Incidental Mutation 'IGL02606:Vwce'
ID 300300
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 # IGL02606
Quality Score
Status
Chromosome 19
Chromosomal Location 10611582-10643577 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 10632712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055115]
AlphaFold Q3U515
Predicted Effect probably benign
Transcript: ENSMUST00000055115
SMART Domains Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,099,978 (GRCm39) N74I probably benign Het
Abr T C 11: 76,369,990 (GRCm39) K75R probably damaging Het
Adcy10 A C 1: 165,347,087 (GRCm39) D368A possibly damaging Het
Alas1 A G 9: 106,118,309 (GRCm39) probably benign Het
Alms1 T A 6: 85,576,949 (GRCm39) D168E probably benign Het
Ankar C T 1: 72,729,444 (GRCm39) A82T possibly damaging Het
Atp2c2 C T 8: 120,457,013 (GRCm39) T205I probably benign Het
Atp9a A T 2: 168,494,588 (GRCm39) L639Q probably damaging Het
Btf3l4 T C 4: 108,675,411 (GRCm39) D134G probably benign Het
Cacna1s T C 1: 136,007,257 (GRCm39) C425R probably damaging Het
Cct6b G T 11: 82,627,271 (GRCm39) T322N probably damaging Het
Col19a1 G A 1: 24,573,197 (GRCm39) R192* probably null Het
Cyp8b1 A T 9: 121,744,801 (GRCm39) F177Y probably damaging Het
Dnajc11 T A 4: 152,063,941 (GRCm39) N474K probably benign Het
Dusp16 T C 6: 134,737,999 (GRCm39) E13G probably damaging Het
Ephx2 T C 14: 66,323,741 (GRCm39) N397S probably damaging Het
Fancm T C 12: 65,122,913 (GRCm39) V145A possibly damaging Het
Fiz1 A G 7: 5,012,158 (GRCm39) L120P possibly damaging Het
Galnt6 C T 15: 100,612,100 (GRCm39) V181M probably damaging Het
Ginm1 A G 10: 7,646,163 (GRCm39) V279A probably damaging Het
Gja10 T G 4: 32,601,509 (GRCm39) I292L probably benign Het
Gnb3 T C 6: 124,814,378 (GRCm39) S136G probably benign Het
Gramd1a A T 7: 30,833,940 (GRCm39) V495E probably damaging Het
Il1rn G T 2: 24,235,462 (GRCm39) probably benign Het
Itpr3 A G 17: 27,333,486 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,937 (GRCm39) S229P possibly damaging Het
Kdm4a T C 4: 118,017,486 (GRCm39) T527A probably benign Het
Kif14 C T 1: 136,424,331 (GRCm39) A982V probably damaging Het
Klf6 A G 13: 5,916,734 (GRCm39) K293R probably damaging Het
Letmd1 A G 15: 100,372,972 (GRCm39) D92G probably damaging Het
Lmod1 G A 1: 135,292,218 (GRCm39) V358M probably benign Het
Ndufs1 A T 1: 63,199,011 (GRCm39) D295E probably damaging Het
Nek4 A G 14: 30,685,916 (GRCm39) N283S probably benign Het
Nhsl1 A G 10: 18,387,385 (GRCm39) T220A probably damaging Het
Nucks1 T A 1: 131,852,363 (GRCm39) D71E probably damaging Het
Or4n4 T C 14: 50,519,530 (GRCm39) Y60C probably damaging Het
Or8g18 C A 9: 39,149,490 (GRCm39) V77F probably damaging Het
Pkhd1l1 A G 15: 44,452,852 (GRCm39) T3926A probably benign Het
Pptc7 T A 5: 122,451,651 (GRCm39) probably benign Het
Prdm11 A G 2: 92,805,948 (GRCm39) V334A probably benign Het
Ptdss2 C A 7: 140,732,911 (GRCm39) C231* probably null Het
R3hdm1 C T 1: 128,118,456 (GRCm39) P570S probably benign Het
Rlbp1 T C 7: 79,027,037 (GRCm39) T208A possibly damaging Het
Rnaseh2a T G 8: 85,686,723 (GRCm39) D142A probably damaging Het
Rufy4 C T 1: 74,172,509 (GRCm39) probably benign Het
Tektl1 A G 10: 78,584,300 (GRCm39) Y372H probably benign Het
Tlcd4 G T 3: 121,022,013 (GRCm39) D128E possibly damaging Het
Ttn A G 2: 76,646,565 (GRCm39) I11081T possibly damaging Het
Ubap2l A T 3: 89,945,735 (GRCm39) S173R probably damaging Het
Vmn1r80 A G 7: 11,926,959 (GRCm39) N23S 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
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