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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45570153-45589711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45575485 bp (GRCm38)

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
Abca15	A	T	7: 120,388,233	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,571,650	Q180E	probably benign	Het
Adamts8	A	G	9: 30,962,067	D856G	probably benign	Het
Agrn	A	T	4: 156,174,914	C828*	probably null	Het
Ankub1	T	C	3: 57,665,687	T205A	probably benign	Het
Atm	A	T	9: 53,462,503	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,909,843	F257L	probably benign	Het
Bod1l	G	A	5: 41,821,524	R816C	probably damaging	Het
Btg3	A	G	16: 78,364,807	Y172H	probably benign	Het
C130079G13Rik	G	A	3: 59,932,753		probably null	Het
Cacna1d	T	C	14: 30,045,282	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,706,601	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,303,112	V646A	probably benign	Het
Ccp110	C	T	7: 118,722,210	P363S	probably damaging	Het
Cct4	C	A	11: 23,001,564	T377K	possibly damaging	Het
Cep350	T	A	1: 155,862,276	H2607L	probably benign	Het
Cfap46	A	G	7: 139,620,104	F1954L	unknown	Het
Chat	C	T	14: 32,423,256		probably null	Het
Clasp2	A	G	9: 113,876,353		probably null	Het
Cldn9	T	C	17: 23,683,015	D212G	probably benign	Het
Cp	G	A	3: 19,964,532		probably null	Het
Cyfip1	T	A	7: 55,926,400	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,797,734	D4060G	probably damaging	Het
Dpyd	A	G	3: 119,064,921	T595A	probably damaging	Het
Eps8	G	A	6: 137,509,213	R434C	possibly damaging	Het
Fasl	A	G	1: 161,787,988	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,849,727	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,473,214	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,914,357	N102S	probably damaging	Het
Gm2381	T	C	7: 42,822,380	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,187,345	K269N	probably damaging	Het
Icosl	C	A	10: 78,073,873	Y217*	probably null	Het
Il17rd	G	T	14: 27,087,546	R153L	probably benign	Het
Kif17	C	A	4: 138,298,306	T973K	possibly damaging	Het
Klk1b16	A	G	7: 44,141,483	I236M	probably benign	Het
Lgmn	G	A	12: 102,423,739		probably benign	Het
Lmbr1l	T	C	15: 98,913,587	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,677,191	I196N	possibly damaging	Het
Maml1	C	T	11: 50,266,449	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,533,817	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,713,839	T69A	probably benign	Het
Mlph	G	A	1: 90,921,983		probably null	Het
Myh1	A	T	11: 67,220,609	M1625L	probably benign	Het
Myh3	G	T	11: 67,091,021	R781L	probably benign	Het
Nckap5	A	T	1: 126,026,049	I922K	probably benign	Het
Nlrp5	T	A	7: 23,417,634	M261K	probably damaging	Het
Olfr1317	A	T	2: 112,142,169	S75C	possibly damaging	Het
Olfr312	T	A	11: 58,831,924	Y257N	probably damaging	Het
Olfr396-ps1	G	A	11: 73,928,837	M204I	probably benign	Het
Olfr965	A	G	9: 39,719,610	N128D	probably benign	Het
Pak1	T	A	7: 97,888,972	V262E	probably benign	Het
Pigw	A	T	11: 84,877,104	D466E	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,333,116		probably benign	Het
Rfx1	A	G	8: 84,073,756		probably benign	Het
Rfx7	A	G	9: 72,593,357	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,200,719	D226E	probably benign	Het
Sgk3	G	A	1: 9,884,476	A271T	possibly damaging	Het
Sh2d5	T	A	4: 138,256,839	C173S	probably benign	Het
Skint8	T	C	4: 111,939,572	V291A	probably benign	Het
Slc22a27	T	A	19: 7,926,689	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,116,435	V449I	probably benign	Het
Slc39a9	T	C	12: 80,679,542	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,036,128	H495Y	probably damaging	Het
Stab2	G	A	10: 86,969,185	Q310*	probably null	Het
Supt16	C	A	14: 52,171,491	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,236,177	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,548,859	T565M	unknown	Het
Tll1	G	A	8: 64,025,142	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,969,631	T232I	possibly damaging	Het
Tmem2	C	A	19: 21,826,145	Y847*	probably null	Het
Trim65	T	G	11: 116,128,290	D141A	probably benign	Het
Trim80	T	C	11: 115,441,216	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,873,217	I83N	probably benign	Het
Vnn3	G	A	10: 23,851,908	G72D	probably benign	Het
Wasl	G	T	6: 24,619,687	P278Q	unknown	Het
Wdr62	A	T	7: 30,243,917	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,723,833	T663I	unknown	Het

Other mutations in Bcat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Bcat2	APN	7	45588260	missense	probably damaging	0.97
IGL02383:Bcat2	APN	7	45588007	missense	probably damaging	1.00
IGL03157:Bcat2	APN	7	45575498	missense	probably benign
IGL03226:Bcat2	APN	7	45588354	missense	probably damaging	1.00
Bearcat	UTSW	7	45588368	missense	possibly damaging	0.76
prematurely	UTSW	7	45588022	critical splice donor site	probably null
skunkbear	UTSW	7	45575870	missense	probably damaging	0.99
P0022:Bcat2	UTSW	7	45588345	missense	probably damaging	1.00
R1251:Bcat2	UTSW	7	45575986	missense	probably damaging	1.00
R1940:Bcat2	UTSW	7	45588368	missense	possibly damaging	0.76
R5446:Bcat2	UTSW	7	45585145	missense	possibly damaging	0.88
R6243:Bcat2	UTSW	7	45588267	missense	probably benign	0.19
R6932:Bcat2	UTSW	7	45589321	missense	probably damaging	0.98
R7434:Bcat2	UTSW	7	45576005	splice site	probably null
R7645:Bcat2	UTSW	7	45587963	missense	probably benign	0.04
R7732:Bcat2	UTSW	7	45585193	missense	possibly damaging	0.65
R7736:Bcat2	UTSW	7	45585193	missense	possibly damaging	0.65
R8140:Bcat2	UTSW	7	45588351	missense	probably damaging	1.00
R8474:Bcat2	UTSW	7	45587651	missense	probably damaging	1.00
R8782:Bcat2	UTSW	7	45585493	missense	probably benign
R9112:Bcat2	UTSW	7	45588022	critical splice donor site	probably null
R9320:Bcat2	UTSW	7	45585118	missense	probably damaging	0.97
R9365:Bcat2	UTSW	7	45575870	missense	probably damaging	0.99
R9449:Bcat2	UTSW	7	45585556	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