Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Bcat2'

569492

Institutional Source

Beutler Lab

Gene Symbol

Bcat2

Ensembl Gene

ENSMUSG00000030826

Gene Name

branched chain aminotransferase 2, mitochondrial

Synonyms

Eca40, Bcat-2

MMRRC Submission

045426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45219773-45239134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45224909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 27 (C27S)

Ref Sequence

ENSEMBL: ENSMUSP00000033098 (fasta)

Gene Model

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

AlphaFold

O35855

Predicted Effect

probably benign
Transcript: ENSMUST00000033098
AA Change: C27S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: C27S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120864
AA Change: C27S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: C27S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209204

Predicted Effect

probably benign
Transcript: ENSMUST00000210811

Predicted Effect

probably benign
Transcript: ENSMUST00000211173

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	G	A	3: 59,840,174 (GRCm39)		probably null	Het
Abca15	A	T	7: 119,987,456 (GRCm39)	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,462,476 (GRCm39)	Q180E	probably benign	Het
Adamts8	A	G	9: 30,873,363 (GRCm39)	D856G	probably benign	Het
Agrn	A	T	4: 156,259,371 (GRCm39)	C828*	probably null	Het
Ankub1	T	C	3: 57,573,108 (GRCm39)	T205A	probably benign	Het
Atm	A	T	9: 53,373,803 (GRCm39)	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,799,855 (GRCm39)	F257L	probably benign	Het
Bod1l	G	A	5: 41,978,867 (GRCm39)	R816C	probably damaging	Het
Btg3	A	G	16: 78,161,695 (GRCm39)	Y172H	probably benign	Het
Cacna1d	T	C	14: 29,767,239 (GRCm39)	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,406,026 (GRCm39)	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,508,110 (GRCm39)	V646A	probably benign	Het
Ccp110	C	T	7: 118,321,433 (GRCm39)	P363S	probably damaging	Het
Cct4	C	A	11: 22,951,564 (GRCm39)	T377K	possibly damaging	Het
Cemip2	C	A	19: 21,803,509 (GRCm39)	Y847*	probably null	Het
Cep350	T	A	1: 155,738,022 (GRCm39)	H2607L	probably benign	Het
Cfap46	A	G	7: 139,200,020 (GRCm39)	F1954L	unknown	Het
Chat	C	T	14: 32,145,213 (GRCm39)		probably null	Het
Clasp2	A	G	9: 113,705,421 (GRCm39)		probably null	Het
Cldn9	T	C	17: 23,901,989 (GRCm39)	D212G	probably benign	Het
Cp	G	A	3: 20,018,696 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,576,148 (GRCm39)	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,625,299 (GRCm39)	D4060G	probably damaging	Het
Dpyd	A	G	3: 118,858,570 (GRCm39)	T595A	probably damaging	Het
Eps8	G	A	6: 137,486,211 (GRCm39)	R434C	possibly damaging	Het
Fasl	A	G	1: 161,615,557 (GRCm39)	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,826,712 (GRCm39)	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,478,025 (GRCm39)	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,825,653 (GRCm39)	N102S	probably damaging	Het
Gm2381	T	C	7: 42,471,804 (GRCm39)	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,498,237 (GRCm39)	K269N	probably damaging	Het
Icosl	C	A	10: 77,909,707 (GRCm39)	Y217*	probably null	Het
Il17rd	G	T	14: 26,809,503 (GRCm39)	R153L	probably benign	Het
Kif17	C	A	4: 138,025,617 (GRCm39)	T973K	possibly damaging	Het
Klk1b16	A	G	7: 43,790,907 (GRCm39)	I236M	probably benign	Het
Lgmn	G	A	12: 102,389,998 (GRCm39)		probably benign	Het
Lmbr1l	T	C	15: 98,811,468 (GRCm39)	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,584,474 (GRCm39)	I196N	possibly damaging	Het
Maml1	C	T	11: 50,157,276 (GRCm39)	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,423,829 (GRCm39)	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,315,568 (GRCm39)	T69A	probably benign	Het
Mlph	G	A	1: 90,849,705 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,111,435 (GRCm39)	M1625L	probably benign	Het
Myh3	G	T	11: 66,981,847 (GRCm39)	R781L	probably benign	Het
Nckap5	A	T	1: 125,953,786 (GRCm39)	I922K	probably benign	Het
Nlrp5	T	A	7: 23,117,059 (GRCm39)	M261K	probably damaging	Het
Or1e1d-ps1	G	A	11: 73,819,663 (GRCm39)	M204I	probably benign	Het
Or4f47	A	T	2: 111,972,514 (GRCm39)	S75C	possibly damaging	Het
Or5af1	T	A	11: 58,722,750 (GRCm39)	Y257N	probably damaging	Het
Or8g52	A	G	9: 39,630,906 (GRCm39)	N128D	probably benign	Het
Pak1	T	A	7: 97,538,179 (GRCm39)	V262E	probably benign	Het
Pigw	A	T	11: 84,767,930 (GRCm39)	D466E	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,240,432 (GRCm39)		probably benign	Het
Rfx1	A	G	8: 84,800,385 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,500,639 (GRCm39)	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,384,702 (GRCm39)	D226E	probably benign	Het
Sgk3	G	A	1: 9,954,701 (GRCm39)	A271T	possibly damaging	Het
Sh2d5	T	A	4: 137,984,150 (GRCm39)	C173S	probably benign	Het
Skint8	T	C	4: 111,796,769 (GRCm39)	V291A	probably benign	Het
Slc22a27	T	A	19: 7,904,054 (GRCm39)	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,023,751 (GRCm39)	V449I	probably benign	Het
Slc39a9	T	C	12: 80,726,316 (GRCm39)	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,183,942 (GRCm39)	H495Y	probably damaging	Het
Stab2	G	A	10: 86,805,049 (GRCm39)	Q310*	probably null	Het
Supt16	C	A	14: 52,408,948 (GRCm39)	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,689,212 (GRCm39)	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,439,685 (GRCm39)	T565M	unknown	Het
Tll1	G	A	8: 64,478,176 (GRCm39)	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,867,512 (GRCm39)	T232I	possibly damaging	Het
Trim65	T	G	11: 116,019,116 (GRCm39)	D141A	probably benign	Het
Trim80	T	C	11: 115,332,042 (GRCm39)	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,709,051 (GRCm39)	I83N	probably benign	Het
Vnn3	G	A	10: 23,727,806 (GRCm39)	G72D	probably benign	Het
Wasl	G	T	6: 24,619,686 (GRCm39)	P278Q	unknown	Het
Wdr62	A	T	7: 29,943,342 (GRCm39)	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,942,814 (GRCm39)	T663I	unknown	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
IGL03157:Bcat2	APN	7	45,224,922 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTGTCTAGAATGCACTG -3'
(R):5'- CTGAGAGACTACAGCTTCCATG -3'

Sequencing Primer
(F):5'- CTGTCTAGAATGCACTGAGACTG -3'
(R):5'- ACTACAGCTTCCATGGGGCC -3'

Posted On

2019-09-13