Incidental Mutation 'IGL02442:Ovch2'
ID 293474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ovch2
Ensembl Gene ENSMUSG00000048236
Gene Name ovochymase 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02442
Quality Score
Status
Chromosome 7
Chromosomal Location 107781544-107801208 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107796548 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 88 (I88F)
Ref Sequence ENSEMBL: ENSMUSP00000102366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106755]
AlphaFold Q7M761
Predicted Effect possibly damaging
Transcript: ENSMUST00000106755
AA Change: I88F

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Tryp_SPc 51 294 6.58e-93 SMART
CUB 314 421 1.68e-17 SMART
CUB 431 543 5.02e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 (GRCm38) V116A probably benign Het
Adap2 A G 11: 80,177,206 (GRCm38) E348G probably damaging Het
Ahnak G A 19: 9,004,016 (GRCm38) G888D probably damaging Het
Cdc45 C T 16: 18,798,729 (GRCm38) M200I probably benign Het
Csde1 T C 3: 103,054,819 (GRCm38) C649R probably benign Het
Cym A C 3: 107,214,285 (GRCm38) D230E probably damaging Het
Dnah1 A T 14: 31,287,878 (GRCm38) I1911N probably damaging Het
Fam60a A T 6: 148,928,507 (GRCm38) probably null Het
Fat1 A G 8: 44,950,323 (GRCm38) H37R probably benign Het
Ggt6 T C 11: 72,436,806 (GRCm38) V146A possibly damaging Het
Glud1 T A 14: 34,335,438 (GRCm38) L54* probably null Het
Grk6 A G 13: 55,458,937 (GRCm38) probably benign Het
Gsta4 G A 9: 78,209,165 (GRCm38) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm38) V620M probably damaging Het
Hspe1 T C 1: 55,089,042 (GRCm38) probably benign Het
Icmt T C 4: 152,298,716 (GRCm38) V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 (GRCm38) probably benign Het
Lgals12 T C 19: 7,606,654 (GRCm38) probably benign Het
Lypla1 T C 1: 4,832,387 (GRCm38) probably benign Het
Map1b A T 13: 99,508,198 (GRCm38) W66R probably damaging Het
Matn3 T A 12: 8,967,678 (GRCm38) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm38) R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 (GRCm38) K140R probably benign Het
Ndfip1 C T 18: 38,447,736 (GRCm38) S66L probably damaging Het
Neu1 A G 17: 34,934,469 (GRCm38) I323V probably benign Het
Nup205 A T 6: 35,190,068 (GRCm38) T341S probably benign Het
Olfr1303 G A 2: 111,813,991 (GRCm38) T245I probably benign Het
Olfr1466 T A 19: 13,342,120 (GRCm38) C121S probably benign Het
Olfr1469 T A 19: 13,410,987 (GRCm38) N139K probably benign Het
Pkd1 T A 17: 24,565,226 (GRCm38) S249T probably benign Het
Plekhg3 A T 12: 76,578,353 (GRCm38) Q1324L probably benign Het
Ppara T A 15: 85,801,143 (GRCm38) V431E probably benign Het
Prkaa1 T G 15: 5,176,888 (GRCm38) H408Q probably damaging Het
Sap25 T A 5: 137,641,995 (GRCm38) N108K probably benign Het
Setd5 A C 6: 113,110,380 (GRCm38) I81L possibly damaging Het
Sri T A 5: 8,062,411 (GRCm38) M78K probably damaging Het
Tyro3 A G 2: 119,808,868 (GRCm38) N352S probably benign Het
Ubr5 T A 15: 38,037,901 (GRCm38) E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 (GRCm38) V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 (GRCm38) V721D probably damaging Het
Vwa5a A G 9: 38,734,784 (GRCm38) M483V probably benign Het
Zfp786 T A 6: 47,821,367 (GRCm38) Q212H probably benign Het
Other mutations in Ovch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Ovch2 APN 7 107,789,090 (GRCm38) missense probably null 1.00
IGL02198:Ovch2 APN 7 107,794,834 (GRCm38) missense probably damaging 0.99
IGL02200:Ovch2 APN 7 107,794,823 (GRCm38) missense probably damaging 1.00
IGL02531:Ovch2 APN 7 107,790,198 (GRCm38) missense probably damaging 1.00
IGL02862:Ovch2 APN 7 107,794,931 (GRCm38) missense probably damaging 1.00
R0401:Ovch2 UTSW 7 107,801,136 (GRCm38) missense probably damaging 0.98
R0413:Ovch2 UTSW 7 107,782,036 (GRCm38) missense probably benign
R0631:Ovch2 UTSW 7 107,782,021 (GRCm38) missense probably benign 0.01
R1028:Ovch2 UTSW 7 107,796,548 (GRCm38) missense probably benign 0.37
R1329:Ovch2 UTSW 7 107,785,446 (GRCm38) missense probably damaging 1.00
R1809:Ovch2 UTSW 7 107,790,205 (GRCm38) critical splice acceptor site probably null
R2254:Ovch2 UTSW 7 107,790,195 (GRCm38) missense probably benign 0.02
R2265:Ovch2 UTSW 7 107,784,575 (GRCm38) missense probably damaging 1.00
R2358:Ovch2 UTSW 7 107,794,915 (GRCm38) missense probably damaging 1.00
R2922:Ovch2 UTSW 7 107,790,389 (GRCm38) missense possibly damaging 0.88
R2923:Ovch2 UTSW 7 107,790,389 (GRCm38) missense possibly damaging 0.88
R3034:Ovch2 UTSW 7 107,785,492 (GRCm38) missense probably damaging 1.00
R3885:Ovch2 UTSW 7 107,796,568 (GRCm38) missense probably damaging 1.00
R3957:Ovch2 UTSW 7 107,789,111 (GRCm38) missense probably damaging 0.99
R4687:Ovch2 UTSW 7 107,796,548 (GRCm38) missense possibly damaging 0.90
R5307:Ovch2 UTSW 7 107,792,134 (GRCm38) missense probably benign 0.26
R5353:Ovch2 UTSW 7 107,794,424 (GRCm38) missense probably damaging 0.98
R5688:Ovch2 UTSW 7 107,793,994 (GRCm38) missense probably damaging 1.00
R5730:Ovch2 UTSW 7 107,793,399 (GRCm38) missense probably damaging 1.00
R5767:Ovch2 UTSW 7 107,781,978 (GRCm38) missense probably benign
R5979:Ovch2 UTSW 7 107,794,388 (GRCm38) missense possibly damaging 0.94
R6039:Ovch2 UTSW 7 107,789,111 (GRCm38) missense probably damaging 0.99
R6039:Ovch2 UTSW 7 107,789,111 (GRCm38) missense probably damaging 0.99
R6064:Ovch2 UTSW 7 107,796,572 (GRCm38) missense probably damaging 0.98
R6247:Ovch2 UTSW 7 107,785,441 (GRCm38) missense probably damaging 1.00
R6638:Ovch2 UTSW 7 107,789,094 (GRCm38) missense probably benign 0.17
R6877:Ovch2 UTSW 7 107,790,108 (GRCm38) missense probably benign 0.25
R7040:Ovch2 UTSW 7 107,796,565 (GRCm38) missense probably damaging 1.00
R7257:Ovch2 UTSW 7 107,794,433 (GRCm38) missense probably damaging 1.00
R7282:Ovch2 UTSW 7 107,794,370 (GRCm38) missense possibly damaging 0.94
R7824:Ovch2 UTSW 7 107,789,088 (GRCm38) critical splice donor site probably null
R7841:Ovch2 UTSW 7 107,794,091 (GRCm38) missense probably benign 0.01
R7908:Ovch2 UTSW 7 107,789,119 (GRCm38) missense probably damaging 1.00
R8427:Ovch2 UTSW 7 107,794,000 (GRCm38) missense probably damaging 1.00
R8745:Ovch2 UTSW 7 107,790,377 (GRCm38) missense possibly damaging 0.93
R8812:Ovch2 UTSW 7 107,794,044 (GRCm38) nonsense probably null
R8812:Ovch2 UTSW 7 107,793,255 (GRCm38) missense probably damaging 1.00
R9250:Ovch2 UTSW 7 107,793,335 (GRCm38) missense probably damaging 1.00
R9301:Ovch2 UTSW 7 107,796,608 (GRCm38) missense probably damaging 1.00
R9308:Ovch2 UTSW 7 107,790,353 (GRCm38) missense probably benign 0.03
R9703:Ovch2 UTSW 7 107,784,570 (GRCm38) missense probably damaging 1.00
R9717:Ovch2 UTSW 7 107,794,377 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16