Mutagenetix > Incidental Mutation

Incidental Mutation 'R6141:Abhd5'

488589

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

044288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122180681-122210589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122206998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 95 (T95S)

Ref Sequence

ENSEMBL: ENSMUSP00000107123 (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: T95S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540
AA Change: T95S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156520
AA Change: T248S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: T248S

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

Meta Mutation Damage Score

0.1241

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	T	7: 42,097,483 (GRCm39)	C4S	probably damaging	Het
Ambra1	A	T	2: 91,706,099 (GRCm39)	N795Y	probably damaging	Het
Brca2	A	G	5: 150,464,102 (GRCm39)	N1289D	possibly damaging	Het
Cavin2	T	C	1: 51,340,097 (GRCm39)	L258P	probably damaging	Het
Ccdc110	A	G	8: 46,394,807 (GRCm39)	T233A	possibly damaging	Het
Ccdc14	T	A	16: 34,526,932 (GRCm39)	I279N	probably damaging	Het
Cntn5	A	T	9: 10,144,162 (GRCm39)	L169Q	probably benign	Het
Dbf4	T	C	5: 8,458,545 (GRCm39)	S157G	possibly damaging	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Eepd1	T	A	9: 25,394,280 (GRCm39)	D181E	probably benign	Het
Etfa	T	C	9: 55,372,103 (GRCm39)	H286R	probably damaging	Het
Gm44419	T	A	6: 65,127,940 (GRCm39)		noncoding transcript	Het
Gpatch4	C	T	3: 87,962,047 (GRCm39)	R155*	probably null	Het
Grik1	T	G	16: 87,693,760 (GRCm39)	R862S	probably benign	Het
Hectd1	A	C	12: 51,792,875 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,892,972 (GRCm39)	W919R	probably damaging	Het
Iqgap2	A	T	13: 95,858,194 (GRCm39)		probably null	Het
Kcnq4	A	T	4: 120,573,066 (GRCm39)	I245N	probably damaging	Het
Map3k3	G	T	11: 105,987,874 (GRCm39)	R21L	probably benign	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Msr1	A	T	8: 40,084,360 (GRCm39)	V65E	probably damaging	Het
Myom2	A	T	8: 15,113,903 (GRCm39)	D17V	probably damaging	Het
Naaladl1	T	A	19: 6,159,785 (GRCm39)		probably null	Het
Naip6	T	C	13: 100,444,741 (GRCm39)	Y239C	possibly damaging	Het
Nckap1	C	A	2: 80,360,551 (GRCm39)	D533Y	probably damaging	Het
Ndufs2	T	C	1: 171,064,185 (GRCm39)	E375G	probably damaging	Het
Nsd1	T	C	13: 55,439,097 (GRCm39)	V1605A	probably damaging	Het
Or4k42	A	G	2: 111,320,464 (GRCm39)	I13T	probably benign	Het
Or52ae9	C	A	7: 103,389,994 (GRCm39)	R151L	probably damaging	Het
Or5ac17	T	A	16: 59,036,916 (GRCm39)	H20L	probably benign	Het
Or5b114-ps1	A	T	19: 13,352,647 (GRCm39)	Y107F	probably benign	Het
Or7e176	T	A	9: 20,171,754 (GRCm39)	M206K	probably benign	Het
Pcp2	G	A	8: 3,673,543 (GRCm39)		probably null	Het
Pdgfra	A	G	5: 75,334,057 (GRCm39)	S377G	probably damaging	Het
Reep5	A	T	18: 34,505,511 (GRCm39)	Y53*	probably null	Het
Ric1	T	C	19: 29,572,842 (GRCm39)	S761P	probably damaging	Het
Satb1	T	C	17: 52,082,404 (GRCm39)	T417A	possibly damaging	Het
Slc1a7	T	A	4: 107,859,379 (GRCm39)	M156K	possibly damaging	Het
Slc4a10	A	G	2: 62,041,789 (GRCm39)	E123G	probably damaging	Het
Slc66a1	A	G	4: 139,027,556 (GRCm39)	V262A	probably benign	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Stard13	A	T	5: 150,965,707 (GRCm39)	V916E	probably damaging	Het
Tlr1	T	C	5: 65,082,556 (GRCm39)	R674G	possibly damaging	Het
Tnfsf11	A	G	14: 78,545,299 (GRCm39)	Y11H	probably damaging	Het
Tnr	T	A	1: 159,714,692 (GRCm39)	V857E	probably benign	Het
Tubgcp5	A	G	7: 55,456,526 (GRCm39)	I373V	probably benign	Het
Ush2a	A	T	1: 188,090,160 (GRCm39)	R414S	possibly damaging	Het
Vmn2r100	T	C	17: 19,742,576 (GRCm39)	S317P	probably benign	Het
Wdr49	A	T	3: 75,230,989 (GRCm39)	F558I	probably benign	Het
Zfyve16	A	G	13: 92,648,105 (GRCm39)	I983T	probably benign	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
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'- AAAGCAATGTCCGGGATGTATAC -3'
(R):5'- GGTCACGTCCTTAGACTTTGC -3'

Sequencing Primer
(F):5'- GTCCGGGATGTATACTTTTTCCAAC -3'
(R):5'- TTACCTTGCCCAAAGCTCGG -3'

Posted On

2017-10-10