Incidental Mutation 'IGL01824:Abhd17c'
ID 154621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd17c
Ensembl Gene ENSMUSG00000038459
Gene Name abhydrolase domain containing 17C
Synonyms 2210412D01Rik, Fam108c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01824
Quality Score
Chromosome 7
Chromosomal Location 83758564-83801101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83800497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 186 (R186C)
Ref Sequence ENSEMBL: ENSMUSP00000112988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117085]
AlphaFold Q8VCV1
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

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: 72,690,886 (GRCm39) V1196A probably benign Het
Asah1 A T 8: 41,802,580 (GRCm39) probably benign Het
Chrm1 T C 19: 8,656,494 (GRCm39) W400R probably damaging Het
Cyp27a1 G T 1: 74,775,040 (GRCm39) E290* probably null Het
Dnah7a T C 1: 53,543,429 (GRCm39) D2247G probably benign Het
Gins4 G A 8: 23,724,784 (GRCm39) Q57* probably null Het
Gli1 T C 10: 127,172,396 (GRCm39) D219G probably benign Het
Greb1 A T 12: 16,761,717 (GRCm39) C554* probably null Het
Gtf2ird2 T C 5: 134,226,123 (GRCm39) probably benign Het
Ifna15 T C 4: 88,476,020 (GRCm39) R155G probably benign Het
Lck T A 4: 129,451,939 (GRCm39) M14L probably benign Het
Megf6 A G 4: 154,336,691 (GRCm39) D322G probably damaging Het
Or4b1b T A 2: 90,112,263 (GRCm39) I219F probably damaging Het
Pcdh18 A T 3: 49,709,223 (GRCm39) D697E probably damaging Het
Pnp C T 14: 51,188,870 (GRCm39) T221I probably damaging Het
Ppl A G 16: 4,905,753 (GRCm39) I1514T probably damaging Het
Scnn1g A G 7: 121,365,516 (GRCm39) M523V probably benign Het
Sema4c A G 1: 36,592,110 (GRCm39) Y246H possibly damaging Het
Slco1a5 T A 6: 142,198,763 (GRCm39) I301F probably benign Het
Srebf1 A G 11: 60,094,957 (GRCm39) S446P probably benign Het
Sys1 T G 2: 164,305,225 (GRCm39) L56R probably damaging Het
Trpc7 G T 13: 56,937,535 (GRCm39) Y585* probably null Het
Vmn2r110 T A 17: 20,794,929 (GRCm39) Y580F probably benign Het
Zmym6 G T 4: 127,002,499 (GRCm39) V485F probably damaging Het
Other mutations in Abhd17c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Abhd17c APN 7 83,800,622 (GRCm39) missense possibly damaging 0.93
IGL02835:Abhd17c UTSW 7 83,800,731 (GRCm39) missense probably benign 0.00
R2127:Abhd17c UTSW 7 83,759,870 (GRCm39) missense probably damaging 1.00
R2151:Abhd17c UTSW 7 83,800,663 (GRCm39) missense probably damaging 1.00
R2495:Abhd17c UTSW 7 83,759,884 (GRCm39) nonsense probably null
R5111:Abhd17c UTSW 7 83,800,646 (GRCm39) nonsense probably null
R7812:Abhd17c UTSW 7 83,800,624 (GRCm39) nonsense probably null
R9449:Abhd17c UTSW 7 83,763,637 (GRCm39) missense probably damaging 0.99
R9640:Abhd17c UTSW 7 83,800,814 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04