Incidental Mutation 'R6901:Abhd5'
ID 538543
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 044995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6901 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 122180681-122210589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122197220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 136 (S136T)
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 benign
Transcript: ENSMUST00000154161
AA Change: S93T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540
AA Change: S93T

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: S136T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: S136T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa10 T C 8: 62,549,816 (GRCm39) T10A probably damaging Het
Ap3b1 A G 13: 94,554,650 (GRCm39) E262G probably benign Het
Ap3b2 T C 7: 81,134,660 (GRCm39) probably null Het
Arhgef40 A G 14: 52,234,825 (GRCm39) T1043A probably damaging Het
Arhgef5 T A 6: 43,250,232 (GRCm39) S328T probably benign Het
Arid4a A G 12: 71,113,911 (GRCm39) K166R probably damaging Het
Cdh12 A G 15: 21,583,872 (GRCm39) I571V probably benign Het
Cdh4 G A 2: 179,501,987 (GRCm39) V316I probably benign Het
Cebpg A T 7: 34,750,202 (GRCm39) H20Q probably benign Het
Ces4a G A 8: 105,873,330 (GRCm39) V392I probably benign Het
CN725425 C A 15: 91,124,966 (GRCm39) P169T possibly damaging Het
Cyp2c54 A G 19: 40,058,703 (GRCm39) F243S probably damaging Het
Dkk2 T A 3: 131,880,887 (GRCm39) probably null Het
Dync2h1 A G 9: 7,131,855 (GRCm39) Y1651H probably damaging Het
Dyrk1b T A 7: 27,884,542 (GRCm39) L346Q probably damaging Het
Ephx4 T C 5: 107,561,427 (GRCm39) V85A probably benign Het
Etv6 A G 6: 134,243,421 (GRCm39) E392G probably benign Het
Fli1 T A 9: 32,341,221 (GRCm39) N202I probably benign Het
Gpc6 G T 14: 118,188,629 (GRCm39) R421L possibly damaging Het
Gse1 A G 8: 120,956,561 (GRCm39) probably benign Het
Hdac1-ps A G 17: 78,800,089 (GRCm39) E360G probably benign Het
Hnrnpab T C 11: 51,492,675 (GRCm39) probably benign Het
Hyal4 A G 6: 24,756,190 (GRCm39) E136G probably damaging Het
Ift56 G A 6: 38,378,079 (GRCm39) R297H possibly damaging Het
Kcna3 C T 3: 106,943,884 (GRCm39) A49V probably benign Het
Krt42 C T 11: 100,160,542 (GRCm39) M52I probably benign Het
Lyrm4 A T 13: 36,301,107 (GRCm39) Y13N probably damaging Het
Map2 C T 1: 66,460,932 (GRCm39) S1576L possibly damaging Het
Map3k12 G T 15: 102,409,065 (GRCm39) P817T possibly damaging Het
Map3k12 G T 15: 102,409,064 (GRCm39) P817Q possibly damaging Het
Masp1 T C 16: 23,332,584 (GRCm39) K84E probably damaging Het
Mki67 A T 7: 135,310,489 (GRCm39) probably null Het
Mrap C G 16: 90,546,193 (GRCm39) S94C probably damaging Het
Mybpc2 C A 7: 44,154,779 (GRCm39) C986F probably damaging Het
Nbea A C 3: 55,926,836 (GRCm39) M789R probably damaging Het
Or2ag1b T C 7: 106,288,396 (GRCm39) I181V probably benign Het
Or6b2 G T 1: 92,408,327 (GRCm39) N5K probably damaging Het
Pde4a A G 9: 21,116,266 (GRCm39) N475S probably benign Het
Pex7 C T 10: 19,736,740 (GRCm39) V297I probably benign Het
Pkd1l3 A T 8: 110,341,246 (GRCm39) H33L unknown Het
Prl8a6 A T 13: 27,621,030 (GRCm39) Y67N possibly damaging Het
Rcor1 A T 12: 111,075,322 (GRCm39) E383V probably damaging Het
Slc22a27 A T 19: 7,903,944 (GRCm39) S64R probably damaging Het
Snx7 G A 3: 117,623,285 (GRCm39) Q292* probably null Het
Tgm3 C T 2: 129,883,890 (GRCm39) T516M possibly damaging Het
Trim9 T C 12: 70,393,413 (GRCm39) E177G probably damaging Het
Ttc28 C A 5: 111,424,891 (GRCm39) T1541N possibly damaging Het
Ttc8 T A 12: 98,927,735 (GRCm39) L202H probably damaging Het
Ttll13 T C 7: 79,899,930 (GRCm39) Y90H probably damaging Het
Uba1y T G Y: 825,496 (GRCm39) I286S probably benign Het
Ubxn11 G A 4: 133,853,575 (GRCm39) A125T probably damaging Het
Vmn1r48 A G 6: 90,013,550 (GRCm39) Y92H possibly damaging Het
Vmn1r74 T C 7: 11,581,368 (GRCm39) F223L probably benign Het
Vwa5b1 G A 4: 138,313,880 (GRCm39) T696I probably benign Het
Zfp266 G T 9: 20,410,895 (GRCm39) Y427* probably null Het
Zfp362 C T 4: 128,679,808 (GRCm39) C273Y probably damaging Het
Zfp385c T C 11: 100,523,585 (GRCm39) N123S probably benign Het
Zfp936 T A 7: 42,839,467 (GRCm39) H311Q probably damaging 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
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'- ATATGGACGCTGATGTTCTCTCAC -3'
(R):5'- TTGTGAGGCTCATCGGTAACC -3'

Sequencing Primer
(F):5'- CATTTCTAGTAAGACGCCACTTG -3'
(R):5'- GGCTCATCGGTAACCACCAAG -3'
Posted On 2018-11-06