Mutagenetix > Incidental Mutation

Incidental Mutation 'R6365:Hibch'

512613

Institutional Source

Beutler Lab

Gene Symbol

Hibch

Ensembl Gene

ENSMUSG00000041426

Gene Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Synonyms

HIBYL-COA-H, 2610509I15Rik

MMRRC Submission

044515-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R6365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52884197-52960145 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 52908096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044478] [ENSMUST00000159352]

AlphaFold

Q8QZS1

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000159352

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162523

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,330,510 (GRCm39)	R1235S	probably benign	Het
Abca9	T	A	11: 110,036,481 (GRCm39)	I543F	possibly damaging	Het
Acot6	A	G	12: 84,156,186 (GRCm39)	E378G	probably benign	Het
Adam30	T	C	3: 98,068,350 (GRCm39)	L61S	probably damaging	Het
Agap3	T	A	5: 24,679,983 (GRCm39)	L227Q	probably benign	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Atp2a2	A	G	5: 122,599,979 (GRCm39)	Y497H	probably benign	Het
Bace1	C	T	9: 45,765,974 (GRCm39)	Q17*	probably null	Het
Calcr	T	C	6: 3,711,455 (GRCm39)	I189V	probably benign	Het
Cd48	A	T	1: 171,509,732 (GRCm39)	Q24L	probably null	Het
Cnga1	T	C	5: 72,762,288 (GRCm39)	I409V	probably benign	Het
Ctsd	G	A	7: 141,939,314 (GRCm39)	T37M	probably benign	Het
Cyp2c29	T	C	19: 39,296,198 (GRCm39)	S171P	probably damaging	Het
Dnaaf11	A	T	15: 66,325,983 (GRCm39)	S197R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd2	A	T	9: 49,318,249 (GRCm39)	N397I	probably damaging	Het
Dst	A	G	1: 34,231,008 (GRCm39)	E3045G	probably damaging	Het
Dzip3	T	A	16: 48,751,636 (GRCm39)	R764S	probably damaging	Het
Efcab3	A	G	11: 104,815,412 (GRCm39)	E3247G	unknown	Het
Exosc10	T	C	4: 148,645,562 (GRCm39)	V114A	probably benign	Het
Fam234a	C	A	17: 26,439,429 (GRCm39)	E32*	probably null	Het
Fbxw11	C	A	11: 32,670,623 (GRCm39)	D162E	possibly damaging	Het
Fcho2	A	T	13: 98,926,367 (GRCm39)	M72K	probably benign	Het
Fech	T	C	18: 64,591,251 (GRCm39)	N391S	probably benign	Het
Foxp2	T	C	6: 15,286,684 (GRCm39)	L58P	probably damaging	Het
Gdi2	A	G	13: 3,615,093 (GRCm39)	D430G	possibly damaging	Het
Grm8	C	T	6: 27,363,226 (GRCm39)	C763Y	probably damaging	Het
H2bc6	C	T	13: 23,769,641 (GRCm39)	R100H	probably benign	Het
Ifi44l	C	T	3: 151,467,142 (GRCm39)	V63I	unknown	Het
Igf1r	G	T	7: 67,839,798 (GRCm39)	A702S	probably benign	Het
Kctd13	G	A	7: 126,529,862 (GRCm39)	R101Q	probably damaging	Het
Klhl33	T	C	14: 51,129,294 (GRCm39)	D645G	probably benign	Het
Mylk	A	G	16: 34,680,961 (GRCm39)	T74A	probably benign	Het
Myo1f	A	G	17: 33,805,090 (GRCm39)	S453G	probably benign	Het
Naxe	A	G	3: 87,965,298 (GRCm39)	V105A	probably damaging	Het
Nid2	A	G	14: 19,853,201 (GRCm39)	Y1140C	probably damaging	Het
Nlrp12	T	C	7: 3,288,518 (GRCm39)	T665A	probably benign	Het
Or51l4	T	A	7: 103,404,402 (GRCm39)	H130L	probably benign	Het
Otud7b	T	G	3: 96,062,567 (GRCm39)	I602S	probably benign	Het
Pakap	G	T	4: 57,709,675 (GRCm39)	G207*	probably null	Het
Papolg	T	C	11: 23,832,290 (GRCm39)	D166G	probably damaging	Het
Pbx4	T	G	8: 70,324,857 (GRCm39)		probably null	Het
Pdcd4	T	C	19: 53,910,564 (GRCm39)		probably null	Het
Pde2a	C	T	7: 101,159,570 (GRCm39)	T800I	probably damaging	Het
Polk	A	T	13: 96,620,517 (GRCm39)	V582E	probably damaging	Het
Prss40	A	G	1: 34,591,598 (GRCm39)		probably benign	Het
Robo4	G	T	9: 37,322,008 (GRCm39)	R597L	probably benign	Het
Scg2	T	A	1: 79,413,017 (GRCm39)	I529F	probably benign	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sowahc	T	C	10: 59,059,349 (GRCm39)	L495P	probably damaging	Het
Trf	A	G	9: 103,099,327 (GRCm39)	V324A	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vip	C	T	10: 5,594,021 (GRCm39)	R125*	probably null	Het
Vmn1r159	T	A	7: 22,542,826 (GRCm39)	T69S	probably damaging	Het
Vmn1r202	A	T	13: 22,686,374 (GRCm39)	F14L	probably benign	Het
Vmn1r53	T	C	6: 90,201,241 (GRCm39)	N28D	probably damaging	Het
Vmn2r58	T	A	7: 41,513,607 (GRCm39)	K345N	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb8os	A	T	4: 129,236,945 (GRCm39)	N120I	possibly damaging	Het
Zfp959	T	A	17: 56,204,785 (GRCm39)	L274H	probably damaging	Het

Other mutations in Hibch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Hibch	APN	1	52,924,349 (GRCm39)	splice site	probably benign
IGL00722:Hibch	APN	1	52,940,479 (GRCm39)	missense	probably damaging	0.96
IGL03130:Hibch	APN	1	52,924,310 (GRCm39)	missense	possibly damaging	0.88
IGL03327:Hibch	APN	1	52,959,539 (GRCm39)	unclassified	probably benign
IGL03346:Hibch	APN	1	52,959,539 (GRCm39)	unclassified	probably benign
R0033:Hibch	UTSW	1	52,944,610 (GRCm39)	missense	probably null	0.60
R0033:Hibch	UTSW	1	52,944,610 (GRCm39)	missense	probably null	0.60
R0494:Hibch	UTSW	1	52,942,055 (GRCm39)	missense	possibly damaging	0.73
R1853:Hibch	UTSW	1	52,940,494 (GRCm39)	critical splice donor site	probably null
R4838:Hibch	UTSW	1	52,924,337 (GRCm39)	missense	possibly damaging	0.55
R5239:Hibch	UTSW	1	52,904,767 (GRCm39)	missense	probably damaging	1.00
R5531:Hibch	UTSW	1	52,884,228 (GRCm39)	utr 5 prime	probably benign
R5583:Hibch	UTSW	1	52,940,406 (GRCm39)	missense	probably damaging	1.00
R5809:Hibch	UTSW	1	52,892,859 (GRCm39)	missense	probably benign	0.16
R6246:Hibch	UTSW	1	52,943,801 (GRCm39)	missense	probably damaging	0.99
R7202:Hibch	UTSW	1	52,892,874 (GRCm39)	splice site	probably null
R8023:Hibch	UTSW	1	52,899,197 (GRCm39)	missense	probably benign	0.00
R8240:Hibch	UTSW	1	52,940,494 (GRCm39)	critical splice donor site	probably null
R9028:Hibch	UTSW	1	52,892,868 (GRCm39)	missense	possibly damaging	0.94
R9293:Hibch	UTSW	1	52,952,986 (GRCm39)	missense	probably damaging	1.00
RF010:Hibch	UTSW	1	52,952,891 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTTAACGCACAGCTGGGTATGTG -3'
(R):5'- TGGGTTAAAGAATCTAAAGTGCTCC -3'

Sequencing Primer
(F):5'- CACAGCTGGGTATGTGGCCTATAAG -3'
(R):5'- AAGTGCTCCAATACAATTTATATCCC -3'

Posted On

2018-04-27