Incidental Mutation 'IGL02143:Abhd5'
ID 281674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abhd5
Ensembl Gene ENSMUSG00000032540
Gene Name abhydrolase domain containing 5
Synonyms 2010002J10Rik, 1300003D03Rik, CGI-58, IECN5, NCIE2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02143
Quality Score
Status
Chromosome 9
Chromosomal Location 122180681-122210589 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 122194278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000122939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035128] [ENSMUST00000111497] [ENSMUST00000154161] [ENSMUST00000156520] [ENSMUST00000175973]
AlphaFold Q9DBL9
Predicted Effect probably benign
Transcript: ENSMUST00000035128
Predicted Effect probably benign
Transcript: ENSMUST00000111497
SMART Domains Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540

DomainStartEndE-ValueType
Pfam:Abhydrolase_6 3 189 7.8e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154161
AA Change: M1T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 36 127 1.4e-8 PFAM
Pfam:Abhydrolase_6 37 127 1.5e-18 PFAM
Pfam:Abhydrolase_1 61 127 2.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156520
AA Change: M44T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: M44T

DomainStartEndE-ValueType
Pfam:Hydrolase_4 75 246 4.1e-11 PFAM
Pfam:Abhydrolase_1 78 208 6e-20 PFAM
Pfam:Abhydrolase_5 79 330 6.7e-11 PFAM
Pfam:Abhydrolase_6 80 342 8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216775
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ager G A 17: 34,818,092 (GRCm39) G183E probably damaging Het
Alcam C A 16: 52,125,982 (GRCm39) V112L probably damaging Het
Amot T A X: 144,270,024 (GRCm39) Q204H probably damaging Het
Ankar C T 1: 72,697,808 (GRCm39) probably null Het
Armc9 A G 1: 86,104,587 (GRCm39) M279V possibly damaging Het
Bpifb1 C T 2: 154,051,849 (GRCm39) T218I probably benign Het
Cacna1f A C X: 7,480,234 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,395,474 (GRCm39) probably null Het
Ccdc57 A T 11: 120,752,069 (GRCm39) C837* probably null Het
Ctbp2 G A 7: 132,592,885 (GRCm39) A808V probably damaging Het
Dcbld2 T C 16: 58,268,889 (GRCm39) probably null Het
Dis3 T C 14: 99,328,754 (GRCm39) probably benign Het
Disp2 T C 2: 118,620,450 (GRCm39) F394S probably damaging Het
Dnah1 T C 14: 31,005,246 (GRCm39) N2336S probably damaging Het
Drap1 C A 19: 5,473,871 (GRCm39) L66F probably damaging Het
Eif5a2 C T 3: 28,847,888 (GRCm39) R109C probably benign Het
Enpp1 A T 10: 24,553,872 (GRCm39) D105E probably damaging Het
Evi5l G A 8: 4,241,293 (GRCm39) M275I probably damaging Het
Flt1 T C 5: 147,515,246 (GRCm39) T1059A probably benign Het
Fndc3c1 T C X: 105,516,340 (GRCm39) probably benign Het
Git1 T C 11: 77,396,813 (GRCm39) V645A possibly damaging Het
Gm7735 T A 16: 88,966,437 (GRCm39) C20* probably null Het
Ighv1-42 G T 12: 114,900,906 (GRCm39) P60T probably benign Het
Jakmip2 A T 18: 43,696,350 (GRCm39) L533Q probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lpin2 T C 17: 71,550,921 (GRCm39) S694P probably damaging Het
Mab21l2 C T 3: 86,454,562 (GRCm39) R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 (GRCm39) S174T probably benign Het
Neb T C 2: 52,181,211 (GRCm39) Y1132C probably damaging Het
Nhsl1 A T 10: 18,387,383 (GRCm39) H219L possibly damaging Het
Nwd2 T A 5: 63,948,996 (GRCm39) probably null Het
Obp1a A C X: 77,134,449 (GRCm39) M18R possibly damaging Het
Or13a19 A T 7: 139,903,505 (GRCm39) K298* probably null Het
Or2ag13 T C 7: 106,473,180 (GRCm39) T91A probably benign Het
Pabpc5 T A X: 118,837,688 (GRCm39) M1K probably null Het
Paxip1 A G 5: 27,980,596 (GRCm39) probably benign Het
Perm1 A G 4: 156,302,500 (GRCm39) E348G probably benign Het
Pfkfb1 T C X: 149,405,138 (GRCm39) F170L probably damaging Het
Pou3f3 A G 1: 42,737,686 (GRCm39) M461V probably benign Het
Ppfia2 G A 10: 106,693,360 (GRCm39) D622N probably damaging Het
Prtg T G 9: 72,799,606 (GRCm39) S801R probably damaging Het
Rars2 T A 4: 34,623,404 (GRCm39) probably benign Het
Rasal1 A G 5: 120,790,917 (GRCm39) D35G probably damaging Het
Repin1 T A 6: 48,574,055 (GRCm39) L272Q probably damaging Het
Spmip5 C A 19: 58,777,684 (GRCm39) R34L possibly damaging Het
Stk36 T C 1: 74,655,728 (GRCm39) probably benign Het
Tbxa2r A G 10: 81,170,320 (GRCm39) T269A probably benign Het
Tmem132c G A 5: 127,640,466 (GRCm39) R879Q probably benign Het
Vmn1r78 C A 7: 11,886,407 (GRCm39) A6E probably benign Het
Vps45 A T 3: 95,941,133 (GRCm39) N369K probably benign Het
Vps45 T C 3: 95,926,958 (GRCm39) I530V probably benign Het
Zkscan16 G A 4: 58,956,911 (GRCm39) G398R probably damaging Het
Other mutations in Abhd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Abhd5 APN 9 122,197,146 (GRCm39) missense possibly damaging 0.73
IGL02949:Abhd5 APN 9 122,206,980 (GRCm39) missense possibly damaging 0.51
IGL03248:Abhd5 APN 9 122,197,290 (GRCm39) missense probably damaging 1.00
R0363:Abhd5 UTSW 9 122,197,211 (GRCm39) missense possibly damaging 0.61
R1519:Abhd5 UTSW 9 122,208,079 (GRCm39) splice site probably null
R2108:Abhd5 UTSW 9 122,207,005 (GRCm39) missense probably damaging 1.00
R4818:Abhd5 UTSW 9 122,192,865 (GRCm39) splice site probably null
R5048:Abhd5 UTSW 9 122,206,968 (GRCm39) missense probably damaging 1.00
R5786:Abhd5 UTSW 9 122,192,868 (GRCm39) splice site probably null
R6141:Abhd5 UTSW 9 122,206,998 (GRCm39) missense probably benign 0.01
R6901:Abhd5 UTSW 9 122,197,220 (GRCm39) missense probably benign 0.18
R7296:Abhd5 UTSW 9 122,208,638 (GRCm39) missense probably benign 0.43
R8432:Abhd5 UTSW 9 122,197,317 (GRCm39) missense probably damaging 0.98
R8984:Abhd5 UTSW 9 122,180,880 (GRCm39) missense probably benign
R9050:Abhd5 UTSW 9 122,208,605 (GRCm39) missense probably benign 0.18
R9116:Abhd5 UTSW 9 122,196,992 (GRCm39) missense probably benign 0.00
R9464:Abhd5 UTSW 9 122,208,029 (GRCm39) missense probably benign
R9617:Abhd5 UTSW 9 122,197,035 (GRCm39) missense probably benign 0.00
R9625:Abhd5 UTSW 9 122,208,606 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16