Incidental Mutation 'R8432:Abhd5'
ID 653817
Institutional Source Beutler Lab
Gene Symbol Abhd5
Ensembl Gene ENSMUSG00000032540
Gene Name abhydrolase domain containing 5
Synonyms 2010002J10Rik, 1300003D03Rik, CGI-58, IECN5, NCIE2
MMRRC Submission 067882-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8432 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 122180681-122210589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122197317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 168 (Y168C)
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 probably damaging
Transcript: ENSMUST00000154161
AA Change: Y125C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540
AA Change: Y125C

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 damaging
Transcript: ENSMUST00000156520
AA Change: Y168C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: Y168C

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
Meta Mutation Damage Score 0.7680 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A C 7: 76,774,434 (GRCm39) R1119S unknown Het
Agpat5 A T 8: 18,896,777 (GRCm39) N68Y probably benign Het
Ap4b1 G A 3: 103,728,135 (GRCm39) R551Q probably benign Het
Arhgef28 T C 13: 98,088,091 (GRCm39) I1122V probably benign Het
Arhgef40 T A 14: 52,226,857 (GRCm39) D300E probably benign Het
Atxn7 T C 14: 14,013,635 (GRCm38) V112A probably benign Het
AY358078 T A 14: 52,059,635 (GRCm39) L324H unknown Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bnip5 C T 17: 29,118,545 (GRCm39) R629H probably benign Het
Cacng2 A G 15: 77,897,522 (GRCm39) Y96H probably damaging Het
Cd2ap A T 17: 43,109,484 (GRCm39) probably null Het
Cdh5 A T 8: 104,839,698 (GRCm39) E56D probably damaging Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Cpne3 A T 4: 19,535,227 (GRCm39) S268R probably benign Het
Cubn T A 2: 13,386,610 (GRCm39) I1552F probably benign Het
Dhrs7 G A 12: 72,711,581 (GRCm39) probably benign Het
Dnah7a G C 1: 53,657,195 (GRCm39) I860M possibly damaging Het
Dync1h1 A T 12: 110,584,576 (GRCm39) M660L probably benign Het
Ecd T A 14: 20,370,998 (GRCm39) T574S probably benign Het
Efna5 A G 17: 62,958,017 (GRCm39) Y80H probably damaging Het
Ercc5 A T 1: 44,206,841 (GRCm39) K585* probably null Het
Erich4 A G 7: 25,314,533 (GRCm39) S127P probably benign Het
Gckr A T 5: 31,466,447 (GRCm39) Q474L possibly damaging Het
Gid8 A G 2: 180,356,654 (GRCm39) N97S probably benign Het
Gm28042 G T 2: 119,869,077 (GRCm39) C557F probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Gzf1 A G 2: 148,532,115 (GRCm39) T581A probably benign Het
Heatr5b A T 17: 79,110,930 (GRCm39) Y973N probably damaging Het
Herc2 A G 7: 55,804,860 (GRCm39) E2296G probably benign Het
Hydin A T 8: 111,324,583 (GRCm39) N4648I probably benign Het
Mlip A T 9: 77,098,011 (GRCm39) D157E possibly damaging Het
Mrpl19 A G 6: 81,939,136 (GRCm39) V222A probably damaging Het
Myo18b A G 5: 112,912,378 (GRCm39) V1896A probably benign Het
Myo9a G A 9: 59,687,548 (GRCm39) V218M probably damaging Het
Nepn A T 10: 52,267,880 (GRCm39) T49S probably benign Het
Nsd1 T G 13: 55,395,516 (GRCm39) M1142R possibly damaging Het
Or52e8 T G 7: 104,625,199 (GRCm39) T2P probably benign Het
Or8b40 A G 9: 38,027,272 (GRCm39) Y65C probably damaging Het
Otulinl A T 15: 27,664,818 (GRCm39) M46K possibly damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Pgm2l1 A G 7: 99,909,260 (GRCm39) D242G possibly damaging Het
Pkdrej T G 15: 85,701,494 (GRCm39) I1481L probably benign Het
Prkag1 T C 15: 98,713,425 (GRCm39) I87V possibly damaging Het
Psma1 A T 7: 113,873,080 (GRCm39) I74N probably damaging Het
Rap1gds1 T C 3: 138,647,548 (GRCm39) S547G probably damaging Het
Rbm19 T G 5: 120,313,991 (GRCm39) F868V probably damaging Het
Riok1 T C 13: 38,221,468 (GRCm39) V11A probably benign Het
Smpd3 T A 8: 106,984,309 (GRCm39) probably null Het
Taar3 A T 10: 23,826,053 (GRCm39) I200L probably benign Het
Taf12 A G 4: 132,019,228 (GRCm39) Y139C probably damaging Het
Taf15 AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG AGAAGTGG 11: 83,395,851 (GRCm39) probably benign Het
Tc2n A T 12: 101,615,363 (GRCm39) N487K probably benign Het
Tex15 A C 8: 34,066,572 (GRCm39) I2001L probably damaging Het
Tmem168 A G 6: 13,602,535 (GRCm39) F277S probably benign Het
Trim67 TGCCGCCGCCGCCGC TGCCGCCGCCGC 8: 125,520,801 (GRCm39) probably benign Het
Tspan1 G T 4: 116,021,151 (GRCm39) Q116K probably benign Het
Ttc24 G A 3: 87,977,366 (GRCm39) R325C probably benign Het
Ttn C T 2: 76,693,900 (GRCm39) E323K Het
Xirp2 A T 2: 67,340,962 (GRCm39) M1068L probably benign Het
Zbtb38 A C 9: 96,568,291 (GRCm39) M931R possibly damaging Het
Zfp931 A G 2: 177,711,346 (GRCm39) *65Q probably null Het
Other mutations in Abhd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Abhd5 APN 9 122,197,146 (GRCm39) missense possibly damaging 0.73
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
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
Predicted Primers PCR Primer
(F):5'- CTGAATTTTGAAGATCTAAGCACCG -3'
(R):5'- ACGTCCTTTGTCAAGCTTATCAAC -3'

Sequencing Primer
(F):5'- CGATAGGCCTGTCTATGCC -3'
(R):5'- CCTTTGTCAAGCTTATCAACATACAG -3'
Posted On 2020-10-20