Incidental Mutation 'IGL02198:Ovch2'
ID 284119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ovch2
Ensembl Gene ENSMUSG00000048236
Gene Name ovochymase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02198
Quality Score
Status
Chromosome 7
Chromosomal Location 107781544-107801208 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107794834 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 137 (K137N)
Ref Sequence ENSEMBL: ENSMUSP00000102366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106755]
AlphaFold Q7M761
Predicted Effect probably damaging
Transcript: ENSMUST00000106755
AA Change: K137N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: K137N

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,546,492 I381T probably damaging Het
Armt1 T A 10: 4,454,064 F383Y possibly damaging Het
Cdca2 A G 14: 67,694,996 V486A probably benign Het
Cep78 A G 19: 15,956,369 L615S probably damaging Het
Clec2h C A 6: 128,674,016 C86* probably null Het
Cntnap5a C T 1: 116,580,532 T1258I probably benign Het
Dhrs7c T A 11: 67,815,802 M262K possibly damaging Het
Dmpk C A 7: 19,088,192 F332L probably damaging Het
Dyx1c1 G A 9: 72,969,066 V308I probably benign Het
Fap A G 2: 62,554,798 F73L probably benign Het
Igsf10 A T 3: 59,325,978 I1778N possibly damaging Het
Il6ra T C 3: 89,890,348 T71A probably benign Het
Itpr2 C A 6: 146,323,227 A1389S probably damaging Het
Mob3b T C 4: 35,083,983 N69D probably damaging Het
Nr1h3 A G 2: 91,192,725 W21R probably damaging Het
Olfr1305 A T 2: 111,873,248 N202K probably damaging Het
Ovca2 A G 11: 75,178,770 V9A possibly damaging Het
Pabpc1l A G 2: 164,027,616 N112S probably damaging Het
Plekho1 T A 3: 95,992,184 N99I probably damaging Het
Recql5 A C 11: 115,894,673 S666A probably benign Het
Scn3a G T 2: 65,508,489 H615Q probably benign Het
Sel1l3 A G 5: 53,139,799 probably benign Het
Slc38a2 A T 15: 96,692,377 S328T probably damaging Het
Taok1 T C 11: 77,575,677 probably benign Het
Tsnax T A 8: 125,032,712 Y237* probably null Het
Ttn T A 2: 76,714,630 K24382N probably damaging Het
Ugt1a9 T A 1: 88,071,443 V205E possibly damaging Het
Unc80 C A 1: 66,529,986 D933E possibly damaging Het
Vnn1 A T 10: 23,903,425 T411S probably benign Het
Wdr27 C A 17: 14,908,598 G531V possibly damaging Het
Zfp760 G T 17: 21,722,212 V123L probably benign Het
Other mutations in Ovch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Ovch2 APN 7 107789090 missense probably null 1.00
IGL02200:Ovch2 APN 7 107794823 missense probably damaging 1.00
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
R9250:Ovch2 UTSW 7 107793335 missense probably damaging 1.00
R9301:Ovch2 UTSW 7 107796608 missense probably damaging 1.00
R9308:Ovch2 UTSW 7 107790353 missense probably benign 0.03
R9703:Ovch2 UTSW 7 107784570 missense probably damaging 1.00
R9717:Ovch2 UTSW 7 107794377 missense probably damaging 1.00
Posted On 2015-04-16