Incidental Mutation 'R5786:Abhd5'
ID 448027
Institutional Source Beutler Lab
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 # R5786 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 122180681-122210589 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 122192868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035128] [ENSMUST00000111497] [ENSMUST00000154161] [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
SMART Domains Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540

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 null
Transcript: ENSMUST00000154161
SMART Domains Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540

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
SMART Domains Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540

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: ENSMUST00000176005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216775
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,122 (GRCm39) D200E probably damaging Het
4930578I06Rik C A 14: 64,210,691 (GRCm39) R179L probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Apob C T 12: 8,065,304 (GRCm39) T4091I possibly damaging Het
Avil G A 10: 126,852,368 (GRCm39) probably null Het
Cacna1a T C 8: 85,142,350 (GRCm39) probably benign Het
Capn7 T C 14: 31,082,102 (GRCm39) L436P probably damaging Het
Ccdc33 A G 9: 57,937,235 (GRCm39) S655P possibly damaging Het
Ccr6 T C 17: 8,475,244 (GRCm39) S150P probably damaging Het
Cd1d1 T C 3: 86,906,095 (GRCm39) N60S probably benign Het
Ckap5 A G 2: 91,446,641 (GRCm39) probably null Het
Col15a1 A G 4: 47,280,865 (GRCm39) E753G possibly damaging Het
Col1a2 C T 6: 4,530,223 (GRCm39) R699W unknown Het
Cracd T C 5: 77,014,043 (GRCm39) probably null Het
Csf2rb T C 15: 78,233,155 (GRCm39) Y821H probably damaging Het
Cyp3a11 A G 5: 145,799,284 (GRCm39) I301T possibly damaging Het
Dpp3 C T 19: 4,968,350 (GRCm39) G241R possibly damaging Het
Dpyd G T 3: 119,220,886 (GRCm39) M952I probably damaging Het
Dsg3 A T 18: 20,654,628 (GRCm39) I111L possibly damaging Het
Ect2 A G 3: 27,201,102 (GRCm39) F123L probably damaging Het
Ehmt2 G C 17: 35,129,719 (GRCm39) D961H probably damaging Het
Esp1 A G 17: 41,041,809 (GRCm39) I34V probably benign Het
Fam171b G A 2: 83,708,580 (GRCm39) V361I probably benign Het
Flnc T A 6: 29,459,536 (GRCm39) Y2545* probably null Het
Fmo4 C T 1: 162,631,286 (GRCm39) G227D probably benign Het
Grn C T 11: 102,324,869 (GRCm39) Q153* probably null Het
H2-DMb1 T G 17: 34,372,408 (GRCm39) S12R possibly damaging Het
Ica1 G T 6: 8,672,391 (GRCm39) N203K possibly damaging Het
Kdm4c C A 4: 74,277,722 (GRCm39) T792K probably damaging Het
Kif19a T A 11: 114,670,049 (GRCm39) Y81* probably null Het
Kifc2 G T 15: 76,548,578 (GRCm39) C440F probably damaging Het
Lpin2 A G 17: 71,537,268 (GRCm39) T234A probably benign Het
Lysmd2 C A 9: 75,542,885 (GRCm39) P164Q probably benign Het
Maea T A 5: 33,526,027 (GRCm39) D234E probably benign Het
Map4k1 T A 7: 28,699,445 (GRCm39) V572E probably damaging Het
Med6 C T 12: 81,620,733 (GRCm39) G166R probably null Het
Mtmr10 T C 7: 63,987,458 (GRCm39) I666T probably damaging Het
Myh14 T A 7: 44,262,887 (GRCm39) K1777M probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Obscn A G 11: 58,923,517 (GRCm39) S6461P probably damaging Het
Or1j4 T C 2: 36,740,061 (GRCm39) M1T probably null Het
Osbpl7 T A 11: 96,956,658 (GRCm39) V567E probably damaging Het
Rad51ap2 A T 12: 11,506,921 (GRCm39) D281V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl24 C A 16: 55,787,516 (GRCm39) H59N possibly damaging Het
Rtl1 G A 12: 109,559,053 (GRCm39) L929F possibly damaging Het
Runx3 C T 4: 134,890,575 (GRCm39) T159I probably damaging Het
Serpine2 T C 1: 79,794,637 (GRCm39) I99V probably benign Het
Slc12a6 C A 2: 112,115,067 (GRCm39) P12Q probably benign Het
Slc25a18 T C 6: 120,769,035 (GRCm39) L184P probably damaging Het
Smg1 T C 7: 117,812,120 (GRCm39) D57G probably benign Het
Spdye4c T A 2: 128,438,761 (GRCm39) *340K probably null Het
Srsf5 G A 12: 80,996,311 (GRCm39) E162K possibly damaging Het
Ssc5d T C 7: 4,939,817 (GRCm39) V751A probably benign Het
Tcf3 T C 10: 80,255,333 (GRCm39) N157S probably benign Het
Tdrd7 T C 4: 45,989,082 (GRCm39) V71A probably benign Het
Tex14 T C 11: 87,405,121 (GRCm39) C678R probably damaging Het
Tgm3 A T 2: 129,868,704 (GRCm39) K214* probably null Het
Vps53 A G 11: 75,953,833 (GRCm39) I659T probably benign Het
Zfp597 A T 16: 3,684,023 (GRCm39) C244* probably null Het
Zfp933 T A 4: 147,912,864 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GTTTGTAAAGTTCTTGCCTCACAG -3'
(R):5'- GCTGGTGTGCATAGAGAAGC -3'

Sequencing Primer
(F):5'- TAAAGTTCTTGCCTCACAGGACCTAG -3'
(R):5'- AAAGGAGGCTTGCTCACTC -3'
Posted On 2016-12-15