense possibly damaging 0.91
R9369:Vwce UTSW 19 10,624,061 (GRCm39) missense probably benign 0.04
R9458:Vwce UTSW 19 10,631,688 (GRCm39) missense possibly damaging 0.95
R9664:Vwce UTSW 19 10,615,481 (GRCm39) missense probably benign 0.33
RF020:Vwce UTSW 19 10,630,449 (GRCm39) missense probably damaging 1.00
X0018:Vwce UTSW 19 10,634,026 (GRCm39) missense possibly damaging 0.86
Z1177:Vwce UTSW 19 10,624,227 (GRCm39) missense possibly damaging 0.70
Posted On 2015-04-16