Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Hibch'

64534

Institutional Source

Beutler Lab

Gene Symbol

Hibch

Ensembl Gene

ENSMUSG00000041426

Gene Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Synonyms

HIBYL-COA-H, 2610509I15Rik

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R0033 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

52884197-52960145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52944610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 296 (K296R)

Ref Sequence

ENSEMBL: ENSMUSP00000124976 (fasta)

Gene Model

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

AlphaFold

Q8QZS1

Predicted Effect

probably null
Transcript: ENSMUST00000044478
AA Change: K296R

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: K296R

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
AA Change: K296R

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: K296R

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: ENSMUST00000162609

Meta Mutation Damage Score

0.1323

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

100% (81/81)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,115,794 (GRCm39)	F110L	probably damaging	Het
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Ankib1	A	C	5: 3,819,588 (GRCm39)	D110E	possibly damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
Cacna1d	T	A	14: 29,827,446 (GRCm39)	Q993L	probably damaging	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Emilin2	G	T	17: 71,582,009 (GRCm39)	T239K	probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Fbxl4	T	C	4: 22,377,017 (GRCm39)	V151A	probably damaging	Het
Fer1l4	G	A	2: 155,866,026 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,424,710 (GRCm39)	D310G	probably benign	Het
Gstk1	A	G	6: 42,223,737 (GRCm39)		probably benign	Het
Hapln1	A	T	13: 89,749,932 (GRCm39)	Q159L	probably benign	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kdm7a	A	T	6: 39,142,131 (GRCm39)	Y382*	probably null	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Klc4	A	T	17: 46,946,359 (GRCm39)	C489S	probably damaging	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Macc1	T	A	12: 119,410,076 (GRCm39)	N281K	probably benign	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Myoc	G	A	1: 162,476,010 (GRCm39)	G238E	probably damaging	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Obscn	A	G	11: 58,885,572 (GRCm39)		probably benign	Het
Oplah	T	A	15: 76,181,334 (GRCm39)	Q1202L	probably benign	Het
Or5p62	G	T	7: 107,771,134 (GRCm39)	D272E	probably benign	Het
Or9s23	A	G	1: 92,500,982 (GRCm39)	T30A	probably benign	Het
Ppargc1b	G	A	18: 61,440,765 (GRCm39)	R718W	probably damaging	Het
Pramel19	A	T	4: 101,798,881 (GRCm39)	Y284F	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rnf225	T	C	7: 12,662,085 (GRCm39)	L88P	probably damaging	Het
Slc12a1	A	G	2: 125,055,929 (GRCm39)	D820G	probably benign	Het
Slc12a4	G	T	8: 106,674,111 (GRCm39)		probably benign	Het
Slx4	C	T	16: 3,805,864 (GRCm39)	A72T	probably benign	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Tdp1	C	T	12: 99,901,311 (GRCm39)	T531I	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Trav6n-5	T	A	14: 53,342,368 (GRCm39)	M14K	probably benign	Het
Ttn	T	A	2: 76,572,624 (GRCm39)	I26090F	probably damaging	Het
Tut1	G	T	19: 8,940,123 (GRCm39)	R369L	probably benign	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Unc13d	T	C	11: 115,959,991 (GRCm39)	T597A	probably benign	Het
Vmn1r58	A	T	7: 5,413,387 (GRCm39)	I281K	probably damaging	Het
Vmn1r59	A	G	7: 5,457,433 (GRCm39)	V109A	probably benign	Het
Xdh	T	A	17: 74,214,627 (GRCm39)	M773L	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly 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
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
R6365:Hibch	UTSW	1	52,908,096 (GRCm39)	splice site	probably null
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'- ACCTTGAAAAGTCTTCTCATTGCCGT -3'
(R):5'- GGTTCTCAAAATTCAGCAGGCAGACA -3'

Sequencing Primer
(F):5'- CATTGCCGTGGGGCTTG -3'
(R):5'- caggagaggagaaaggacaag -3'

Posted On

2013-08-06