Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Hibadh'

17882

Institutional Source

Beutler Lab

Gene Symbol

Hibadh

Ensembl Gene

ENSMUSG00000029776

Gene Name

3-hydroxyisobutyrate dehydrogenase

Synonyms

6430402H10Rik

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

52523215-52617285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52534862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 173 (M173L)

Ref Sequence

ENSEMBL: ENSMUSP00000031788 (fasta)

Gene Model

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

AlphaFold

Q99L13

Predicted Effect

probably benign
Transcript: ENSMUST00000031788
AA Change: M173L

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: M173L

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

0.3348

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,940,194 (GRCm39)		probably benign	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Asah2	G	T	19: 31,996,377 (GRCm39)	H374N	probably benign	Het
Catspere2	A	G	1: 177,943,771 (GRCm39)	N703D	unknown	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,775,074 (GRCm39)	E301A	probably benign	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Manea	A	T	4: 26,329,080 (GRCm39)		probably null	Het
Ms4a4a	T	A	19: 11,370,048 (GRCm39)	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phax	T	A	18: 56,695,785 (GRCm39)	V7D	probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,199,743 (GRCm39)	V925G	probably damaging	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,484,577 (GRCm39)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	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
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

2013-03-25