Mutagenetix > Incidental Mutation

Incidental Mutation 'R6575:Hibadh'

523394

Institutional Source

Beutler Lab

Gene Symbol

Hibadh

Ensembl Gene

ENSMUSG00000029776

Gene Name

3-hydroxyisobutyrate dehydrogenase

Synonyms

6430402H10Rik

MMRRC Submission

044699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52523215-52617285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52524013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 295 (T295I)

Ref Sequence

ENSEMBL: ENSMUSP00000031788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031788]

AlphaFold

Q99L13

Predicted Effect

probably damaging
Transcript: ENSMUST00000031788
AA Change: T295I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: T295I

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh_C	19	154	4.6e-10	PFAM
Pfam:NAD_binding_2	38	200	1.3e-51	PFAM
Pfam:F420_oxidored	40	133	3.4e-7	PFAM
Pfam:NAD_binding_11	202	329	6.1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155948

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,683 (GRCm39)	Y1177C	probably damaging	Het
Acnat1	A	G	4: 49,450,785 (GRCm39)	Y109H	possibly damaging	Het
Adgrf3	T	A	5: 30,401,522 (GRCm39)	K835N	possibly damaging	Het
Afg1l	T	C	10: 42,194,712 (GRCm39)	D360G	probably damaging	Het
Ap3s1	C	T	18: 46,887,448 (GRCm39)	T27M	probably benign	Het
Atp8b4	A	G	2: 126,256,284 (GRCm39)	L225P	probably damaging	Het
Bicra	G	A	7: 15,713,056 (GRCm39)	T997I	probably benign	Het
Bod1l	T	C	5: 41,995,411 (GRCm39)	R112G	probably damaging	Het
Cabin1	T	C	10: 75,561,535 (GRCm39)	T989A	possibly damaging	Het
Cog1	C	A	11: 113,546,887 (GRCm39)	Q494K	probably benign	Het
Cyb5rl	T	C	4: 106,942,550 (GRCm39)	Y160H	probably benign	Het
Dnajb8	A	G	6: 88,200,057 (GRCm39)	N198D	probably damaging	Het
Eif1ad11	T	C	12: 87,994,117 (GRCm39)	I115T	probably damaging	Het
Eif3l	C	A	15: 78,970,778 (GRCm39)	Q351K	possibly damaging	Het
Esr1	T	C	10: 4,916,301 (GRCm39)		probably benign	Het
Fam3c	G	T	6: 22,329,607 (GRCm39)	A40D	probably damaging	Het
Fcrla	A	G	1: 170,749,797 (GRCm39)	S87P	probably damaging	Het
Glra1	A	G	11: 55,411,822 (GRCm39)	Y246H	probably damaging	Het
Gm45871	T	A	18: 90,609,844 (GRCm39)	C361S	probably damaging	Het
Greb1l	A	G	18: 10,547,347 (GRCm39)	N1522D	possibly damaging	Het
Hcn4	T	C	9: 58,731,435 (GRCm39)	M214T	unknown	Het
Heatr5b	A	T	17: 79,070,418 (GRCm39)	V1665E	probably damaging	Het
Hemgn	C	A	4: 46,395,990 (GRCm39)	M415I	possibly damaging	Het
Iars1	T	C	13: 49,878,745 (GRCm39)	L947P	probably damaging	Het
Icam2	G	A	11: 106,269,585 (GRCm39)	T178I	probably damaging	Het
Lbr	A	G	1: 181,663,763 (GRCm39)	S86P	probably damaging	Het
Lipe	G	A	7: 25,082,749 (GRCm39)	T801I	probably benign	Het
Lrp6	T	C	6: 134,518,934 (GRCm39)	T44A	possibly damaging	Het
Malrd1	A	G	2: 15,847,439 (GRCm39)	H1193R	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,699,676 (GRCm39)	I1671V	probably benign	Het
Or2c1	A	G	16: 3,656,894 (GRCm39)	D19G	probably benign	Het
Osbpl9	T	C	4: 108,930,129 (GRCm39)	D334G	possibly damaging	Het
Pdcd11	A	G	19: 47,098,117 (GRCm39)	D801G	probably damaging	Het
Pfdn4	C	A	2: 170,358,556 (GRCm39)	D16E	probably benign	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Rrp9	C	T	9: 106,360,778 (GRCm39)	T253I	probably damaging	Het
Speer1m	A	T	5: 11,970,612 (GRCm39)	K62*	probably null	Het
Tnrc6a	A	G	7: 122,769,133 (GRCm39)	T308A	probably damaging	Het
Trgv4	T	A	13: 19,369,250 (GRCm39)	C34S	probably benign	Het
Trhr	A	G	15: 44,092,602 (GRCm39)	M280V	possibly damaging	Het
Trp53bp1	G	A	2: 121,059,084 (GRCm39)	H926Y	probably damaging	Het
Trpv5	A	T	6: 41,652,903 (GRCm39)	I90K	probably benign	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Vav1	A	C	17: 57,612,280 (GRCm39)	R513S	probably damaging	Het
Vmn2r100	A	T	17: 19,741,671 (GRCm39)	T128S	probably benign	Het
Zfp687	T	C	3: 94,915,700 (GRCm39)	Y1024C	probably damaging	Het
Zfp938	C	A	10: 82,061,160 (GRCm39)	G487*	probably null	Het
Znrf2	A	G	6: 54,855,430 (GRCm39)	Y73C	probably damaging	Het

Other mutations in Hibadh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02407:Hibadh	APN	6	52,525,874 (GRCm39)	missense	possibly damaging	0.93
IGL03116:Hibadh	APN	6	52,525,917 (GRCm39)	missense	probably damaging	1.00
R0103:Hibadh	UTSW	6	52,534,862 (GRCm39)	missense	probably benign	0.25
R0103:Hibadh	UTSW	6	52,534,862 (GRCm39)	missense	probably benign	0.25
R0468:Hibadh	UTSW	6	52,534,755 (GRCm39)	splice site	probably benign
R0800:Hibadh	UTSW	6	52,533,490 (GRCm39)	missense	probably damaging	1.00
R1950:Hibadh	UTSW	6	52,533,448 (GRCm39)	missense	probably benign	0.10
R4379:Hibadh	UTSW	6	52,597,027 (GRCm39)	missense	probably damaging	0.98
R4614:Hibadh	UTSW	6	52,523,915 (GRCm39)	missense	possibly damaging	0.85
R4987:Hibadh	UTSW	6	52,599,880 (GRCm39)	missense	probably damaging	1.00
R5073:Hibadh	UTSW	6	52,597,079 (GRCm39)	missense	possibly damaging	0.90
R5074:Hibadh	UTSW	6	52,597,079 (GRCm39)	missense	possibly damaging	0.90
R5402:Hibadh	UTSW	6	52,523,965 (GRCm39)	missense	probably benign	0.32
R6390:Hibadh	UTSW	6	52,533,474 (GRCm39)	missense	probably damaging	1.00
R7360:Hibadh	UTSW	6	52,617,197 (GRCm39)	missense	probably benign
R7974:Hibadh	UTSW	6	52,534,880 (GRCm39)	missense	probably benign	0.44
R8477:Hibadh	UTSW	6	52,617,185 (GRCm39)	missense	probably benign
R9196:Hibadh	UTSW	6	52,525,865 (GRCm39)	missense	probably damaging	1.00
Z1177:Hibadh	UTSW	6	52,596,980 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAGAGTTTGGTTCCTAACAG -3'
(R):5'- CAGTGGGAACATGCTTGCAG -3'

Sequencing Primer
(F):5'- AGAGTTTGGTTCCTAACAGCGTCC -3'
(R):5'- CCCACACGTCTCAATATG -3'

Posted On

2018-06-22