Incidental Mutation 'IGL02973:Vwce'
ID 365887
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 # IGL02973
Quality Score
Status
Chromosome 19
Chromosomal Location 10611582-10643577 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 10632764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 575 (W575*)
Ref Sequence ENSEMBL: ENSMUSP00000056958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055115]
AlphaFold Q3U515
Predicted Effect probably null
Transcript: ENSMUST00000055115
AA Change: W575*
SMART Domains Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: W575*

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null 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
IGL02330:Vwce APN 19 10,624,165 (GRCm39) missense possibly damaging 0.96
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
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 2015-12-18