Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03327:Hibch'

416708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hibch

Ensembl Gene

ENSMUSG00000041426

Gene Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Synonyms

2610509I15Rik, HIBYL-COA-H

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

IGL03327

Quality Score

Status

Chromosome

Chromosomal Location

52844929-52920986 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 52920380 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000050567] [ENSMUST00000114492] [ENSMUST00000114493] [ENSMUST00000159352] [ENSMUST00000186266] [ENSMUST00000190726] [ENSMUST00000190831] [ENSMUST00000191441]

Predicted Effect

probably benign
Transcript: ENSMUST00000044478

SMART Domains

Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426

Domain	Start	End	E-Value	Type
Pfam:ECH_1	43	282	6.6e-34	PFAM
Pfam:ECH_2	45	375	3.9e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050567

SMART Domains

Protein: ENSMUSP00000055413
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114492

SMART Domains

Protein: ENSMUSP00000110136
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114493

SMART Domains

Protein: ENSMUSP00000110137
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:SmAKAP	1	100	2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159352

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426

Domain	Start	End	E-Value	Type
Pfam:ECH	44	299	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186266

SMART Domains

Protein: ENSMUSP00000140273
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190726

SMART Domains

Protein: ENSMUSP00000140530
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190831

SMART Domains

Protein: ENSMUSP00000140160
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191441

SMART Domains

Protein: ENSMUSP00000139750
Gene: ENSMUSG00000043629

Domain	Start	End	E-Value	Type
Pfam:DUF4565	1	101	1.1e-40	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,761,670	N79S	probably damaging	Het
Adcy8	T	C	15: 64,920,267	Y280C	probably damaging	Het
Anapc1	T	C	2: 128,623,934	T1647A	probably benign	Het
Ano3	T	C	2: 110,697,178	I562V	possibly damaging	Het
Ash1l	C	T	3: 89,023,083	P1956S	probably benign	Het
Cd160	C	T	3: 96,805,533		probably null	Het
Chd3	G	T	11: 69,350,186	A1527E	probably damaging	Het
Clcn1	C	T	6: 42,311,219	T797I	probably benign	Het
Cntnap3	G	A	13: 64,887,768	Q44*	probably null	Het
Cntnap4	A	G	8: 112,773,576	D500G	probably benign	Het
Col6a6	T	C	9: 105,767,234	D1285G	possibly damaging	Het
Cr2	A	T	1: 195,169,759	V94E	probably damaging	Het
Dcaf1	T	C	9: 106,858,624	S924P	possibly damaging	Het
Eif5b	T	C	1: 38,041,691		probably benign	Het
Fat1	A	C	8: 44,950,468	K85N	probably damaging	Het
Fnip2	T	C	3: 79,518,081	E69G	probably damaging	Het
Fzr1	T	C	10: 81,369,184	T300A	probably benign	Het
Galc	A	G	12: 98,207,476		probably benign	Het
Gm17079	T	C	14: 51,692,963	T142A	possibly damaging	Het
Hmmr	A	G	11: 40,715,415	C243R	probably damaging	Het
Il25	T	C	14: 54,935,360		probably benign	Het
Kif5b	G	A	18: 6,222,767	R355W	probably damaging	Het
Kifc3	C	T	8: 95,108,432	D242N	probably damaging	Het
Lig1	T	G	7: 13,303,855	I677S	probably damaging	Het
Lrig1	G	T	6: 94,606,123	A1004E	probably benign	Het
Nras	A	G	3: 103,059,024	T35A	probably damaging	Het
Nt5c1b	C	T	12: 10,374,861	Q136*	probably null	Het
Olfr1046	C	T	2: 86,217,274	W145*	probably null	Het
Olfr1278	A	T	2: 111,292,462	N65Y	probably damaging	Het
Olfr815	T	G	10: 129,902,582	I43L	possibly damaging	Het
Plcb3	A	G	19: 6,955,052	F1080L	probably benign	Het
Plpp2	T	C	10: 79,530,984		probably null	Het
Ptpre	G	A	7: 135,672,822		probably null	Het
Scn3a	G	A	2: 65,536,672	A2V	probably damaging	Het
Sh3bp4	C	A	1: 89,144,163	Y244*	probably null	Het
Trip11	A	T	12: 101,883,418	N1462K	possibly damaging	Het
Ttc21b	T	C	2: 66,237,848	D278G	possibly damaging	Het
Virma	A	G	4: 11,518,984	T694A	probably benign	Het
Wdr35	T	C	12: 8,978,694		probably benign	Het
Xdh	T	C	17: 73,916,792	E535G	probably benign	Het

Other mutations in Hibch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Hibch	APN	1	52885190	splice site	probably benign
IGL00722:Hibch	APN	1	52901320	missense	probably damaging	0.96
IGL03130:Hibch	APN	1	52885151	missense	possibly damaging	0.88
IGL03346:Hibch	APN	1	52920380	unclassified	probably benign
R0033:Hibch	UTSW	1	52905451	missense	probably null	0.60
R0033:Hibch	UTSW	1	52905451	missense	probably null	0.60
R0494:Hibch	UTSW	1	52902896	missense	possibly damaging	0.73
R1853:Hibch	UTSW	1	52901335	critical splice donor site	probably null
R4838:Hibch	UTSW	1	52885178	missense	possibly damaging	0.55
R5239:Hibch	UTSW	1	52865608	missense	probably damaging	1.00
R5531:Hibch	UTSW	1	52845069	utr 5 prime	probably benign
R5583:Hibch	UTSW	1	52901247	missense	probably damaging	1.00
R5809:Hibch	UTSW	1	52853700	missense	probably benign	0.16
R6246:Hibch	UTSW	1	52904642	missense	probably damaging	0.99
R6365:Hibch	UTSW	1	52868937	synonymous	probably null
R7202:Hibch	UTSW	1	52853715	splice site	probably null
RF010:Hibch	UTSW	1	52913732	missense	probably benign	0.01

Posted On

2016-08-02