Mutagenetix > Incidental Mutation

Incidental Mutation 'R8984:Abhd5'

683904

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

068817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122180681-122210589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122180880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 10 (V10E)

Ref Sequence

ENSEMBL: ENSMUSP00000122274 (fasta)

Gene Model

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

AlphaFold

Q9DBL9

Predicted Effect

unknown
Transcript: ENSMUST00000035128
AA Change: V10E

Predicted Effect

unknown
Transcript: ENSMUST00000111497
AA Change: V10E

SMART Domains

Protein: ENSMUSP00000107123
Gene: ENSMUSG00000032540
AA Change: V10E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156520
AA Change: V10E

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

SMART Domains

Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: V10E

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

unknown
Transcript: ENSMUST00000175973
AA Change: V10E

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	A	T	1: 177,601,280 (GRCm39)		probably benign	Het
AI467606	A	T	7: 126,691,673 (GRCm39)	I83F	probably damaging	Het
Atn1	A	T	6: 124,723,923 (GRCm39)	W437R	unknown	Het
Atxn7l2	T	C	3: 108,116,290 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,734,936 (GRCm39)	F750S	possibly damaging	Het
B3gnt6	A	G	7: 97,842,821 (GRCm39)	S380P	probably benign	Het
Bod1l	T	C	5: 41,946,215 (GRCm39)	Q3020R	probably damaging	Het
Borcs6	A	T	11: 68,950,828 (GRCm39)	I69F	probably benign	Het
Brd7	T	A	8: 89,081,340 (GRCm39)	M170L	probably benign	Het
Ccdc191	T	A	16: 43,710,581 (GRCm39)		probably benign	Het
Cit	C	T	5: 116,064,534 (GRCm39)	T472I	possibly damaging	Het
Ddx25	G	T	9: 35,468,685 (GRCm39)	D57E	probably benign	Het
Dnah7a	A	T	1: 53,674,436 (GRCm39)	L447*	probably null	Het
Epb41l3	A	G	17: 69,554,641 (GRCm39)	D247G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etaa1	A	T	11: 17,890,254 (GRCm39)	V869E	probably damaging	Het
Exoc8	T	A	8: 125,622,769 (GRCm39)	I533F	probably benign	Het
Fam117a	A	G	11: 95,254,823 (GRCm39)		probably null	Het
Fam222a	C	T	5: 114,749,092 (GRCm39)	T96I	possibly damaging	Het
Farsa	C	T	8: 85,594,228 (GRCm39)	T326I	probably damaging	Het
Fkbp1b	T	A	12: 4,891,401 (GRCm39)	D12V	probably damaging	Het
Garin3	C	A	11: 46,295,695 (GRCm39)	Y22*	probably null	Het
Gc	C	T	5: 89,589,421 (GRCm39)		probably null	Het
Git2	T	C	5: 114,868,256 (GRCm39)	E705G	probably damaging	Het
Gm10318	G	A	10: 77,689,078 (GRCm39)	C128Y	unknown	Het
H3c3	C	A	13: 23,929,393 (GRCm39)	A30S	probably benign	Het
Hcar2	G	A	5: 124,002,571 (GRCm39)	R311*	probably null	Het
Hira	A	G	16: 18,746,261 (GRCm39)	Q468R	possibly damaging	Het
Hspa1l	T	C	17: 35,197,092 (GRCm39)	V377A	probably damaging	Het
Igkv2-137	T	A	6: 67,532,659 (GRCm39)	W14R	probably damaging	Het
Itga3	A	T	11: 94,953,391 (GRCm39)	L317Q	probably damaging	Het
Jade2	A	C	11: 51,715,906 (GRCm39)	L433W	probably damaging	Het
Kif21a	T	C	15: 90,840,559 (GRCm39)	T1186A	probably benign	Het
Krtap28-10	C	A	1: 83,019,894 (GRCm39)	C82F	unknown	Het
Ksr1	G	A	11: 78,931,709 (GRCm39)	T333M	probably damaging	Het
Msi1	T	C	5: 115,573,598 (GRCm39)	F132S	probably damaging	Het
Myo7b	C	A	18: 32,099,402 (GRCm39)	K1673N	probably null	Het
Myom3	T	A	4: 135,515,255 (GRCm39)	N716K		Het
Ndst4	G	A	3: 125,515,810 (GRCm39)	G312R	probably damaging	Het
Ndufaf2	A	G	13: 108,189,316 (GRCm39)	V144A	probably benign	Het
Omd	T	C	13: 49,743,576 (GRCm39)	S209P	possibly damaging	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or2t47	G	C	11: 58,442,209 (GRCm39)	N285K	probably damaging	Het
Or51b17	G	A	7: 103,542,816 (GRCm39)	T42I	probably benign	Het
Or51e1	T	A	7: 102,359,219 (GRCm39)	I251N	possibly damaging	Het
Or52a24	T	C	7: 103,381,220 (GRCm39)	I29T	probably damaging	Het
Or52e3	T	C	7: 102,869,393 (GRCm39)	L156P	possibly damaging	Het
Patl1	T	A	19: 11,898,760 (GRCm39)	Y152N	probably damaging	Het
Plaur	T	A	7: 24,164,577 (GRCm39)	M27K	probably benign	Het
Ppfia2	T	A	10: 106,694,439 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 44,990,100 (GRCm39)	V1142A	probably damaging	Het
Psg28	T	A	7: 18,156,981 (GRCm39)	N418I	probably damaging	Het
Ptprd	A	T	4: 75,863,251 (GRCm39)	F1237I	probably damaging	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rbms3	A	T	9: 116,524,886 (GRCm39)		probably null	Het
Rgs18	A	G	1: 144,629,566 (GRCm39)	V231A	probably benign	Het
Rnf112	T	C	11: 61,343,277 (GRCm39)	R156G	possibly damaging	Het
Rsad1	A	C	11: 94,439,010 (GRCm39)	V150G	probably damaging	Het
Rxrg	G	A	1: 167,462,005 (GRCm39)	V350I	possibly damaging	Het
Sash1	A	G	10: 8,626,808 (GRCm39)	I192T	possibly damaging	Het
Slc25a36	G	A	9: 96,961,259 (GRCm39)	T259I	probably benign	Het
Smarcd3	T	A	5: 24,798,986 (GRCm39)	E324V	probably null	Het
St3gal4	A	G	9: 34,966,944 (GRCm39)	V2A	possibly damaging	Het
Stk17b	A	C	1: 53,796,784 (GRCm39)	S328A	probably benign	Het
Tbrg1	A	G	9: 37,563,949 (GRCm39)	Y229H	probably damaging	Het
Tdg	A	G	10: 82,484,514 (GRCm39)	N409S	probably benign	Het
Terb1	T	C	8: 105,212,036 (GRCm39)	E315G	possibly damaging	Het
Tmem131	A	G	1: 36,867,228 (GRCm39)	F402L	probably benign	Het
Trav4-2	T	C	14: 53,656,190 (GRCm39)	I64T	probably benign	Het
Trav4-4-dv10	A	G	14: 53,921,574 (GRCm39)	T91A	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Zfp551	C	A	7: 12,156,559 (GRCm39)		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
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
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'- GCTGACCTTCCTTACCAGTG -3'
(R):5'- TTTCACAAAGTTTGCCAGGGC -3'

Sequencing Primer
(F):5'- ATGCGTGTCTGCGAGGC -3'
(R):5'- CACAAAGTTTGCCAGGGCTAGTG -3'

Posted On

2021-10-11