Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Hibadh'

292144

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hibadh

Ensembl Gene

ENSMUSG00000029776

Gene Name

3-hydroxyisobutyrate dehydrogenase

Synonyms

6430402H10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

52523215-52617285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52525874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 259 (V259I)

Ref Sequence

ENSEMBL: ENSMUSP00000031788 (fasta)

Gene Model

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

AlphaFold

Q99L13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031788
AA Change: V259I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: V259I

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	probably benign	Het

Other mutations in Hibadh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6575:Hibadh	UTSW	6	52,524,013 (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

Posted On

2015-04-16