Incidental Mutation 'IGL00515:Abhd8'
ID 5025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd8
Ensembl Gene ENSMUSG00000007950
Gene Name abhydrolase domain containing 8
Synonyms 0910001L24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00515
Quality Score
Status
Chromosome 8
Chromosomal Location 71909349-71916299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71909963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 395 (E395G)
Ref Sequence ENSEMBL: ENSMUSP00000008094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008094]
AlphaFold Q8R0P8
Predicted Effect probably damaging
Transcript: ENSMUST00000008094
AA Change: E395G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008094
Gene: ENSMUSG00000007950
AA Change: E395G

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
low complexity region 115 127 N/A INTRINSIC
low complexity region 139 148 N/A INTRINSIC
Pfam:Hydrolase_4 164 397 2e-17 PFAM
Pfam:Abhydrolase_1 168 289 1.2e-19 PFAM
Pfam:Abhydrolase_5 168 391 2.4e-20 PFAM
Pfam:Abhydrolase_6 170 403 1.4e-17 PFAM
low complexity region 411 435 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212503
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 T C 2: 90,624,304 (GRCm39) V188A possibly damaging Het
Arap3 A G 18: 38,108,979 (GRCm39) L1225P probably damaging Het
Btn2a2 A T 13: 23,662,746 (GRCm39) N372K probably damaging Het
C4b T C 17: 34,947,865 (GRCm39) D1650G probably damaging Het
Dip2b G A 15: 100,072,382 (GRCm39) R706Q probably damaging Het
Dscam T A 16: 96,409,265 (GRCm39) N1886I possibly damaging Het
Foxp2 A T 6: 15,403,818 (GRCm39) H390L probably damaging Het
Galnt5 T C 2: 57,889,080 (GRCm39) S227P probably benign Het
Hectd2 A G 19: 36,562,336 (GRCm39) T148A probably benign Het
Helz2 C T 2: 180,874,799 (GRCm39) W1898* probably null Het
Hmgxb4 C A 8: 75,727,539 (GRCm39) P174Q probably damaging Het
Il6st A G 13: 112,617,967 (GRCm39) probably null Het
Lef1 A G 3: 130,997,926 (GRCm39) R312G probably damaging Het
Mast2 G T 4: 116,168,526 (GRCm39) R805S probably benign Het
Naip2 C T 13: 100,291,395 (GRCm39) R1181K probably benign Het
Nfatc1 G T 18: 80,710,241 (GRCm39) H508Q probably damaging Het
Pabir1 T C 19: 24,453,996 (GRCm39) D242G probably damaging Het
Plekhg4 A G 8: 106,102,370 (GRCm39) T76A probably benign Het
Rln1 C T 19: 29,309,414 (GRCm39) V122I possibly damaging Het
Slc22a28 T C 19: 8,094,428 (GRCm39) I198V probably benign Het
Slco1c1 G A 6: 141,515,208 (GRCm39) R702H probably benign Het
Slit1 T A 19: 41,612,940 (GRCm39) H860L probably damaging Het
Slk A G 19: 47,630,535 (GRCm39) probably benign Het
Stab1 A T 14: 30,881,686 (GRCm39) I535N probably benign Het
Tigar A C 6: 127,065,042 (GRCm39) M202R probably damaging Het
Tsc22d1 A G 14: 76,655,917 (GRCm39) S42G probably damaging Het
Zc3h7a A T 16: 10,955,202 (GRCm39) N957K probably damaging Het
Other mutations in Abhd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Abhd8 APN 8 71,914,121 (GRCm39) missense probably benign 0.00
IGL02350:Abhd8 APN 8 71,914,121 (GRCm39) missense probably benign 0.00
IGL02357:Abhd8 APN 8 71,914,121 (GRCm39) missense probably benign 0.00
PIT4142001:Abhd8 UTSW 8 71,914,499 (GRCm39) missense probably damaging 1.00
R0135:Abhd8 UTSW 8 71,910,718 (GRCm39) missense probably benign 0.20
R0142:Abhd8 UTSW 8 71,914,506 (GRCm39) missense probably damaging 0.96
R1006:Abhd8 UTSW 8 71,911,085 (GRCm39) missense probably benign 0.19
R1411:Abhd8 UTSW 8 71,914,374 (GRCm39) missense probably damaging 1.00
R1676:Abhd8 UTSW 8 71,914,517 (GRCm39) missense probably damaging 1.00
R1937:Abhd8 UTSW 8 71,914,506 (GRCm39) missense possibly damaging 0.93
R1985:Abhd8 UTSW 8 71,916,157 (GRCm39) unclassified probably benign
R3724:Abhd8 UTSW 8 71,914,136 (GRCm39) missense probably benign 0.14
R5254:Abhd8 UTSW 8 71,911,042 (GRCm39) nonsense probably null
R5770:Abhd8 UTSW 8 71,909,972 (GRCm39) missense probably benign 0.07
R6030:Abhd8 UTSW 8 71,910,794 (GRCm39) missense possibly damaging 0.94
R6030:Abhd8 UTSW 8 71,910,794 (GRCm39) missense possibly damaging 0.94
R6474:Abhd8 UTSW 8 71,914,359 (GRCm39) missense probably damaging 1.00
R6501:Abhd8 UTSW 8 71,914,165 (GRCm39) nonsense probably null
R6769:Abhd8 UTSW 8 71,914,105 (GRCm39) missense probably damaging 1.00
R6771:Abhd8 UTSW 8 71,914,105 (GRCm39) missense probably damaging 1.00
R7406:Abhd8 UTSW 8 71,914,406 (GRCm39) missense probably benign
R7770:Abhd8 UTSW 8 71,910,894 (GRCm39) missense probably benign 0.09
R8268:Abhd8 UTSW 8 71,909,961 (GRCm39) missense probably benign 0.02
R9128:Abhd8 UTSW 8 71,914,389 (GRCm39) missense probably benign 0.00
R9305:Abhd8 UTSW 8 71,911,148 (GRCm39) missense possibly damaging 0.82
R9366:Abhd8 UTSW 8 71,914,328 (GRCm39) missense probably benign 0.18
Z1088:Abhd8 UTSW 8 71,914,445 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20