Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Bcat2'

706090

Institutional Source

Beutler Lab

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: 0.116) question?

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45219773-45239134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45234542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 141 (D141G)

Ref Sequence

ENSEMBL: ENSMUSP00000033098 (fasta)

Gene Model

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

AlphaFold

O35855

Predicted Effect

probably damaging
Transcript: ENSMUST00000033098
AA Change: D141G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: D141G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120864

SMART Domains

Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209204
AA Change: D101G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209410

Predicted Effect

probably benign
Transcript: ENSMUST00000210811

Predicted Effect

probably damaging
Transcript: ENSMUST00000211173
AA Change: D101G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,320 (GRCm39)	Y1451H	probably damaging	Het
Abca7	T	A	10: 79,833,471 (GRCm39)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,972,805 (GRCm39)	R238L	probably damaging	Het
Adar	T	A	3: 89,658,368 (GRCm39)	Y1141*	probably null	Het
Arid2	T	C	15: 96,269,067 (GRCm39)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,839,774 (GRCm39)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,322,386 (GRCm39)	V71A	unknown	Het
Bicdl1	C	A	5: 115,862,769 (GRCm39)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,684,910 (GRCm39)	I43T	possibly damaging	Het
C2cd5	A	T	6: 142,977,019 (GRCm39)	C698*	probably null	Het
Calr	T	A	8: 85,572,629 (GRCm39)	K87*	probably null	Het
Cap2	C	T	13: 46,768,818 (GRCm39)	T208I	probably benign	Het
Col14a1	A	T	15: 55,364,780 (GRCm39)	M1630L	probably benign	Het
Copg1	T	G	6: 87,887,072 (GRCm39)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,215,280 (GRCm39)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,933,799 (GRCm39)	H241L	probably benign	Het
Dgki	T	A	6: 36,892,422 (GRCm39)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,868,521 (GRCm39)		probably null	Het
Dynlrb1	T	C	2: 155,089,860 (GRCm39)		probably null	Het
Ehhadh	C	T	16: 21,592,281 (GRCm39)	V141I	probably benign	Het
Esyt3	A	G	9: 99,194,044 (GRCm39)	L865P	probably damaging	Het
Fam83h	T	A	15: 75,873,924 (GRCm39)	T1138S	possibly damaging	Het
Fzd4	T	C	7: 89,056,912 (GRCm39)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,701,260 (GRCm39)	K282M	probably benign	Het
Gnai2	G	A	9: 107,492,913 (GRCm39)	T330I		Het
Gpr107	T	C	2: 31,078,728 (GRCm39)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,142,654 (GRCm39)	M264L	probably benign	Het
Ints10	A	T	8: 69,279,951 (GRCm39)	I693F	probably damaging	Het
Jak3	A	T	8: 72,134,265 (GRCm39)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,261,457 (GRCm39)	E163G	probably benign	Het
Lctl	A	G	9: 64,040,455 (GRCm39)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,741,357 (GRCm39)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,335,111 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,057,144 (GRCm39)	M219L	probably benign	Het
Mbl2	T	A	19: 30,216,741 (GRCm39)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 46,885,392 (GRCm39)	R92C	probably benign	Het
Mroh4	G	A	15: 74,483,405 (GRCm39)	T644I	probably damaging	Het
Muc5ac	C	T	7: 141,369,255 (GRCm39)	A3114V	probably benign	Het
Myh11	T	A	16: 14,029,152 (GRCm39)	M1197L		Het
Naga	C	T	15: 82,221,084 (GRCm39)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsd3	A	G	8: 26,199,088 (GRCm39)		probably null	Het
Nsun6	T	C	2: 15,047,048 (GRCm39)	T101A	probably benign	Het
Or55b10	T	A	7: 102,144,084 (GRCm39)		probably benign	Het
Pabpc4l	T	A	3: 46,401,326 (GRCm39)	D106V	probably damaging	Het
Pdlim5	G	A	3: 141,953,109 (GRCm39)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,755,843 (GRCm39)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,606,221 (GRCm39)	D40G	probably benign	Het
Ripor2	T	C	13: 24,915,663 (GRCm39)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,610,336 (GRCm39)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,058,853 (GRCm39)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,795,644 (GRCm39)	S138*	probably null	Het
Snx27	T	C	3: 94,431,593 (GRCm39)	Y267C	probably damaging	Het
Sphk2	C	T	7: 45,361,179 (GRCm39)	R275H	probably damaging	Het
Stk36	T	A	1: 74,655,793 (GRCm39)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,428,422 (GRCm39)	S283N	possibly damaging	Het
Tenm2	T	A	11: 35,914,474 (GRCm39)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,937,822 (GRCm39)	V186A	possibly damaging	Het
Try4	T	C	6: 41,282,008 (GRCm39)		probably null	Het
Ubr1	C	A	2: 120,727,000 (GRCm39)	G1248V	probably benign	Het
Umod	C	T	7: 119,065,355 (GRCm39)	G558E	probably damaging	Het
Unc13b	T	C	4: 43,171,044 (GRCm39)	F624S	unknown	Het
Uvssa	T	G	5: 33,547,365 (GRCm39)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm39)	F8L	probably benign	Het
Zfp268	C	G	4: 145,349,156 (GRCm39)	Q198E	possibly damaging	Het
Zfp386	T	A	12: 116,023,517 (GRCm39)	C412S	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
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
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
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'- TGCTATCTGGATGCCATGGG -3'
(R):5'- GTTCCCCAGACAGCAATGTG -3'

Sequencing Primer
(F):5'- CAGCTCTTTGAGGGCTTGAAAG -3'
(R):5'- AATGTGCGTGTCCCTAAGC -3'

Posted On

2022-03-25