Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03157:Bcat2'

411297

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcat2

Ensembl Gene

ENSMUSG00000030826

Gene Name

branched chain aminotransferase 2, mitochondrial

Synonyms

Eca40, Bcat-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL03157

Quality Score

Status

Chromosome

Chromosomal Location

45219773-45239134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45224922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 31 (I31T)

Ref Sequence

ENSEMBL: ENSMUSP00000113045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000120864] [ENSMUST00000209204] [ENSMUST00000211173] [ENSMUST00000210811]

AlphaFold

O35855

Predicted Effect

probably benign
Transcript: ENSMUST00000033098
AA Change: I31T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: I31T

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	101	351	5.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120864
AA Change: I31T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: I31T

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	119	370	7.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211209

Predicted Effect

probably benign
Transcript: ENSMUST00000211173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210383

Predicted Effect

probably benign
Transcript: ENSMUST00000210811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210866

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 branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,551,649 (GRCm39)		probably benign	Het
Adam30	A	C	3: 98,069,612 (GRCm39)	K482Q	possibly damaging	Het
Aqp4	T	C	18: 15,533,037 (GRCm39)	R19G	probably benign	Het
Arhgap32	C	T	9: 32,170,430 (GRCm39)	P1070L	probably damaging	Het
Csmd2	T	A	4: 128,308,092 (GRCm39)	C1283*	probably null	Het
Fasn	A	G	11: 120,698,735 (GRCm39)	I2487T	probably benign	Het
Gys1	A	G	7: 45,089,323 (GRCm39)		probably benign	Het
Helz	A	G	11: 107,468,714 (GRCm39)	D79G	possibly damaging	Het
Il16	T	C	7: 83,371,611 (GRCm39)	D65G	probably damaging	Het
Iqgap1	C	T	7: 80,401,636 (GRCm39)	E490K	probably benign	Het
Kcnv2	A	G	19: 27,301,366 (GRCm39)	K406E	probably damaging	Het
Kif26b	T	A	1: 178,743,930 (GRCm39)	L1342H	probably damaging	Het
Nlrp3	A	G	11: 59,440,372 (GRCm39)	K650E	possibly damaging	Het
Opn1sw	T	A	6: 29,379,803 (GRCm39)	N144Y	possibly damaging	Het
Or2b2b	T	C	13: 21,859,112 (GRCm39)	M1V	probably null	Het
Or6z1	A	G	7: 6,504,892 (GRCm39)	L111P	probably damaging	Het
Or8k30	T	C	2: 86,339,367 (GRCm39)	L188P	possibly damaging	Het
Ovol1	T	C	19: 5,601,635 (GRCm39)	H129R	probably benign	Het
Pigv	T	C	4: 133,392,841 (GRCm39)	S110G	probably benign	Het
Pole	T	A	5: 110,441,619 (GRCm39)	F253L	probably benign	Het
Samd3	T	C	10: 26,139,740 (GRCm39)	Y291H	probably benign	Het
Slc4a4	T	A	5: 89,304,372 (GRCm39)	I605N	probably damaging	Het
Sult1a1	T	A	7: 126,274,489 (GRCm39)	Y58F	probably damaging	Het
Tfrc	T	A	16: 32,439,223 (GRCm39)	D362E	probably benign	Het
Thnsl2	T	C	6: 71,108,930 (GRCm39)	T294A	probably benign	Het
Tnfsf10	G	A	3: 27,380,106 (GRCm39)	G57R	possibly damaging	Het
Vps25	A	T	11: 101,147,723 (GRCm39)	N73I	probably benign	Het
Wdfy1	G	A	1: 79,684,035 (GRCm39)	H367Y	probably damaging	Het
Zfp568	T	C	7: 29,722,189 (GRCm39)	L378P	probably damaging	Het

Other mutations in Bcat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Bcat2	APN	7	45,237,684 (GRCm39)	missense	probably damaging	0.97
IGL02383:Bcat2	APN	7	45,237,431 (GRCm39)	missense	probably damaging	1.00
IGL03226:Bcat2	APN	7	45,237,778 (GRCm39)	missense	probably damaging	1.00
Bearcat	UTSW	7	45,237,792 (GRCm39)	missense	possibly damaging	0.76
prematurely	UTSW	7	45,237,446 (GRCm39)	critical splice donor site	probably null
skunkbear	UTSW	7	45,225,294 (GRCm39)	missense	probably damaging	0.99
P0022:Bcat2	UTSW	7	45,237,769 (GRCm39)	missense	probably damaging	1.00
R1251:Bcat2	UTSW	7	45,225,410 (GRCm39)	missense	probably damaging	1.00
R1940:Bcat2	UTSW	7	45,237,792 (GRCm39)	missense	possibly damaging	0.76
R5446:Bcat2	UTSW	7	45,234,569 (GRCm39)	missense	possibly damaging	0.88
R6243:Bcat2	UTSW	7	45,237,691 (GRCm39)	missense	probably benign	0.19
R6932:Bcat2	UTSW	7	45,238,745 (GRCm39)	missense	probably damaging	0.98
R7336:Bcat2	UTSW	7	45,224,909 (GRCm39)	missense	probably benign	0.00
R7434:Bcat2	UTSW	7	45,225,429 (GRCm39)	splice site	probably null
R7645:Bcat2	UTSW	7	45,237,387 (GRCm39)	missense	probably benign	0.04
R7732:Bcat2	UTSW	7	45,234,617 (GRCm39)	missense	possibly damaging	0.65
R7736:Bcat2	UTSW	7	45,234,617 (GRCm39)	missense	possibly damaging	0.65
R8140:Bcat2	UTSW	7	45,237,775 (GRCm39)	missense	probably damaging	1.00
R8474:Bcat2	UTSW	7	45,237,075 (GRCm39)	missense	probably damaging	1.00
R8782:Bcat2	UTSW	7	45,234,917 (GRCm39)	missense	probably benign
R9112:Bcat2	UTSW	7	45,237,446 (GRCm39)	critical splice donor site	probably null
R9320:Bcat2	UTSW	7	45,234,542 (GRCm39)	missense	probably damaging	0.97
R9365:Bcat2	UTSW	7	45,225,294 (GRCm39)	missense	probably damaging	0.99
R9449:Bcat2	UTSW	7	45,234,980 (GRCm39)	missense	possibly damaging	0.95

Posted On

2016-08-02