Incidental Mutation 'IGL02200:Ovch2'
ID284145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ovch2
Ensembl Gene ENSMUSG00000048236
Gene Nameovochymase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02200
Quality Score
Status
Chromosome7
Chromosomal Location107781544-107801208 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107794823 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 141 (Y141C)
Ref Sequence ENSEMBL: ENSMUSP00000102366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106755]
Predicted Effect probably damaging
Transcript: ENSMUST00000106755
AA Change: Y141C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: Y141C

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,069,014 E207G probably benign Het
Ahi1 T C 10: 20,981,314 probably benign Het
Ankrd26 A T 6: 118,559,341 V97E probably damaging Het
Cadps2 T C 6: 23,385,528 Y736C probably damaging Het
Cdon T C 9: 35,483,109 W884R probably benign Het
Cflar A G 1: 58,752,669 D380G probably damaging Het
Clca3a1 A T 3: 144,751,929 probably benign Het
Clca3b A G 3: 144,841,429 S316P probably damaging Het
Crispld1 T C 1: 17,750,333 probably benign Het
Diaph1 G A 18: 37,890,682 P701L unknown Het
Dip2b T C 15: 100,151,202 L159P possibly damaging Het
Dock1 A G 7: 134,744,271 T181A probably benign Het
Ear1 C T 14: 43,819,252 R53H probably benign Het
Gm1840 A G 8: 5,639,968 noncoding transcript Het
Gm2663 A G 6: 40,996,013 V220A probably benign Het
Grik1 A G 16: 87,940,565 F614L probably damaging Het
Htr2a T A 14: 74,706,165 I395N probably damaging Het
Itsn2 A G 12: 4,636,632 D528G probably damaging Het
Kdr T C 5: 75,950,102 probably benign Het
M6pr A G 6: 122,315,068 M120V probably benign Het
Mettl13 G A 1: 162,538,823 probably benign Het
Mtfmt A G 9: 65,448,781 probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Ogfrl1 C T 1: 23,370,069 V359I probably benign Het
Olfr583 C T 7: 103,051,793 T165I probably benign Het
Pwwp2a A C 11: 43,706,128 I432L possibly damaging Het
Ryr3 C T 2: 112,849,510 V1245M probably damaging Het
Sis T C 3: 72,943,604 H587R probably damaging Het
Snrnp40 A G 4: 130,360,221 K6E probably damaging Het
Snx13 A T 12: 35,086,885 D115V probably damaging Het
Sohlh2 C A 3: 55,190,556 T143K probably damaging Het
Spag4 T C 2: 156,066,597 L55S probably benign Het
Tcrg-C2 T C 13: 19,307,351 probably benign Het
Vmn2r77 T C 7: 86,801,979 S358P probably benign Het
Other mutations in Ovch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Ovch2 APN 7 107789090 missense probably null 1.00
IGL02198:Ovch2 APN 7 107794834 missense probably damaging 0.99
IGL02442:Ovch2 APN 7 107796548 missense possibly damaging 0.90
IGL02531:Ovch2 APN 7 107790198 missense probably damaging 1.00
IGL02862:Ovch2 APN 7 107794931 missense probably damaging 1.00
R0401:Ovch2 UTSW 7 107801136 missense probably damaging 0.98
R0413:Ovch2 UTSW 7 107782036 missense probably benign
R0631:Ovch2 UTSW 7 107782021 missense probably benign 0.01
R1028:Ovch2 UTSW 7 107796548 missense probably benign 0.37
R1329:Ovch2 UTSW 7 107785446 missense probably damaging 1.00
R1809:Ovch2 UTSW 7 107790205 critical splice acceptor site probably null
R2254:Ovch2 UTSW 7 107790195 missense probably benign 0.02
R2265:Ovch2 UTSW 7 107784575 missense probably damaging 1.00
R2358:Ovch2 UTSW 7 107794915 missense probably damaging 1.00
R2922:Ovch2 UTSW 7 107790389 missense possibly damaging 0.88
R2923:Ovch2 UTSW 7 107790389 missense possibly damaging 0.88
R3034:Ovch2 UTSW 7 107785492 missense probably damaging 1.00
R3885:Ovch2 UTSW 7 107796568 missense probably damaging 1.00
R3957:Ovch2 UTSW 7 107789111 missense probably damaging 0.99
R4687:Ovch2 UTSW 7 107796548 missense possibly damaging 0.90
R5307:Ovch2 UTSW 7 107792134 missense probably benign 0.26
R5353:Ovch2 UTSW 7 107794424 missense probably damaging 0.98
R5688:Ovch2 UTSW 7 107793994 missense probably damaging 1.00
R5730:Ovch2 UTSW 7 107793399 missense probably damaging 1.00
R5767:Ovch2 UTSW 7 107781978 missense probably benign
R5979:Ovch2 UTSW 7 107794388 missense possibly damaging 0.94
R6039:Ovch2 UTSW 7 107789111 missense probably damaging 0.99
R6039:Ovch2 UTSW 7 107789111 missense probably damaging 0.99
R6064:Ovch2 UTSW 7 107796572 missense probably damaging 0.98
R6247:Ovch2 UTSW 7 107785441 missense probably damaging 1.00
R6638:Ovch2 UTSW 7 107789094 missense probably benign 0.17
R6877:Ovch2 UTSW 7 107790108 missense probably benign 0.25
R7040:Ovch2 UTSW 7 107796565 missense probably damaging 1.00
R7257:Ovch2 UTSW 7 107794433 missense probably damaging 1.00
R7282:Ovch2 UTSW 7 107794370 missense possibly damaging 0.94
R7824:Ovch2 UTSW 7 107789088 critical splice donor site probably null
R7841:Ovch2 UTSW 7 107794091 missense probably benign 0.01
R7908:Ovch2 UTSW 7 107789119 missense probably damaging 1.00
R8427:Ovch2 UTSW 7 107794000 missense probably damaging 1.00
R8745:Ovch2 UTSW 7 107790377 missense possibly damaging 0.93
R8812:Ovch2 UTSW 7 107793255 missense probably damaging 1.00
R8812:Ovch2 UTSW 7 107794044 nonsense probably null
Posted On2015-04-16