Incidental Mutation 'IGL02973:Vwce'
ID365887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwce
Ensembl Gene ENSMUSG00000043789
Gene Namevon Willebrand factor C and EGF domains
Synonyms1300015B04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02973
Quality Score
Status
Chromosome19
Chromosomal Location10634233-10665210 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 10655400 bp
ZygosityHeterozygous
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]
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: 163,731,133 L193P probably benign Het
Ago2 A T 15: 73,123,465 probably benign Het
Ankrd26 A G 6: 118,523,550 S987P probably damaging Het
Ap2a2 T C 7: 141,631,364 F938L possibly damaging Het
Arhgap35 A G 7: 16,562,878 V754A possibly damaging Het
Atp10b A T 11: 43,197,509 N314I probably damaging Het
Atp5a1 T C 18: 77,780,149 V291A probably damaging Het
Ccm2 C A 11: 6,584,544 P19T probably damaging Het
Cdc5l C A 17: 45,404,647 A680S probably benign Het
Cds1 A G 5: 101,812,510 T276A probably damaging Het
Cit A G 5: 116,005,999 R1976G possibly damaging Het
Col6a5 T C 9: 105,925,821 D1315G unknown Het
Emilin1 T G 5: 30,920,663 L922R probably damaging Het
Fank1 T C 7: 133,876,849 L213P probably damaging Het
Foxc2 T C 8: 121,118,049 S479P probably benign Het
Gm14548 T C 7: 3,897,240 Y121C probably damaging Het
Golgb1 G A 16: 36,912,080 R563H possibly damaging Het
Hoxb13 A G 11: 96,194,843 Y134C probably damaging Het
Krtap4-16 A T 11: 99,851,341 C78S possibly damaging Het
Lars C T 18: 42,214,759 probably null Het
Lipe T C 7: 25,383,632 N740S probably damaging Het
Mbd1 C T 18: 74,275,427 probably benign Het
Mbd5 A G 2: 49,313,709 D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 Y338H probably damaging Het
Pdgfrl A G 8: 40,985,594 D189G probably damaging Het
Plxnc1 T C 10: 94,810,684 N1293S probably damaging Het
Ppm1e C A 11: 87,240,662 A302S probably damaging Het
Rassf8 A G 6: 145,817,190 probably benign Het
Rttn T C 18: 88,972,494 W52R probably damaging Het
Skint8 T C 4: 111,939,593 V298A probably benign Het
Tulp1 A T 17: 28,358,542 probably benign Het
Unc5c T A 3: 141,788,890 D321E probably benign Het
Usp16 G A 16: 87,479,739 C654Y probably damaging Het
Wdr89 T G 12: 75,633,099 D127A probably damaging Het
Zc3h6 G A 2: 128,997,795 R176Q probably damaging Het
Zfp942 A G 17: 21,932,991 probably null Het
Other mutations in Vwce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Vwce APN 19 10664511 splice site probably null
IGL01358:Vwce APN 19 10664409 missense possibly damaging 0.86
IGL02330:Vwce APN 19 10646801 missense possibly damaging 0.96
IGL02477:Vwce APN 19 10664618 splice site probably null
IGL02551:Vwce APN 19 10645036 missense possibly damaging 0.71
IGL02606:Vwce APN 19 10655348 splice site probably benign
IGL02633:Vwce APN 19 10648494 missense probably damaging 0.98
IGL02656:Vwce APN 19 10664352 missense probably benign
IGL02884:Vwce APN 19 10646579 missense possibly damaging 0.53
IGL03038:Vwce APN 19 10646671 missense possibly damaging 0.86
IGL03329:Vwce APN 19 10659996 missense possibly damaging 0.73
PIT4403001:Vwce UTSW 19 10638097 missense possibly damaging 0.53
PIT4431001:Vwce UTSW 19 10664582 missense possibly damaging 0.53
PIT4519001:Vwce UTSW 19 10664582 missense possibly damaging 0.53
R0042:Vwce UTSW 19 10646813 missense probably benign
R0081:Vwce UTSW 19 10664089 critical splice acceptor site probably null
R0142:Vwce UTSW 19 10664612 missense probably damaging 0.97
R0165:Vwce UTSW 19 10659973 splice site probably benign
R0948:Vwce UTSW 19 10653077 missense probably damaging 1.00
R1053:Vwce UTSW 19 10664099 missense probably benign 0.18
R1505:Vwce UTSW 19 10664244 missense probably benign
R1623:Vwce UTSW 19 10646744 nonsense probably null
R1672:Vwce UTSW 19 10653095 missense possibly damaging 0.92
R1882:Vwce UTSW 19 10638156 missense possibly damaging 0.53
R3849:Vwce UTSW 19 10646905 missense probably damaging 0.97
R4292:Vwce UTSW 19 10659632 missense probably benign 0.00
R4293:Vwce UTSW 19 10659632 missense probably benign 0.00
R4531:Vwce UTSW 19 10664346 missense probably benign 0.01
R4678:Vwce UTSW 19 10664648 missense possibly damaging 0.86
R4720:Vwce UTSW 19 10648467 missense possibly damaging 0.85
R4737:Vwce UTSW 19 10650579 missense probably benign 0.33
R4864:Vwce UTSW 19 10650636 missense probably benign 0.01
R4916:Vwce UTSW 19 10646879 missense probably damaging 0.98
R4939:Vwce UTSW 19 10645050 missense probably damaging 0.98
R5605:Vwce UTSW 19 10658038 missense possibly damaging 0.95
R5735:Vwce UTSW 19 10647067 missense probably benign 0.08
R5780:Vwce UTSW 19 10650619 missense probably damaging 1.00
R6158:Vwce UTSW 19 10644221 missense possibly damaging 0.91
R6383:Vwce UTSW 19 10659592 nonsense probably null
R6920:Vwce UTSW 19 10664693 missense probably benign
R7201:Vwce UTSW 19 10638115 missense possibly damaging 0.72
R7276:Vwce UTSW 19 10664174 missense possibly damaging 0.53
R7423:Vwce UTSW 19 10664340 missense probably benign 0.02
R7474:Vwce UTSW 19 10646941 missense possibly damaging 0.93
R7843:Vwce UTSW 19 10664283 missense probably benign 0.01
R8254:Vwce UTSW 19 10650574 missense probably damaging 0.98
R8782:Vwce UTSW 19 10638127 missense probably benign 0.33
RF020:Vwce UTSW 19 10653085 missense probably damaging 1.00
X0018:Vwce UTSW 19 10656662 missense possibly damaging 0.86
Z1177:Vwce UTSW 19 10646863 missense possibly damaging 0.70
Posted On2015-12-18