Mutagenetix > Incidental Mutation

Incidental Mutation 'R8023:Hibch'

617499

Institutional Source

Beutler Lab

Gene Symbol

Hibch

Ensembl Gene

ENSMUSG00000041426

Gene Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Synonyms

HIBYL-COA-H, 2610509I15Rik

MMRRC Submission

067462-MU

Accession Numbers

Essential gene?

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

Stock #

R8023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52884197-52960145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52899197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 30 (M30T)

Ref Sequence

ENSEMBL: ENSMUSP00000045606 (fasta)

Gene Model

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

AlphaFold

Q8QZS1

Predicted Effect

probably benign
Transcript: ENSMUST00000044478
AA Change: M30T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: M30T

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: M30T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: M30T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	G	17: 57,152,448 (GRCm39)	Y665H	probably damaging	Het
Acte1	T	C	7: 143,445,528 (GRCm39)	S192P	probably damaging	Het
Agbl4	T	A	4: 111,474,345 (GRCm39)	V378E	probably benign	Het
Card9	T	C	2: 26,247,327 (GRCm39)	D274G	probably benign	Het
Ccnc	T	C	4: 21,747,578 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,533,847 (GRCm39)	S843A	unknown	Het
Cux1	T	A	5: 136,402,251 (GRCm39)	I111F	probably damaging	Het
Fam24b	A	C	7: 130,927,869 (GRCm39)	S107A	probably benign	Het
Fndc7	C	T	3: 108,774,461 (GRCm39)	C599Y	probably damaging	Het
Gm3604	G	A	13: 62,517,683 (GRCm39)	A225V	probably damaging	Het
Grhl3	A	G	4: 135,277,640 (GRCm39)	V475A	probably benign	Het
H2ac20	A	G	3: 96,128,106 (GRCm39)	S19P	unknown	Het
Heg1	T	A	16: 33,550,895 (GRCm39)	V958E	possibly damaging	Het
Hk2	T	A	6: 82,705,790 (GRCm39)	M838L	probably benign	Het
Hpd	A	G	5: 123,314,297 (GRCm39)	F206S	probably damaging	Het
Il34	C	T	8: 111,469,284 (GRCm39)	C177Y	probably damaging	Het
Il6ra	A	G	3: 89,820,260 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,088,988 (GRCm39)	I2240T	probably damaging	Het
Med24	A	G	11: 98,609,321 (GRCm39)		probably null	Het
Mpz	A	G	1: 170,987,602 (GRCm39)	D246G	probably damaging	Het
Ncam1	C	A	9: 49,421,057 (GRCm39)	A753S	probably benign	Het
Ndufs2	A	T	1: 171,064,263 (GRCm39)	M375K	probably damaging	Het
Obox2	A	G	7: 15,131,145 (GRCm39)	K84E	possibly damaging	Het
Or4c31	A	G	2: 88,292,022 (GRCm39)	I132V	probably benign	Het
Or51k1	A	G	7: 103,661,006 (GRCm39)	I301T	probably damaging	Het
Or7e178	C	T	9: 20,225,545 (GRCm39)	V224I	probably benign	Het
Pds5a	A	T	5: 65,795,241 (GRCm39)	L665Q	probably damaging	Het
Prr29	A	G	11: 106,267,099 (GRCm39)	E38G	probably benign	Het
Ptpn3	G	C	4: 57,248,688 (GRCm39)	D215E	probably benign	Het
Ptprq	G	A	10: 107,488,477 (GRCm39)	Q987*	probably null	Het
Ranbp6	T	C	19: 29,789,222 (GRCm39)	S377G	possibly damaging	Het
Rps6ka1	A	T	4: 133,594,506 (GRCm39)	L168Q	probably damaging	Het
Sall1	A	G	8: 89,759,171 (GRCm39)	I311T	probably damaging	Het
Satb2	T	C	1: 56,930,390 (GRCm39)	Y211C	probably damaging	Het
Sis	T	A	3: 72,859,813 (GRCm39)	Y314F	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc6a20a	T	C	9: 123,489,657 (GRCm39)	N129D	probably damaging	Het
Slu7	G	A	11: 43,336,975 (GRCm39)	R572Q	probably benign	Het
Tbx6	C	T	7: 126,382,031 (GRCm39)	A123V	possibly damaging	Het
Tcn2	A	T	11: 3,877,579 (GRCm39)	I23K	possibly damaging	Het
Tiparp	A	G	3: 65,439,224 (GRCm39)	D180G	probably benign	Het
Tln2	A	G	9: 67,131,346 (GRCm39)	L1400P	probably damaging	Het
Ttf2	T	C	3: 100,863,571 (GRCm39)	T588A	probably benign	Het
Ttn	A	G	2: 76,769,564 (GRCm39)	V2741A	unknown	Het
Txlna	A	T	4: 129,533,278 (GRCm39)	S83R	probably damaging	Het
Vmn2r16	C	T	5: 109,488,272 (GRCm39)	Q382*	probably null	Het
Vmn2r76	A	G	7: 85,879,028 (GRCm39)	V424A	probably benign	Het
Zfc3h1	T	A	10: 115,256,553 (GRCm39)	L1508I	probably damaging	Het
Zfp189	G	A	4: 49,530,312 (GRCm39)	G472R	probably damaging	Het
Zfp462	G	A	4: 55,073,106 (GRCm39)		probably null	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
R6365:Hibch	UTSW	1	52,908,096 (GRCm39)	splice site	probably null
R7202:Hibch	UTSW	1	52,892,874 (GRCm39)	splice site	probably null
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'- GGTTTGCTTGGAGACTCCTC -3'
(R):5'- ACGGGAAAGCATCATTGGTGC -3'

Sequencing Primer
(F):5'- CTCCATGTGTTTAATCTGAGAAGCC -3'
(R):5'- CCAGGAATGTTCTCCTACAATGG -3'

Posted On

2020-01-23