Mutagenetix > Incidental Mutation

Incidental Mutation 'R9625:Abhd5'

725099

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9625 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122180681-122210589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122208606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 332 (Y332C)

Ref Sequence

ENSEMBL: ENSMUSP00000122274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035128] [ENSMUST00000111497] [ENSMUST00000156520] [ENSMUST00000175973]

AlphaFold

Q9DBL9

Predicted Effect

probably benign
Transcript: ENSMUST00000035128

Predicted Effect

probably damaging
Transcript: ENSMUST00000111497
AA Change: Y179C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540
AA Change: Y179C

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_6	3	189	7.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156520
AA Change: Y332C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: Y332C

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	G	3: 121,465,033 (GRCm39)	E23G	unknown	Het
Adcyap1r1	A	T	6: 55,457,055 (GRCm39)	E262V	probably damaging	Het
Adgre5	A	G	8: 84,450,658 (GRCm39)	Y793H	probably damaging	Het
Arhgef33	A	T	17: 80,654,707 (GRCm39)	Y78F	possibly damaging	Het
Asl	G	A	5: 130,047,693 (GRCm39)	A91V	probably damaging	Het
Cd40	A	T	2: 164,905,061 (GRCm39)	I126F	probably benign	Het
Ceacam10	A	G	7: 24,476,705 (GRCm39)	E2G	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntnap3	A	T	13: 65,006,579 (GRCm39)	S78T	probably damaging	Het
Cntnap4	T	C	8: 113,602,181 (GRCm39)	V1195A	possibly damaging	Het
Cthrc1	T	C	15: 38,947,874 (GRCm39)	S198P	probably damaging	Het
Dcaf7	T	G	11: 105,942,794 (GRCm39)		probably null	Het
Dhx16	A	G	17: 36,193,413 (GRCm39)	E252G	probably benign	Het
Efcab2	C	T	1: 178,302,505 (GRCm39)	T83I	possibly damaging	Het
Efhc1	A	G	1: 21,049,738 (GRCm39)	N533D	probably benign	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Fam171b	A	T	2: 83,683,914 (GRCm39)	T144S	probably damaging	Het
Fam98a	A	G	17: 75,845,474 (GRCm39)	F424S	unknown	Het
Gm3573	T	C	14: 42,011,605 (GRCm39)	R42G	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,218,975 (GRCm39)	P23S	probably benign	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hoxb1	C	T	11: 96,256,810 (GRCm39)	A53V	probably benign	Het
Kalrn	T	A	16: 33,849,197 (GRCm39)		probably null	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kif1a	C	T	1: 93,000,766 (GRCm39)	E287K	probably benign	Het
Lrrk1	A	T	7: 65,909,666 (GRCm39)	*2015K	probably null	Het
Ltbp1	G	T	17: 75,486,157 (GRCm39)	G61C	probably damaging	Het
Mthfd2l	A	G	5: 91,107,567 (GRCm39)	H143R	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ncoa1	T	A	12: 4,345,643 (GRCm39)	Q568L	probably damaging	Het
Ncoa3	G	A	2: 165,899,130 (GRCm39)	S824N	probably benign	Het
Nfe2l3	A	T	6: 51,434,925 (GRCm39)	D495V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp14	A	G	7: 106,782,169 (GRCm39)	I455M	probably benign	Het
Npb	T	C	11: 120,499,375 (GRCm39)	L14P	probably damaging	Het
Or51f1	C	T	7: 102,505,636 (GRCm39)	M284I	probably benign	Het
P2ry12	G	A	3: 59,125,496 (GRCm39)	R60C	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,419 (GRCm39)	L403*	probably null	Het
Phb2	G	A	6: 124,690,974 (GRCm39)	R44H	probably damaging	Het
Plekha5	A	T	6: 140,372,253 (GRCm39)	T68S	probably benign	Het
Ptprg	C	T	14: 12,152,027 (GRCm38)	R447W	probably damaging	Het
Ptprk	T	C	10: 28,462,006 (GRCm39)	Y1190H	probably damaging	Het
Ptpro	G	T	6: 137,371,873 (GRCm39)	C630F	probably damaging	Het
Rrp15	G	T	1: 186,453,718 (GRCm39)	P243Q	possibly damaging	Het
Smurf1	A	G	5: 144,830,920 (GRCm39)	F285S	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Tex44	T	C	1: 86,354,253 (GRCm39)	I54T	unknown	Het
Tom1l2	A	G	11: 60,161,277 (GRCm39)	V78A	probably damaging	Het
Vps11	A	G	9: 44,265,738 (GRCm39)	W514R	probably damaging	Het
Wnk2	C	A	13: 49,254,445 (GRCm39)	V357L	probably benign	Het
Zfp970	C	T	2: 177,167,790 (GRCm39)	Q455*	probably null	Het

Other mutations in Abhd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGAGTGTCATTTCTGCTGGC -3'
(R):5'- TGTGGAAAGCTGCAGAGTC -3'

Sequencing Primer
(F):5'- TGCATGGTGGAATTGACTAAGATCC -3'
(R):5'- GAAAGCTGCAGAGTCCAGTCC -3'

Posted On

2022-09-12