Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Abhd5'

30191

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

038569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122180681-122210589 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122197211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 133 (F133L)

Ref Sequence

ENSEMBL: ENSMUSP00000122274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035128] [ENSMUST00000111497] [ENSMUST00000154161] [ENSMUST00000156520] [ENSMUST00000175973]

AlphaFold

Q9DBL9

Predicted Effect

probably benign
Transcript: ENSMUST00000035128

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000154161
AA Change: F90L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122939
Gene: ENSMUSG00000032540
AA Change: F90L

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	36	127	1.4e-8	PFAM
Pfam:Abhydrolase_6	37	127	1.5e-18	PFAM
Pfam:Abhydrolase_1	61	127	2.7e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156520
AA Change: F133L

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122274
Gene: ENSMUSG00000032540
AA Change: F133L

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: ENSMUST00000216775

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Ciz1	G	C	2: 32,267,375 (GRCm39)		probably null	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Krt4	G	A	15: 101,833,081 (GRCm39)	R9C	possibly damaging	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,381 (GRCm39)	V344A	probably damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,340,273 (GRCm39)	Y232H	probably damaging	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,659,756 (GRCm39)	S186A	probably benign	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Trp73	A	G	4: 154,148,406 (GRCm39)	I336T	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	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
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
R9625:Abhd5	UTSW	9	122,208,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGTCCCCTGCACTTACAAGAAAG -3'
(R):5'- TGAGGCTCATCGGTAACCACCAAG -3'

Sequencing Primer
(F):5'- CAGAATATGGACGCTGATGTTCTC -3'
(R):5'- TCGGTAACCACCAAGAACGG -3'

Posted On

2013-04-24