Mutagenetix > Incidental Mutation

Incidental Mutation 'R9665:Bcat1'

727758

Institutional Source

Beutler Lab

Gene Symbol

Bcat1

Ensembl Gene

ENSMUSG00000030268

Gene Name

branched chain aminotransferase 1, cytosolic

Synonyms

Eca39, BCATc, Bcat-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9665 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

144939561-145021883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144994488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 3 (H3P)

Ref Sequence

ENSEMBL: ENSMUSP00000032402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032402] [ENSMUST00000048252] [ENSMUST00000111742] [ENSMUST00000123930] [ENSMUST00000149769] [ENSMUST00000204138]

AlphaFold

P24288

Predicted Effect

probably benign
Transcript: ENSMUST00000032402
AA Change: H3P

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

SMART Domains

Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: H3P

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	160	410	1.3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048252

SMART Domains

Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	111	354	5.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111742

SMART Domains

Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	111	354	1.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123930

SMART Domains

Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
PDB:2COJ\|B	2	224	1e-139	PDB
SCOP:d1ekfa_	21	224	1e-76	SMART
Blast:FN3	129	192	5e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149769

SMART Domains

Protein: ENSMUSP00000116091
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
PDB:2ABJ\|J	2	136	1e-78	PDB
SCOP:d1ekfa_	2	136	1e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204138

SMART Domains

Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	34	180	9.1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal amino acid metabilism in T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,407,796 (GRCm39)	E79G	probably damaging	Het
4930583I09Rik	T	A	17: 65,141,288 (GRCm39)	Q78L	unknown	Het
9330159F19Rik	G	T	10: 29,103,344 (GRCm39)	V642F	probably benign	Het
Abca9	T	A	11: 110,006,280 (GRCm39)	Q1275L	probably benign	Het
Abca9	G	T	11: 110,006,281 (GRCm39)	Q1275K	probably benign	Het
Ager	C	T	17: 34,819,090 (GRCm39)	P313S	probably benign	Het
Ap4m1	T	A	5: 138,171,273 (GRCm39)	N98K	probably benign	Het
Arhgef12	T	G	9: 42,929,650 (GRCm39)	K215T	possibly damaging	Het
Arhgef4	T	C	1: 34,849,518 (GRCm39)	Y370H	probably benign	Het
Btnl6	T	A	17: 34,732,635 (GRCm39)	Q313L	probably benign	Het
Cad	T	C	5: 31,229,703 (GRCm39)	S1458P	probably benign	Het
Cfap161	A	G	7: 83,442,579 (GRCm39)	V78A	probably benign	Het
Chd2	C	A	7: 73,079,555 (GRCm39)	A1782S	probably benign	Het
Cimip2b	T	A	4: 43,427,554 (GRCm39)	R257*	probably null	Het
Col4a3	A	T	1: 82,668,301 (GRCm39)	T1042S	unknown	Het
Cramp1	A	T	17: 25,196,545 (GRCm39)	N856K	probably damaging	Het
Crispld2	G	A	8: 120,760,316 (GRCm39)	R414H	probably benign	Het
Ctsb	T	A	14: 63,370,917 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,839,504 (GRCm39)	D373G	possibly damaging	Het
Dnah3	A	G	7: 119,644,981 (GRCm39)	V1100A	probably benign	Het
Dnajb6	A	T	5: 29,971,374 (GRCm39)	L225F	probably damaging	Het
Dscc1	A	T	15: 54,946,837 (GRCm39)	I296K	unknown	Het
Epb41l2	A	G	10: 25,317,798 (GRCm39)	D105G	probably benign	Het
Evpl	G	A	11: 116,123,497 (GRCm39)	R292C	probably damaging	Het
Flnc	T	C	6: 29,455,447 (GRCm39)	I2032T	probably damaging	Het
Fryl	T	A	5: 73,222,299 (GRCm39)	D2094V	probably damaging	Het
Gigyf2	A	G	1: 87,331,457 (GRCm39)	S202G	unknown	Het
Hdgfl1	A	T	13: 26,953,812 (GRCm39)	M87K	probably benign	Het
Htra3	T	A	5: 35,836,654 (GRCm39)	I13F	unknown	Het
Igf2r	T	C	17: 12,913,027 (GRCm39)	N1774D	probably benign	Het
Ighj1	A	T	12: 113,393,446 (GRCm39)	Y3N		Het
Incenp	T	C	19: 9,871,329 (GRCm39)	H100R	unknown	Het
Klrb1c	A	G	6: 128,760,625 (GRCm39)		probably null	Het
Lmbrd1	T	A	1: 24,732,065 (GRCm39)	V94D	probably damaging	Het
Lmna	A	T	3: 88,389,793 (GRCm39)	S611T	probably benign	Het
Lsp1	A	C	7: 142,044,142 (GRCm39)	I296L	probably benign	Het
Mdga1	A	T	17: 30,051,991 (GRCm39)	I892N	probably damaging	Het
Micu3	A	G	8: 40,828,666 (GRCm39)	E351G	probably benign	Het
Mrpl35	A	G	6: 71,795,704 (GRCm39)	V61A	probably benign	Het
Nhsl1	A	G	10: 18,401,599 (GRCm39)	K908E	possibly damaging	Het
Nlk	A	G	11: 78,481,753 (GRCm39)	L236P		Het
Nwd1	T	A	8: 73,401,106 (GRCm39)	H735Q	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,656 (GRCm39)	I47F	probably benign	Het
Or5d47	A	G	2: 87,804,596 (GRCm39)	S138P	possibly damaging	Het
Or5w17	A	T	2: 87,583,671 (GRCm39)	I222N	probably damaging	Het
Or7h8	T	A	9: 20,124,402 (GRCm39)	Y252*	probably null	Het
Otof	T	A	5: 30,584,895 (GRCm39)	S70C	probably benign	Het
Pcdh20	A	T	14: 88,707,162 (GRCm39)	V46D	probably benign	Het
Pjvk	A	G	2: 76,487,827 (GRCm39)	T240A	probably benign	Het
Pou2f1	A	G	1: 165,703,600 (GRCm39)	S697P	probably damaging	Het
Prkn	T	A	17: 11,286,062 (GRCm39)	D18E	possibly damaging	Het
Prmt9	G	A	8: 78,307,267 (GRCm39)	V739I	probably benign	Het
Prr14	A	G	7: 127,073,091 (GRCm39)	D146G	probably benign	Het
Rai14	T	G	15: 10,574,803 (GRCm39)	E747D	probably damaging	Het
Rapgef4	A	T	2: 72,036,018 (GRCm39)	T504S	probably benign	Het
Rilpl2	C	A	5: 124,616,240 (GRCm39)		probably benign	Het
Ror2	A	T	13: 53,439,561 (GRCm39)	M1K	probably null	Het
Shisa9	A	G	16: 12,085,446 (GRCm39)	T352A	probably benign	Het
Slc35a4	A	G	18: 36,813,651 (GRCm39)	N33S	probably benign	Het
Slx4	G	T	16: 3,806,890 (GRCm39)	L518I	probably benign	Het
Speer1i	A	G	5: 11,092,852 (GRCm39)	K132R		Het
Spon2	T	C	5: 33,374,702 (GRCm39)	T35A	probably benign	Het
Syne3	A	C	12: 104,924,247 (GRCm39)	L471R	probably benign	Het
Tas2r115	A	G	6: 132,714,390 (GRCm39)	L187S	probably benign	Het
Tbc1d30	G	T	10: 121,102,886 (GRCm39)	S715R	possibly damaging	Het
Tdrd1	A	G	19: 56,819,572 (GRCm39)	E24G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tjp1	A	G	7: 64,962,644 (GRCm39)	S1178P	probably benign	Het
Upf2	A	G	2: 6,051,715 (GRCm39)	S1126G	unknown	Het
Vmn1r128	G	T	7: 21,083,362 (GRCm39)	C22F	probably damaging	Het
Vmn2r95	G	T	17: 18,660,607 (GRCm39)	V340F	probably damaging	Het
Vps13c	A	T	9: 67,863,025 (GRCm39)	K3014*	probably null	Het
Wdr75	T	C	1: 45,843,013 (GRCm39)	V126A	unknown	Het
Yeats4	A	T	10: 117,053,343 (GRCm39)	Y139*	probably null	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zfp143	C	G	7: 109,692,414 (GRCm39)	I608M	probably damaging	Het
Zfp772	A	T	7: 7,212,793 (GRCm39)	M1K	probably null	Het
Zfp827	A	G	8: 79,906,756 (GRCm39)	M923V	possibly damaging	Het

Other mutations in Bcat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Bcat1	APN	6	144,946,015 (GRCm39)	missense	possibly damaging	0.89
IGL01882:Bcat1	APN	6	144,950,135 (GRCm39)	missense	probably damaging	1.00
IGL02021:Bcat1	APN	6	144,993,015 (GRCm39)	splice site	probably benign
IGL02024:Bcat1	APN	6	144,978,564 (GRCm39)	missense	probably damaging	0.97
IGL02705:Bcat1	APN	6	144,964,914 (GRCm39)	splice site	probably benign
IGL02954:Bcat1	APN	6	144,964,945 (GRCm39)	missense	probably damaging	1.00
R0331:Bcat1	UTSW	6	144,993,040 (GRCm39)	missense	probably benign	0.17
R1592:Bcat1	UTSW	6	144,955,784 (GRCm39)	missense	probably benign	0.00
R1680:Bcat1	UTSW	6	144,985,354 (GRCm39)	missense	probably damaging	1.00
R2162:Bcat1	UTSW	6	144,955,834 (GRCm39)	missense	probably damaging	1.00
R2306:Bcat1	UTSW	6	144,953,379 (GRCm39)	missense	probably damaging	0.96
R3498:Bcat1	UTSW	6	144,965,068 (GRCm39)	missense	probably damaging	0.99
R3758:Bcat1	UTSW	6	144,978,598 (GRCm39)	missense	probably damaging	1.00
R3831:Bcat1	UTSW	6	144,955,834 (GRCm39)	missense	probably damaging	1.00
R3833:Bcat1	UTSW	6	144,955,834 (GRCm39)	missense	probably damaging	1.00
R4829:Bcat1	UTSW	6	144,961,201 (GRCm39)	missense	probably damaging	1.00
R5250:Bcat1	UTSW	6	144,993,165 (GRCm39)	critical splice donor site	probably null
R5338:Bcat1	UTSW	6	144,953,353 (GRCm39)	missense	possibly damaging	0.50
R5414:Bcat1	UTSW	6	144,961,173 (GRCm39)	critical splice donor site	probably null
R5679:Bcat1	UTSW	6	144,953,474 (GRCm39)	missense	probably damaging	1.00
R6566:Bcat1	UTSW	6	144,961,210 (GRCm39)	missense	probably damaging	1.00
R7015:Bcat1	UTSW	6	144,985,309 (GRCm39)	missense	probably damaging	0.99
R7255:Bcat1	UTSW	6	144,978,511 (GRCm39)	nonsense	probably null
R7606:Bcat1	UTSW	6	144,994,358 (GRCm39)	missense	probably benign	0.06
R8115:Bcat1	UTSW	6	144,955,819 (GRCm39)	missense	probably damaging	1.00
R9198:Bcat1	UTSW	6	144,985,222 (GRCm39)	missense	probably damaging	1.00
R9342:Bcat1	UTSW	6	144,994,332 (GRCm39)	missense	probably benign
R9588:Bcat1	UTSW	6	144,950,126 (GRCm39)	missense	probably benign	0.04
RF004:Bcat1	UTSW	6	144,953,349 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCGGTAATACCCAAGAGCC -3'
(R):5'- TGCTGCAAATCCAGATCGG -3'

Sequencing Primer
(F):5'- CGGTAATACCCAAGAGCCTAGTG -3'
(R):5'- GAGAGAGGGCCCTTGTGATGC -3'

Posted On

2022-10-06