Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03116:Hibadh'

419415

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 #

IGL03116

Quality Score

Status

Chromosome

Chromosomal Location

52523215-52617285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52525917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 244 (N244K)

Ref Sequence

ENSEMBL: ENSMUSP00000031788 (fasta)

Gene Model

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

AlphaFold

Q99L13

Predicted Effect

probably damaging
Transcript: ENSMUST00000031788
AA Change: N244K

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

SMART Domains

Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: N244K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	T	C	X: 12,535,892 (GRCm39)		probably benign	Het
9530068E07Rik	A	G	11: 52,294,331 (GRCm39)	I199V	probably benign	Het
Aasdh	A	T	5: 77,049,936 (GRCm39)		probably null	Het
Aatk	T	C	11: 119,907,577 (GRCm39)	I84V	probably benign	Het
Adcy1	A	G	11: 7,100,071 (GRCm39)	H727R	probably benign	Het
Aff2	T	C	X: 68,878,092 (GRCm39)	V626A	probably benign	Het
Ano2	C	A	6: 125,957,134 (GRCm39)	Y634*	probably null	Het
Apob	C	A	12: 8,066,350 (GRCm39)	Q4407K	probably damaging	Het
Asz1	T	C	6: 18,076,642 (GRCm39)		probably benign	Het
Atp2b4	T	G	1: 133,656,506 (GRCm39)	T715P	possibly damaging	Het
Brip1	G	T	11: 85,955,735 (GRCm39)	S926*	probably null	Het
Cpd	A	T	11: 76,702,539 (GRCm39)	Y610N	probably damaging	Het
Dennd4c	T	C	4: 86,707,057 (GRCm39)		probably benign	Het
Dido1	G	A	2: 180,312,772 (GRCm39)	T1041I	probably damaging	Het
Dpp8	A	T	9: 64,973,749 (GRCm39)	T658S	probably damaging	Het
Efcab3	T	A	11: 104,612,359 (GRCm39)	S661T	probably benign	Het
Fcer1a	G	A	1: 173,049,128 (GRCm39)	Q172*	probably null	Het
Frem3	A	G	8: 81,339,435 (GRCm39)	E576G	possibly damaging	Het
Gcsam	T	C	16: 45,440,431 (GRCm39)	F136S	possibly damaging	Het
Glmn	T	G	5: 107,698,949 (GRCm39)	T430P	probably damaging	Het
Gm5934	T	C	X: 24,340,931 (GRCm39)	N194S	probably benign	Het
Gpatch11	T	A	17: 79,151,282 (GRCm39)	L231*	probably null	Het
Kank2	A	G	9: 21,684,060 (GRCm39)	V723A	probably damaging	Het
Kcnn2	A	T	18: 45,788,273 (GRCm39)	D192V	probably damaging	Het
Ksr2	G	A	5: 117,846,022 (GRCm39)	E630K	probably benign	Het
Lmod3	T	C	6: 97,224,156 (GRCm39)	H555R	possibly damaging	Het
Mycs	A	G	X: 5,380,922 (GRCm39)	F53L	probably damaging	Het
Ndufa10	G	A	1: 92,392,109 (GRCm39)	Q215*	probably null	Het
Ninl	C	T	2: 150,806,139 (GRCm39)	A361T	probably damaging	Het
Pbsn	A	G	X: 76,891,624 (GRCm39)	C58R	probably damaging	Het
Pcsk1	T	A	13: 75,280,335 (GRCm39)	L720Q	probably damaging	Het
Prss12	T	C	3: 123,299,925 (GRCm39)	F679L	probably benign	Het
Sohlh1	C	T	2: 25,735,660 (GRCm39)		probably null	Het
Sspo	T	C	6: 48,471,035 (GRCm39)	F701L	probably benign	Het
Tdp1	T	C	12: 99,921,290 (GRCm39)	S609P	probably benign	Het
Tmtc4	T	A	14: 123,165,044 (GRCm39)	N605I	probably benign	Het
Tnc	G	A	4: 63,932,270 (GRCm39)	P715S	probably damaging	Het
Ubn2	T	C	6: 38,468,834 (GRCm39)	S1181P	probably damaging	Het
Ubr4	T	C	4: 139,206,892 (GRCm39)		probably benign	Het
Vmn1r46	T	C	6: 89,953,898 (GRCm39)	F249S	probably benign	Het
Zfp382	T	C	7: 29,833,614 (GRCm39)	S422P	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
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

2016-08-02