Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Abhd5'

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

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

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

Predicted Effect

probably null
Transcript: ENSMUST00000111497

SMART Domains

Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540

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

Predicted Effect

probably null
Transcript: ENSMUST00000156520

SMART Domains

Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- TTCCTTATGGGTGGGCCAAACG -3'
(R):5'- ACAACTGTGTGTACTGCACTGGG -3'

Sequencing Primer
(F):5'- ACGGCCAATGCTTCAGC -3'
(R):5'- AGCTTATCTGATTCTGAGCCAG -3'

Posted On

2014-04-13