Incidental Mutation 'R1519:Abhd5'
ID 167292
Institutional Source Beutler Lab
Gene Symbol Abhd5
Ensembl Gene ENSMUSG00000032540
Gene Name abhydrolase domain containing 5
Synonyms NCIE2, IECN5, 2010002J10Rik, CGI-58, 1300003D03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 122351608-122381524 bp(+) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 122379014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035128] [ENSMUST00000111497] [ENSMUST00000111497] [ENSMUST00000156520] [ENSMUST00000175973]
AlphaFold Q9DBL9
Predicted Effect probably benign
Transcript: ENSMUST00000035128
Predicted Effect probably null
Transcript: ENSMUST00000111497
SMART Domains Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540

Pfam:Abhydrolase_6 3 189 7.8e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111497
SMART Domains Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540

Pfam:Abhydrolase_6 3 189 7.8e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000156520
SMART Domains Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540

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: ENSMUST00000177015
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
9230019H11Rik A G 10: 3,125,230 (GRCm38) noncoding transcript Het
9530077C05Rik T G 9: 22,430,375 (GRCm38) L114R probably benign Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Actn1 T C 12: 80,205,078 (GRCm38) E75G probably damaging Het
Adam4 A T 12: 81,420,877 (GRCm38) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm38) R689W probably damaging Het
Anxa2 T C 9: 69,485,241 (GRCm38) I124T probably damaging Het
Aph1c T C 9: 66,833,265 (GRCm38) T10A probably benign Het
Arhgap40 T A 2: 158,546,801 (GRCm38) W552R probably benign Het
Baz2b C T 2: 59,948,254 (GRCm38) R754H possibly damaging Het
Blmh A G 11: 76,966,781 (GRCm38) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm38) L83F probably damaging Het
Cd163l1 G A 7: 140,228,156 (GRCm38) V747I probably benign Het
Cdh23 A T 10: 60,379,343 (GRCm38) Y1403N possibly damaging Het
Cic A T 7: 25,293,810 (GRCm38) probably null Het
Coro1b T A 19: 4,150,584 (GRCm38) V200D possibly damaging Het
Csl T A 10: 99,757,955 (GRCm38) E416V probably damaging Het
Cyp3a25 A G 5: 146,001,447 (GRCm38) probably null Het
Dennd2d T A 3: 106,492,559 (GRCm38) F266Y probably damaging Het
Dnah10 A G 5: 124,760,952 (GRCm38) E1072G probably damaging Het
Dnah6 T A 6: 73,049,048 (GRCm38) K3435N probably damaging Het
Dnah9 G A 11: 65,881,761 (GRCm38) A3715V probably damaging Het
Fam186a G A 15: 99,947,655 (GRCm38) S236L unknown Het
Fam198b A G 3: 79,941,464 (GRCm38) N506D possibly damaging Het
Frs3 A G 17: 47,702,978 (GRCm38) T199A probably benign Het
Fsd1 A G 17: 55,993,870 (GRCm38) N243S probably benign Het
Gabra5 A C 7: 57,408,893 (GRCm38) L369R probably benign Het
Gins4 A G 8: 23,234,776 (GRCm38) V54A probably benign Het
Gli1 T C 10: 127,334,269 (GRCm38) E339G possibly damaging Het
Gm12185 A G 11: 48,907,767 (GRCm38) V633A probably damaging Het
Gm8251 A G 1: 44,056,970 (GRCm38) V1656A probably benign Het
Gm8765 G A 13: 50,700,407 (GRCm38) probably null Het
Gpr83 T A 9: 14,868,197 (GRCm38) C182S probably null Het
Gspt1 A G 16: 11,220,855 (GRCm38) V627A probably damaging Het
Heatr1 T C 13: 12,412,159 (GRCm38) C722R probably benign Het
Jak1 C T 4: 101,162,922 (GRCm38) R680Q probably damaging Het
Kif2c A G 4: 117,169,940 (GRCm38) V287A probably damaging Het
Kmo A G 1: 175,656,802 (GRCm38) E366G probably damaging Het
Kmo C T 1: 175,651,618 (GRCm38) P240L possibly damaging Het
Lepr A T 4: 101,789,344 (GRCm38) N824I probably damaging Het
Lyrm7 T A 11: 54,848,599 (GRCm38) H75L possibly damaging Het
Map4k1 A T 7: 28,991,036 (GRCm38) Q351L probably benign Het
Mgam T C 6: 40,661,683 (GRCm38) I450T probably benign Het
Nbeal2 A G 9: 110,636,305 (GRCm38) L955P probably damaging Het
Nlrp9c T C 7: 26,378,101 (GRCm38) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm38) I70K probably benign Het
Olfr201 C T 16: 59,268,944 (GRCm38) C241Y probably damaging Het
Olfr298 A G 7: 86,489,125 (GRCm38) M142T probably damaging Het
Otud7a A G 7: 63,758,643 (GRCm38) Y898C probably damaging Het
Pcdhb18 A C 18: 37,490,892 (GRCm38) D425A probably damaging Het
Prdm1 A T 10: 44,439,986 (GRCm38) L733* probably null Het
Prdm2 A T 4: 143,135,583 (GRCm38) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,137,306 (GRCm38) D167G probably damaging Het
Rnf215 G T 11: 4,135,451 (GRCm38) R60L probably damaging Het
Sdk1 A T 5: 141,999,950 (GRCm38) H779L probably benign Het
Serpine2 A G 1: 79,795,031 (GRCm38) F390L probably damaging Het
Sh3d21 T A 4: 126,151,726 (GRCm38) K387* probably null Het
Slc13a2 T C 11: 78,397,746 (GRCm38) Y568C possibly damaging Het
Slc27a5 T C 7: 12,988,459 (GRCm38) probably null Het
Slc32a1 T C 2: 158,614,577 (GRCm38) L384P probably damaging Het
Sorcs1 T C 19: 50,252,587 (GRCm38) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm38) Y228C possibly damaging Het
Spc25 T C 2: 69,200,087 (GRCm38) I71V probably damaging Het
Tcte1 T A 17: 45,535,252 (GRCm38) F261I probably damaging Het
Thsd7a T A 6: 12,471,175 (GRCm38) K481N probably benign Het
Tll2 G T 19: 41,086,400 (GRCm38) N908K probably benign Het
Tmem236 T C 2: 14,192,280 (GRCm38) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,767,011 (GRCm38) S949N probably benign Het
Triobp A G 15: 78,973,738 (GRCm38) T1180A probably benign Het
Trip11 A C 12: 101,886,160 (GRCm38) D548E probably benign Het
Trpv2 T A 11: 62,589,826 (GRCm38) probably null Het
Vmn1r12 T A 6: 57,159,555 (GRCm38) H212Q probably damaging Het
Vmn2r112 A G 17: 22,618,903 (GRCm38) T782A possibly damaging Het
Vmn2r7 A G 3: 64,716,455 (GRCm38) V239A possibly damaging Het
Vmn2r80 T A 10: 79,194,219 (GRCm38) N626K probably damaging Het
Vmn2r99 A G 17: 19,380,060 (GRCm38) S449G probably benign Het
Wfikkn2 T C 11: 94,238,107 (GRCm38) T403A probably benign Het
Xirp2 A G 2: 67,515,679 (GRCm38) I2755V probably benign Het
Yjefn3 A G 8: 69,889,079 (GRCm38) V153A probably benign Het
Zfp677 C A 17: 21,397,237 (GRCm38) H185Q possibly damaging Het
Zfp947 C T 17: 22,146,292 (GRCm38) V134I probably benign Het
Other mutations in Abhd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Abhd5 APN 9 122,368,081 (GRCm38) missense possibly damaging 0.73
IGL02143:Abhd5 APN 9 122,365,213 (GRCm38) start codon destroyed probably null 0.01
IGL02949:Abhd5 APN 9 122,377,915 (GRCm38) missense possibly damaging 0.51
IGL03248:Abhd5 APN 9 122,368,225 (GRCm38) missense probably damaging 1.00
R0363:Abhd5 UTSW 9 122,368,146 (GRCm38) missense possibly damaging 0.61
R2108:Abhd5 UTSW 9 122,377,940 (GRCm38) missense probably damaging 1.00
R4818:Abhd5 UTSW 9 122,363,800 (GRCm38) splice site probably null
R5048:Abhd5 UTSW 9 122,377,903 (GRCm38) missense probably damaging 1.00
R5786:Abhd5 UTSW 9 122,363,803 (GRCm38) splice site probably null
R6141:Abhd5 UTSW 9 122,377,933 (GRCm38) missense probably benign 0.01
R6901:Abhd5 UTSW 9 122,368,155 (GRCm38) missense probably benign 0.18
R7296:Abhd5 UTSW 9 122,379,573 (GRCm38) missense probably benign 0.43
R8432:Abhd5 UTSW 9 122,368,252 (GRCm38) missense probably damaging 0.98
R8984:Abhd5 UTSW 9 122,351,815 (GRCm38) missense probably benign
R9050:Abhd5 UTSW 9 122,379,540 (GRCm38) missense probably benign 0.18
R9116:Abhd5 UTSW 9 122,367,927 (GRCm38) missense probably benign 0.00
R9464:Abhd5 UTSW 9 122,378,964 (GRCm38) missense probably benign
R9617:Abhd5 UTSW 9 122,367,970 (GRCm38) missense probably benign 0.00
R9625:Abhd5 UTSW 9 122,379,541 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13