Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Hibch'

686846

Institutional Source

Beutler Lab

Gene Symbol

Hibch

Ensembl Gene

ENSMUSG00000041426

Gene Name

3-hydroxyisobutyryl-Coenzyme A hydrolase

Synonyms

HIBYL-COA-H, 2610509I15Rik

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

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

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52884197-52960145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52892868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 26 (L26P)

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: L26P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045606
Gene: ENSMUSG00000041426
AA Change: L26P

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 damaging
Transcript: ENSMUST00000159352
AA Change: L26P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124976
Gene: ENSMUSG00000041426
AA Change: L26P

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,023,977 (GRCm39)	V1066A	probably damaging	Het
Abca5	T	A	11: 110,188,904 (GRCm39)	H851L	probably damaging	Het
Actn2	T	C	13: 12,315,864 (GRCm39)	I218M	possibly damaging	Het
Afmid	G	A	11: 117,727,489 (GRCm39)	E338K	probably benign	Het
Amer3	G	A	1: 34,627,758 (GRCm39)	V666I	probably benign	Het
Apol7b	A	G	15: 77,307,616 (GRCm39)	V293A	probably damaging	Het
Bag6	T	A	17: 35,363,130 (GRCm39)	S657T	probably benign	Het
Btaf1	T	C	19: 36,946,508 (GRCm39)	L438P	probably damaging	Het
Cdc20	T	C	4: 118,293,757 (GRCm39)	E126G	probably benign	Het
Cep97	C	T	16: 55,739,915 (GRCm39)	W248*	probably null	Het
Cfap69	A	T	5: 5,696,958 (GRCm39)	S113T	probably benign	Het
Cgrrf1	C	A	14: 47,091,200 (GRCm39)	D241E	probably benign	Het
Cnksr1	T	C	4: 133,960,608 (GRCm39)	T280A	possibly damaging	Het
Cox4i1	T	A	8: 121,398,022 (GRCm39)		probably benign	Het
Cpm	T	A	10: 117,519,414 (GRCm39)	F441I	probably benign	Het
Cs	A	C	10: 128,188,952 (GRCm39)	M154L		Het
Dmrta1	T	A	4: 89,579,914 (GRCm39)	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,560,297 (GRCm39)	T2125A	probably benign	Het
Dock10	A	T	1: 80,584,012 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,236,819 (GRCm39)	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,822,969 (GRCm39)	Y225C	probably damaging	Het
Elapor1	G	A	3: 108,370,819 (GRCm39)	T687I	probably benign	Het
F7	T	C	8: 13,076,087 (GRCm39)	L10P	possibly damaging	Het
Faf1	C	A	4: 109,748,105 (GRCm39)	T470K	possibly damaging	Het
Fam83h	A	T	15: 75,875,738 (GRCm39)	L533Q	possibly damaging	Het
Far1	T	A	7: 113,146,629 (GRCm39)	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,306,967 (GRCm39)	Y219H	probably damaging	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Gaa	T	A	11: 119,161,207 (GRCm39)	D83E	probably benign	Het
Grm2	A	G	9: 106,528,384 (GRCm39)	S167P	possibly damaging	Het
H1f11-ps	T	C	19: 47,159,129 (GRCm39)	K149E	unknown	Het
Hspa9	T	C	18: 35,075,084 (GRCm39)	E415G	probably damaging	Het
Ipo4	T	C	14: 55,866,408 (GRCm39)	Y757C	probably damaging	Het
Itk	T	A	11: 46,235,710 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,416,092 (GRCm39)	P1671S	probably benign	Het
Kif13a	G	A	13: 46,951,841 (GRCm39)	P811S	probably damaging	Het
Kif23	T	C	9: 61,828,341 (GRCm39)	E857G	probably damaging	Het
Kif2b	A	G	11: 91,468,011 (GRCm39)	S91P	probably benign	Het
Letm1	G	T	5: 33,909,847 (GRCm39)	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,388,799 (GRCm39)	M247K		Het
Mga	A	G	2: 119,778,070 (GRCm39)	I1872V	probably benign	Het
Mmp15	A	T	8: 96,096,316 (GRCm39)	N369I	probably benign	Het
Myo3a	T	A	2: 22,490,099 (GRCm39)	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ncoa2	A	G	1: 13,223,079 (GRCm39)	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,360,992 (GRCm39)	C254*	probably null	Het
Nlrp1a	C	T	11: 71,013,819 (GRCm39)	R477H	probably benign	Het
Nox3	T	A	17: 3,716,185 (GRCm39)	T407S	possibly damaging	Het
Or1x6	C	T	11: 50,939,660 (GRCm39)	T242M	probably damaging	Het
Or3a1d	T	C	11: 74,237,747 (GRCm39)	Y101C	probably damaging	Het
Or4c15b	T	A	2: 89,112,676 (GRCm39)	D267V	probably damaging	Het
Pfkp	T	A	13: 6,655,725 (GRCm39)	I303F	probably damaging	Het
Pgc	T	C	17: 48,043,983 (GRCm39)	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,999,373 (GRCm39)	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,701,098 (GRCm39)	N1613D	probably damaging	Het
Prb1b	C	T	6: 132,289,618 (GRCm39)	E69K	unknown	Het
Rapgef2	A	G	3: 78,981,651 (GRCm39)	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,807,032 (GRCm39)	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,109,605 (GRCm39)	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,765,612 (GRCm39)	I334N	probably damaging	Het
Slk	T	G	19: 47,608,512 (GRCm39)	N488K	probably benign	Het
Smarca5	T	C	8: 81,440,642 (GRCm39)	I607M	probably damaging	Het
Sspo	G	A	6: 48,473,087 (GRCm39)	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199 (GRCm39)	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,872,111 (GRCm39)	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,242,650 (GRCm39)	H78R	probably benign	Het
Trav14-3	C	A	14: 54,000,887 (GRCm39)	Q33K	unknown	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,066,744 (GRCm39)		probably null	Het
Vmn1r224	T	G	17: 20,640,112 (GRCm39)	S230A	possibly damaging	Het
Wee2	A	T	6: 40,421,189 (GRCm39)	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,796,934 (GRCm39)	E279G	probably damaging	Het
Zfp623	T	A	15: 75,819,349 (GRCm39)	F102I	probably damaging	Het
Zfpm2	A	C	15: 40,966,758 (GRCm39)	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,506,116 (GRCm39)		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
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
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'- GATGCATCATTTCATTGCTGTGCC -3'
(R):5'- GAGACAGTACGATTTACCTGCATTC -3'

Sequencing Primer
(F):5'- CTGTGCCTGTCAACAGTGAATGAG -3'
(R):5'- CCTGCATTCATTATAGAAGCCTTAC -3'

Posted On

2021-11-19