Mutagenetix > Incidental Mutation

Incidental Mutation 'R0800:Hibadh'

76230

Institutional Source

Beutler Lab

Gene Symbol

Hibadh

Ensembl Gene

ENSMUSG00000029776

Gene Name

3-hydroxyisobutyrate dehydrogenase

Synonyms

6430402H10Rik

MMRRC Submission

038980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0800 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

52523215-52617285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52533490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 209 (I209F)

Ref Sequence

ENSEMBL: ENSMUSP00000031788 (fasta)

Gene Model

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

AlphaFold

Q99L13

Predicted Effect

probably damaging
Transcript: ENSMUST00000031788
AA Change: I209F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: I209F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204075

Meta Mutation Damage Score

0.8151

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B230217C12Rik	T	C	11: 97,732,086 (GRCm39)		probably benign	Het
Cacna1g	T	C	11: 94,317,265 (GRCm39)	D1498G	probably damaging	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,440,614 (GRCm39)	Y158C	probably damaging	Het
Cic	A	G	7: 24,984,662 (GRCm39)	T1033A	probably benign	Het
Cst13	A	T	2: 148,672,247 (GRCm39)	I141F	possibly damaging	Het
Dnah7a	A	G	1: 53,604,855 (GRCm39)	L1301P	probably damaging	Het
Dnah8	T	A	17: 30,923,636 (GRCm39)	F1201L	probably benign	Het
Dok7	T	C	5: 35,232,633 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,774,171 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,699,877 (GRCm39)	V1753A	probably benign	Het
Fer1l4	A	G	2: 155,887,583 (GRCm39)	F538L	possibly damaging	Het
Fmo2	C	T	1: 162,704,383 (GRCm39)	D508N	probably benign	Het
Gabpb1	A	T	2: 126,472,248 (GRCm39)	Y351N	probably damaging	Het
Gnaq	T	A	19: 16,312,428 (GRCm39)	V230E	probably damaging	Het
Gprc5c	A	C	11: 114,757,537 (GRCm39)	K48Q	probably damaging	Het
Gzmd	A	G	14: 56,369,948 (GRCm39)	L11P	unknown	Het
Hbq1b	A	C	11: 32,237,581 (GRCm39)	H123P	probably damaging	Het
Il17f	G	T	1: 20,848,177 (GRCm39)	C100*	probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Itga8	A	T	2: 12,198,362 (GRCm39)	V541E	possibly damaging	Het
Kifc5b	T	A	17: 27,142,158 (GRCm39)	V212D	probably benign	Het
Klra2	A	T	6: 131,207,137 (GRCm39)	Y157*	probably null	Het
Kprp	T	C	3: 92,732,342 (GRCm39)	Y236C	unknown	Het
Mmp12	A	T	9: 7,357,827 (GRCm39)	M414L	possibly damaging	Het
Myh6	A	G	14: 55,190,735 (GRCm39)		probably benign	Het
Nlgn2	A	G	11: 69,716,823 (GRCm39)	F573L	possibly damaging	Het
Or10j7	C	T	1: 173,011,627 (GRCm39)	A125T	probably damaging	Het
Or4c124	A	G	2: 89,156,008 (GRCm39)	V172A	probably benign	Het
Pakap	T	A	4: 57,709,650 (GRCm39)	D198E	probably benign	Het
Papss1	T	A	3: 131,305,615 (GRCm39)		probably benign	Het
Parp4	A	G	14: 56,827,408 (GRCm39)	T181A	probably benign	Het
Piwil2	A	T	14: 70,646,486 (GRCm39)		probably benign	Het
Pla2g12b	A	G	10: 59,239,642 (GRCm39)	N17S	probably benign	Het
Polr3c	C	A	3: 96,626,627 (GRCm39)	V266L	probably damaging	Het
Pou3f3	A	G	1: 42,737,527 (GRCm39)	T408A	probably damaging	Het
Pskh1	A	G	8: 106,640,238 (GRCm39)	Y306C	probably damaging	Het
Rom1	T	A	19: 8,906,272 (GRCm39)	D89V	probably damaging	Het
Sell	T	A	1: 163,893,770 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,178,249 (GRCm39)		probably null	Het
Speg	T	C	1: 75,400,133 (GRCm39)	S2527P	probably damaging	Het
Stat3	A	G	11: 100,784,981 (GRCm39)		probably benign	Het
Stra6l	A	G	4: 45,882,797 (GRCm39)	T503A	probably benign	Het
Tapbp	A	G	17: 34,145,227 (GRCm39)	T375A	probably benign	Het
Tgm6	G	A	2: 129,985,342 (GRCm39)	V382M	possibly damaging	Het
Trappc9	A	T	15: 72,824,981 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,675,240 (GRCm39)	N131S	possibly damaging	Het
Usp19	A	G	9: 108,372,353 (GRCm39)	E469G	probably damaging	Het
Vmn2r17	T	A	5: 109,575,192 (GRCm39)		probably benign	Het
Zfp750	T	C	11: 121,402,838 (GRCm39)	T637A	probably benign	Het
Zhx2	A	C	15: 57,686,124 (GRCm39)	I498L	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTCCCAACATTGCCAAAGTAGG -3'
(R):5'- AGAGTTGAGGCCACAGTCATAATGC -3'

Sequencing Primer
(F):5'- GCAAAGAGTGCTGATGTTCCC -3'
(R):5'- CTAGGTTCTGCTGAGGACAG -3'

Posted On

2013-10-16