Incidental Mutation 'IGL02656:Vwce'
ID 302333
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: 0.060) question?
Stock # IGL02656
Quality Score
Status
Chromosome 19
Chromosomal Location 10611582-10643577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10641716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 814 (I814K)
Ref Sequence ENSEMBL: ENSMUSP00000056958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025647] [ENSMUST00000055115]
AlphaFold Q3U515
Predicted Effect probably benign
Transcript: ENSMUST00000025647
SMART Domains Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738

DomainStartEndE-ValueType
Pfam:A1_Propeptide 16 44 1.1e-13 PFAM
Pfam:Asp 73 386 1.1e-112 PFAM
Pfam:TAXi_N 74 229 7.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055115
AA Change: I814K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: I814K

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,424,197 (GRCm39) A981D possibly damaging Het
Ccdc69 G T 11: 54,943,263 (GRCm39) Q114K possibly damaging Het
Cct5 A T 15: 31,597,576 (GRCm39) D66E probably damaging Het
Ces2e G T 8: 105,653,688 (GRCm39) R42I possibly damaging Het
Cib2 T G 9: 54,453,182 (GRCm39) D178A probably damaging Het
Cldn7 G A 11: 69,857,834 (GRCm39) V97I probably benign Het
Dok3 A T 13: 55,676,293 (GRCm39) I12N probably damaging Het
Fndc5 T A 4: 129,033,239 (GRCm39) V102E probably damaging Het
Gas2 T C 7: 51,593,492 (GRCm39) S191P probably benign Het
Herc6 T A 6: 57,588,821 (GRCm39) probably null Het
Krt18 A G 15: 101,939,357 (GRCm39) T277A probably benign Het
Mpp3 A G 11: 101,899,427 (GRCm39) S365P probably benign Het
Msmo1 T C 8: 65,180,906 (GRCm39) T3A probably benign Het
Or1e34 A G 11: 73,778,865 (GRCm39) F111S probably damaging Het
Or4e2 G T 14: 52,688,166 (GRCm39) A99S possibly damaging Het
Or8g18 T A 9: 39,149,456 (GRCm39) E88V probably benign Het
Pex19 C A 1: 171,958,252 (GRCm39) A77E probably benign Het
Phf20l1 A G 15: 66,501,676 (GRCm39) D620G probably damaging Het
Prr5 A G 15: 84,583,337 (GRCm39) D105G probably damaging Het
Rab12 T A 17: 66,813,049 (GRCm39) K88M probably damaging Het
Rictor T C 15: 6,806,401 (GRCm39) V673A probably damaging Het
Rps26 A G 10: 128,461,126 (GRCm39) S88P possibly damaging Het
Sema5a T A 15: 32,631,431 (GRCm39) S605T possibly damaging Het
Slc35a4 T C 18: 36,815,500 (GRCm39) M110T probably damaging Het
Sowahb T C 5: 93,191,106 (GRCm39) S538G probably benign Het
Srrt T A 5: 137,297,938 (GRCm39) probably benign Het
Ssbp2 G A 13: 91,817,871 (GRCm39) probably benign Het
Supt20 C T 3: 54,615,816 (GRCm39) R236W probably damaging Het
Tenm4 A G 7: 96,534,640 (GRCm39) D1791G probably damaging Het
Tgm6 G A 2: 129,987,023 (GRCm39) G497D probably damaging Het
Trim12c C T 7: 103,990,410 (GRCm39) V356I 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
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
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