Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Abhd5'

571636

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

045400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122180681-122210589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122208638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 343 (V343I)

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 benign
Transcript: ENSMUST00000111497
AA Change: V190I

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540
AA Change: V190I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156520
AA Change: V343I

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: V343I

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,302 (GRCm39)	M226K	probably benign	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm39)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,502,335 (GRCm39)	I165S	probably damaging	Het
Abca14	G	A	7: 119,877,534 (GRCm39)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,617,319 (GRCm39)	P582S	probably damaging	Het
Adam6a	C	T	12: 113,509,192 (GRCm39)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,385,590 (GRCm39)	R313H	probably damaging	Het
Aplf	G	A	6: 87,623,197 (GRCm39)	T315I	probably damaging	Het
Asic5	C	T	3: 81,928,383 (GRCm39)	P491S	probably benign	Het
Atp5f1b	T	C	10: 127,921,391 (GRCm39)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,861,099 (GRCm39)	I51N	probably damaging	Het
Bmal2	G	A	6: 146,723,632 (GRCm39)	V321I	not run	Het
C4b	A	G	17: 34,962,633 (GRCm39)	L23S	probably damaging	Het
Cables2	A	G	2: 179,902,129 (GRCm39)	V410A		Het
Ccdc168	T	A	1: 44,100,076 (GRCm39)	K341*	probably null	Het
Cdyl	A	G	13: 36,047,378 (GRCm39)	M489V	probably damaging	Het
Clip4	T	C	17: 72,096,996 (GRCm39)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,589,348 (GRCm39)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,755,708 (GRCm39)	M194V	probably benign	Het
Colec11	T	A	12: 28,644,714 (GRCm39)	D260V	probably damaging	Het
Cracdl	T	C	1: 37,653,699 (GRCm39)	T1036A	possibly damaging	Het
Cux2	T	C	5: 121,999,319 (GRCm39)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,501,436 (GRCm39)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 130,713,861 (GRCm39)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,556,946 (GRCm39)	T288A	probably benign	Het
Dock8	T	A	19: 25,162,245 (GRCm39)	F1842I	probably benign	Het
Dysf	A	G	6: 84,083,880 (GRCm39)	I740V	probably benign	Het
Epha6	T	A	16: 59,736,201 (GRCm39)	M778L	probably benign	Het
Eri2	A	T	7: 119,385,739 (GRCm39)	L254*	probably null	Het
Fam43b	A	G	4: 138,123,152 (GRCm39)	F56S	probably damaging	Het
Fat4	C	A	3: 38,943,294 (GRCm39)	S729*	probably null	Het
Fbxw22	C	A	9: 109,211,143 (GRCm39)	W386L	probably benign	Het
Fgd6	T	A	10: 93,879,909 (GRCm39)	C254*	probably null	Het
Fgd6	C	A	10: 93,975,743 (GRCm39)	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,502,108 (GRCm39)	D98E	possibly damaging	Het
Hectd1	C	T	12: 51,832,635 (GRCm39)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,769,841 (GRCm39)	M105K	probably benign	Het
Icam1	A	C	9: 20,930,311 (GRCm39)	D55A	probably benign	Het
Itga2	A	C	13: 114,993,930 (GRCm39)		probably null	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Klra17	T	A	6: 129,808,555 (GRCm39)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,759,064 (GRCm39)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,158,728 (GRCm39)	D615V	unknown	Het
Lrp2	T	A	2: 69,312,725 (GRCm39)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,408,825 (GRCm39)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,337,129 (GRCm39)	G14A	probably benign	Het
Mfap5	T	A	6: 122,505,381 (GRCm39)	D162E	probably benign	Het
Mixl1	T	C	1: 180,524,523 (GRCm39)	I19V	probably benign	Het
Mtrr	G	T	13: 68,716,979 (GRCm39)	Y411*	probably null	Het
Myh7	T	C	14: 55,227,482 (GRCm39)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,349,383 (GRCm39)	Y2348*	probably null	Het
Nhsl3	A	G	4: 129,119,211 (GRCm39)	Y170H	probably damaging	Het
Niban2	T	C	2: 32,812,654 (GRCm39)	S468P	possibly damaging	Het
Nlrc3	T	C	16: 3,781,454 (GRCm39)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or10ag59	T	A	2: 87,406,052 (GRCm39)	V208E	probably damaging	Het
Or12j2	A	T	7: 139,916,654 (GRCm39)	D293V	possibly damaging	Het
Or4c117	C	A	2: 88,955,180 (GRCm39)	R298S	probably benign	Het
Pcna	A	G	2: 132,094,797 (GRCm39)	S54P	probably benign	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,739,918 (GRCm39)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,786,352 (GRCm39)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,690,357 (GRCm39)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,816,692 (GRCm39)	V249A	probably damaging	Het
Rai1	G	A	11: 60,079,499 (GRCm39)	V1188I	probably benign	Het
Ric1	G	A	19: 29,561,978 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,786,519 (GRCm39)	Q844*	probably null	Het
Rpn1	A	G	6: 88,061,619 (GRCm39)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,277,810 (GRCm39)	M348L	probably benign	Het
Setd4	T	C	16: 93,380,830 (GRCm39)		probably null	Het
Setd5	T	G	6: 113,124,518 (GRCm39)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,289,084 (GRCm39)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,937,121 (GRCm39)	S113*	probably null	Het
Syne2	T	A	12: 76,149,810 (GRCm39)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,192,373 (GRCm39)	I38L	probably damaging	Het
Tepsin	G	T	11: 119,982,534 (GRCm39)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,606,586 (GRCm39)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,659,509 (GRCm39)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 41,785,826 (GRCm39)	S210T	probably benign	Het
Wdr6	G	T	9: 108,451,784 (GRCm39)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,052,790 (GRCm39)	T29A	probably benign	Het
Zfp335	A	G	2: 164,742,052 (GRCm39)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,653,844 (GRCm39)	S113T	probably benign	Het
Zfp873	T	A	10: 81,897,071 (GRCm39)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,325,146 (GRCm39)		probably null	Het
Zmynd8	T	C	2: 165,681,929 (GRCm39)	T201A	probably damaging	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
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'- TGGTGGAATTGACTAAGATCCAG -3'
(R):5'- GGAAAGCCATTCTTCTAGAAGGC -3'

Sequencing Primer
(F):5'- GCCTTCTGATAGAAAGCCTAAGTC -3'
(R):5'- AGCCATTCTTCTAGAAGGCACTGG -3'

Posted On

2019-09-13