Incidental Mutation 'IGL01824:Abhd17c'
ID154621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd17c
Ensembl Gene ENSMUSG00000038459
Gene Nameabhydrolase domain containing 17C
Synonyms2210412D01Rik, Fam108c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01824
Quality Score
Status
Chromosome7
Chromosomal Location84109356-84151893 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84151289 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 186 (R186C)
Ref Sequence ENSEMBL: ENSMUSP00000112988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117085]
Predicted Effect probably benign
Transcript: ENSMUST00000117085
AA Change: R186C

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000112988
Gene: ENSMUSG00000038459
AA Change: R186C

DomainStartEndE-ValueType
low complexity region 46 77 N/A INTRINSIC
Pfam:Hydrolase_4 120 240 8.7e-9 PFAM
Pfam:Abhydrolase_5 125 297 2.8e-30 PFAM
Pfam:DLH 162 297 4.7e-7 PFAM
Pfam:Peptidase_S9 167 317 2.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208271
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,651,727 V1196A probably benign Het
Asah1 A T 8: 41,349,543 probably benign Het
Chrm1 T C 19: 8,679,130 W400R probably damaging Het
Cyp27a1 G T 1: 74,735,881 E290* probably null Het
Dnah7a T C 1: 53,504,270 D2247G probably benign Het
Gins4 G A 8: 23,234,768 Q57* probably null Het
Gli1 T C 10: 127,336,527 D219G probably benign Het
Greb1 A T 12: 16,711,716 C554* probably null Het
Gtf2ird2 T C 5: 134,197,282 probably benign Het
Ifna15 T C 4: 88,557,783 R155G probably benign Het
Lck T A 4: 129,558,146 M14L probably benign Het
Megf6 A G 4: 154,252,234 D322G probably damaging Het
Olfr1272 T A 2: 90,281,919 I219F probably damaging Het
Pcdh18 A T 3: 49,754,774 D697E probably damaging Het
Pnp C T 14: 50,951,413 T221I probably damaging Het
Ppl A G 16: 5,087,889 I1514T probably damaging Het
Scnn1g A G 7: 121,766,293 M523V probably benign Het
Sema4c A G 1: 36,553,029 Y246H possibly damaging Het
Slco1a5 T A 6: 142,253,037 I301F probably benign Het
Srebf1 A G 11: 60,204,131 S446P probably benign Het
Sys1 T G 2: 164,463,305 L56R probably damaging Het
Trpc7 G T 13: 56,789,722 Y585* probably null Het
Vmn2r110 T A 17: 20,574,667 Y580F probably benign Het
Zmym6 G T 4: 127,108,706 V485F probably damaging Het
Other mutations in Abhd17c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Abhd17c APN 7 84151414 missense possibly damaging 0.93
IGL02835:Abhd17c UTSW 7 84151523 missense probably benign 0.00
R2127:Abhd17c UTSW 7 84110662 missense probably damaging 1.00
R2151:Abhd17c UTSW 7 84151455 missense probably damaging 1.00
R2495:Abhd17c UTSW 7 84110676 nonsense probably null
R5111:Abhd17c UTSW 7 84151438 nonsense probably null
Posted On2014-02-04