Incidental Mutation 'IGL01534:Abhd5'
ID 89873
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 # IGL01534
Quality Score
Status
Chromosome 9
Chromosomal Location 122180681-122210589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122197146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 111 (L111P)
Ref Sequence ENSEMBL: ENSMUSP00000122274 (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 possibly damaging
Transcript: ENSMUST00000154161
AA Change: L68P

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540
AA Change: L68P

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 possibly damaging
Transcript: ENSMUST00000156520
AA Change: L111P

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: L111P

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 C A 15: 76,478,926 (GRCm39) H383Q probably damaging Het
Arb2a T A 13: 78,147,830 (GRCm39) probably benign Het
Asns T A 6: 7,675,397 (GRCm39) H535L probably benign Het
Atf5 A G 7: 44,462,462 (GRCm39) S221P probably damaging Het
Atr T C 9: 95,747,599 (GRCm39) Y294H probably damaging Het
B230307C23Rik A G 16: 97,809,961 (GRCm39) probably benign Het
C1qtnf6 C T 15: 78,409,416 (GRCm39) E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 (GRCm39) probably benign Het
Cd48 C A 1: 171,523,307 (GRCm39) P50Q possibly damaging Het
Cnnm4 T C 1: 36,538,596 (GRCm39) Y593H probably benign Het
Col27a1 G A 4: 63,144,019 (GRCm39) R569Q probably benign Het
Cubn A T 2: 13,470,744 (GRCm39) C549* probably null Het
Dsg1a T A 18: 20,474,053 (GRCm39) M1042K probably benign Het
Dzip1 T A 14: 119,114,651 (GRCm39) T835S probably damaging Het
Eif3c T C 7: 126,156,867 (GRCm39) T389A probably benign Het
Erlin2 G T 8: 27,521,985 (GRCm39) E177* probably null Het
Gabrb1 T A 5: 72,026,772 (GRCm39) S91T possibly damaging Het
Grik3 T C 4: 125,579,983 (GRCm39) V576A probably damaging Het
Gtpbp2 T A 17: 46,474,430 (GRCm39) Y70N probably damaging Het
Idh3a T A 9: 54,508,506 (GRCm39) probably benign Het
Ift74 G A 4: 94,568,181 (GRCm39) R406H probably benign Het
Kcna7 C A 7: 45,055,935 (GRCm39) N50K probably damaging Het
Kcnd2 T C 6: 21,726,144 (GRCm39) S546P probably benign Het
Lrp4 G A 2: 91,303,986 (GRCm39) D134N probably damaging Het
Mcm2 A G 6: 88,864,700 (GRCm39) probably null Het
Nlrp12 T C 7: 3,288,463 (GRCm39) Y683C probably benign Het
Or14j3 A T 17: 37,900,963 (GRCm39) Y94N possibly damaging Het
Or2d4 T A 7: 106,543,546 (GRCm39) I221F probably damaging Het
Or8i2 A G 2: 86,852,228 (GRCm39) I220T probably damaging Het
Or9i1 A T 19: 13,839,283 (GRCm39) N42I probably damaging Het
Or9i14 T A 19: 13,792,666 (GRCm39) H96L probably benign Het
P2rx7 A C 5: 122,814,761 (GRCm39) I409L probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Rabggtb A G 3: 153,615,896 (GRCm39) probably null Het
Rgs4 A T 1: 169,572,085 (GRCm39) C71* probably null Het
Rnase10 T C 14: 51,245,436 (GRCm39) F5L probably benign Het
Scn11a T A 9: 119,609,888 (GRCm39) T987S probably benign Het
Shox2 A C 3: 66,885,696 (GRCm39) D126E probably benign Het
Slc12a1 A G 2: 125,059,830 (GRCm39) D910G probably damaging Het
Slc15a1 C T 14: 121,702,364 (GRCm39) C594Y possibly damaging Het
Spock2 C T 10: 59,962,883 (GRCm39) probably benign Het
Togaram1 G T 12: 65,013,321 (GRCm39) D191Y probably damaging Het
Triml2 T C 8: 43,640,660 (GRCm39) V172A probably benign Het
Tubb3 C T 8: 124,147,705 (GRCm39) R213C probably benign Het
Vmn2r4 A T 3: 64,313,844 (GRCm39) V379E probably damaging Het
Zfp446 C T 7: 12,713,493 (GRCm39) P153L probably damaging Het
Zfp608 A T 18: 55,032,004 (GRCm39) N645K probably damaging Het
Other mutations in Abhd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Abhd5 APN 9 122,194,278 (GRCm39) start codon destroyed probably null 0.01
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 2013-12-03