Mutagenetix > Incidental Mutation

Incidental Mutation 'R4838:Hibch'

371483

Institutional Source

Beutler Lab

Gene Symbol

Hibch

Ensembl Gene

ENSMUSG00000041426

Gene Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Synonyms

HIBYL-COA-H, 2610509I15Rik

Accession Numbers

Essential gene?

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

Stock #

R4838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52884197-52960145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52924337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 171 (I171V)

Ref Sequence

ENSEMBL: ENSMUSP00000045606 (fasta)

Gene Model

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

AlphaFold

Q8QZS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044478
AA Change: I171V

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: I171V

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: ENSMUST00000159352
AA Change: I171V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: I171V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,944,523 (GRCm39)	V386A	probably benign	Het
Adk	G	A	14: 21,419,154 (GRCm39)	A247T	probably damaging	Het
Ankrd27	T	A	7: 35,291,231 (GRCm39)	L9Q	possibly damaging	Het
Atad2	A	G	15: 57,966,679 (GRCm39)	L638P	probably damaging	Het
Atf7ip	T	A	6: 136,573,489 (GRCm39)	D1009E	probably benign	Het
Bend7	A	T	2: 4,749,133 (GRCm39)	K83N	probably damaging	Het
Bicc1	C	T	10: 70,781,146 (GRCm39)	D562N	possibly damaging	Het
Calcrl	T	A	2: 84,181,549 (GRCm39)	N200Y	probably damaging	Het
Ccdc125	C	A	13: 100,814,453 (GRCm39)	A11E	possibly damaging	Het
Cd5l	A	G	3: 87,273,258 (GRCm39)	T76A	probably benign	Het
Cdhr5	A	T	7: 140,853,644 (GRCm39)	I2N	probably damaging	Het
Cdk10	C	T	8: 123,957,353 (GRCm39)	A230V	probably damaging	Het
Cep128	T	C	12: 90,966,319 (GRCm39)		probably benign	Het
Cep131	T	C	11: 119,966,982 (GRCm39)	N186D	probably damaging	Het
Cfhr4	T	A	1: 139,661,181 (GRCm39)	D556V	probably damaging	Het
Cog7	G	T	7: 121,570,604 (GRCm39)	P168Q	probably damaging	Het
Col28a1	T	A	6: 8,014,559 (GRCm39)	M949L	probably benign	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Cpa1	A	G	6: 30,639,515 (GRCm39)	E18G	possibly damaging	Het
Csmd2	A	G	4: 128,411,542 (GRCm39)	H2520R	probably benign	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dpm1	G	A	2: 168,052,456 (GRCm39)	T260I	probably damaging	Het
Dtx3	A	T	10: 127,027,176 (GRCm39)		probably null	Het
Eepd1	T	C	9: 25,500,756 (GRCm39)	V401A	possibly damaging	Het
Ehhadh	A	G	16: 21,581,952 (GRCm39)	S347P	possibly damaging	Het
Elp3	A	G	14: 65,785,313 (GRCm39)		probably null	Het
Enam	C	T	5: 88,640,967 (GRCm39)	Q210*	probably null	Het
Epha1	C	T	6: 42,340,750 (GRCm39)	R607H	probably benign	Het
Erich6	A	G	3: 58,544,251 (GRCm39)	I112T	probably benign	Het
F830045P16Rik	A	G	2: 129,302,470 (GRCm39)	V374A	possibly damaging	Het
Fam171a2	C	A	11: 102,329,511 (GRCm39)	R416L	possibly damaging	Het
Fbn1	T	C	2: 125,214,319 (GRCm39)	N764S	probably benign	Het
Fip1l1	C	T	5: 74,752,600 (GRCm39)	T469I	probably damaging	Het
Flad1	G	A	3: 89,313,217 (GRCm39)	R342C	probably damaging	Het
Fzd3	A	G	14: 65,477,269 (GRCm39)	V95A	probably benign	Het
Garem1	T	C	18: 21,280,950 (GRCm39)	T469A	probably benign	Het
Gm17093	A	G	14: 44,755,805 (GRCm39)	Y24C	unknown	Het
Grap2	T	C	15: 80,522,762 (GRCm39)	V96A	possibly damaging	Het
Greb1	A	T	12: 16,734,361 (GRCm39)		probably null	Het
Grid2ip	A	T	5: 143,374,530 (GRCm39)	K913*	probably null	Het
Gzmk	T	C	13: 113,309,555 (GRCm39)	D126G	probably damaging	Het
Hipk2	G	T	6: 38,795,339 (GRCm39)	T310K	possibly damaging	Het
Hk3	T	C	13: 55,154,231 (GRCm39)	Y815C	probably damaging	Het
Hps5	A	T	7: 46,437,778 (GRCm39)	V99E	probably damaging	Het
Hspg2	A	G	4: 137,268,977 (GRCm39)	H2203R	possibly damaging	Het
Il12rb2	A	G	6: 67,286,121 (GRCm39)	V108A	probably damaging	Het
Il6st	C	T	13: 112,627,044 (GRCm39)	R279*	probably null	Het
Kdm2a	A	C	19: 4,375,054 (GRCm39)	S692R	probably benign	Het
Kif13a	T	C	13: 46,980,224 (GRCm39)	K176R	probably damaging	Het
Kif5b	T	C	18: 6,216,869 (GRCm39)	K485E	probably damaging	Het
Ktn1	C	T	14: 47,963,413 (GRCm39)	R1111*	probably null	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Mad1l1	G	A	5: 140,286,017 (GRCm39)	Q293*	probably null	Het
Man1b1	A	T	2: 25,235,487 (GRCm39)	I338F	possibly damaging	Het
Marchf1	G	T	8: 66,921,015 (GRCm39)	V225L	probably damaging	Het
Matcap2	A	T	9: 22,335,673 (GRCm39)	D97V	probably damaging	Het
Mrpl3	A	G	9: 104,934,231 (GRCm39)	D118G	probably damaging	Het
Nomo1	A	T	7: 45,733,139 (GRCm39)	Q1209L	unknown	Het
Nrcam	A	G	12: 44,620,802 (GRCm39)	E949G	probably damaging	Het
Olfm5	T	G	7: 103,803,572 (GRCm39)	N297T	probably damaging	Het
Or51h7	T	A	7: 102,591,453 (GRCm39)	L110F	probably damaging	Het
Pcdh7	A	T	5: 57,878,146 (GRCm39)	N567I	probably damaging	Het
Pkn1	A	G	8: 84,404,595 (GRCm39)	L495P	probably damaging	Het
Pkp1	T	C	1: 135,810,326 (GRCm39)	S415G	probably damaging	Het
Pou2f1	T	A	1: 165,744,492 (GRCm39)	Q53L	probably null	Het
Pramel26	G	A	4: 143,537,375 (GRCm39)	Q319*	probably null	Het
Prkce	A	G	17: 86,937,511 (GRCm39)	K648R	probably benign	Het
Ptprh	G	A	7: 4,576,429 (GRCm39)	T277I	possibly damaging	Het
Rpl31	C	T	1: 39,410,048 (GRCm39)	R83C	probably benign	Het
Rpusd3	G	A	6: 113,393,837 (GRCm39)	Q194*	probably null	Het
Sgsm1	T	A	5: 113,430,492 (GRCm39)	N298Y	probably damaging	Het
She	G	A	3: 89,758,946 (GRCm39)	G355D	probably benign	Het
Shld2	A	G	14: 33,990,582 (GRCm39)	V108A	probably benign	Het
Snx11	C	T	11: 96,665,284 (GRCm39)	E9K	possibly damaging	Het
Soat1	C	A	1: 156,260,507 (GRCm39)	A444S	probably benign	Het
Sox6	T	C	7: 115,085,897 (GRCm39)	Y690C	probably damaging	Het
Spata13	T	A	14: 60,970,628 (GRCm39)	F10I	probably benign	Het
St18	C	A	1: 6,873,129 (GRCm39)	T288K	probably benign	Het
Tifa	C	T	3: 127,590,235 (GRCm39)	S2F	probably damaging	Het
Tmem232	A	T	17: 65,737,883 (GRCm39)	S392R	probably benign	Het
Tmtc3	T	C	10: 100,302,082 (GRCm39)	N289S	probably damaging	Het
Tpo	A	G	12: 30,142,633 (GRCm39)	F697S	probably damaging	Het
Trp53	A	G	11: 69,478,456 (GRCm39)	T122A	probably damaging	Het
Trps1	A	C	15: 50,690,712 (GRCm39)	I10S	probably benign	Het
Tubgcp5	C	T	7: 55,443,933 (GRCm39)		probably benign	Het
Unc13c	T	G	9: 73,839,354 (GRCm39)	Y499S	possibly damaging	Het
Unc45a	C	A	7: 79,982,783 (GRCm39)	D381Y	probably damaging	Het
Upf1	G	C	8: 70,792,018 (GRCm39)	H402Q	probably benign	Het
Uroc1	A	T	6: 90,326,174 (GRCm39)	I510F	possibly damaging	Het
Usp15	A	G	10: 122,963,662 (GRCm39)	F589L	probably damaging	Het
Vmn2r76	T	C	7: 85,874,733 (GRCm39)	Y748C	probably damaging	Het
Wwp1	T	C	4: 19,662,143 (GRCm39)	N151D	probably benign	Het
Zbtb40	A	T	4: 136,728,527 (GRCm39)	S439T	probably benign	Het
Zbtb6	A	T	2: 37,318,728 (GRCm39)	L400*	probably null	Het
Zfp125	C	T	12: 20,949,961 (GRCm39)		noncoding transcript	Het
Zmynd8	A	C	2: 165,681,954 (GRCm39)	Y183*	probably null	Het
Zpld2	A	G	4: 133,920,410 (GRCm39)	V585A	probably benign	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
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'- CTTGCAGTCCACATGCTGAAAC -3'
(R):5'- TCCCGAGCTAACACAAAGTGTC -3'

Sequencing Primer
(F):5'- GTCCACATGCTGAAACAAATTACTG -3'
(R):5'- CGTGGAGTCCTTTGTCTTC -3'

Posted On

2016-03-01