Mutagenetix > Incidental Mutation

Incidental Mutation 'R7255:Bcat1'

564200

Institutional Source

Beutler Lab

Gene Symbol

Bcat1

Ensembl Gene

ENSMUSG00000030268

Gene Name

branched chain aminotransferase 1, cytosolic

Synonyms

Eca39, BCATc, Bcat-1

MMRRC Submission

045316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144939561-145021883 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 144978511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 237 (E237*)

Ref Sequence

ENSEMBL: ENSMUSP00000032402 (fasta)

Gene Model

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

AlphaFold

P24288

Predicted Effect

probably null
Transcript: ENSMUST00000032402
AA Change: E237*

SMART Domains

Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: E237*

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

Predicted Effect

probably null
Transcript: ENSMUST00000048252
AA Change: E170*

SMART Domains

Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: E170*

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

Predicted Effect

probably null
Transcript: ENSMUST00000111742
AA Change: E170*

SMART Domains

Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: E170*

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

Predicted Effect

probably null
Transcript: ENSMUST00000123930
AA Change: E169*

SMART Domains

Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268
AA Change: E169*

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 null
Transcript: ENSMUST00000136819
AA Change: E20*

SMART Domains

Protein: ENSMUSP00000117708
Gene: ENSMUSG00000030268
AA Change: E20*

Domain	Start	End	E-Value	Type
PDB:2COJ\|B	2	76	2e-45	PDB
SCOP:d1ekfa_	2	76	2e-21	SMART

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

97% (66/68)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,692,092 (GRCm39)	S234P	probably damaging	Het
Arhgap28	T	C	17: 68,159,999 (GRCm39)	H650R	probably damaging	Het
Asic1	A	G	15: 99,595,338 (GRCm39)	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,689,939 (GRCm39)	S598C	probably damaging	Het
Btbd16	A	T	7: 130,387,722 (GRCm39)	I114F	probably benign	Het
Casp2	A	G	6: 42,245,841 (GRCm39)	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cpsf1	G	A	15: 76,481,743 (GRCm39)	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,200,455 (GRCm39)	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,044,366 (GRCm39)	I168T	probably damaging	Het
Dip2b	G	A	15: 100,107,508 (GRCm39)	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,278,884 (GRCm39)	K201R	probably benign	Het
Dock10	C	T	1: 80,520,816 (GRCm39)		probably null	Het
Dop1b	C	A	16: 93,567,034 (GRCm39)	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,230,330 (GRCm39)	R325Q	probably benign	Het
Enpp1	A	T	10: 24,521,213 (GRCm39)	I838K	possibly damaging	Het
Fcna	T	G	2: 25,516,040 (GRCm39)	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,765 (GRCm39)	G840C	probably damaging	Het
Flt1	C	T	5: 147,517,216 (GRCm39)	A1024T	probably damaging	Het
Galc	T	C	12: 98,212,514 (GRCm39)	K207R	probably null	Het
Gbp2b	T	A	3: 142,313,878 (GRCm39)	L386Q	probably damaging	Het
Gm8297	T	A	14: 16,165,868 (GRCm39)	N48K	probably damaging	Het
Gm9639	G	A	10: 77,630,372 (GRCm39)	P180L	unknown	Het
Inpp5a	A	G	7: 139,091,364 (GRCm39)	N116S	probably damaging	Het
Ipo9	T	C	1: 135,313,726 (GRCm39)	E984G	probably benign	Het
Klra4	A	G	6: 130,036,605 (GRCm39)	F145L	probably damaging	Het
Lag3	A	G	6: 124,887,198 (GRCm39)	L123P	probably benign	Het
Lyz3	T	C	10: 117,070,327 (GRCm39)	H150R	probably benign	Het
Med7	T	A	11: 46,331,822 (GRCm39)	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,845,814 (GRCm39)	L153R	possibly damaging	Het
Mup9	A	G	4: 60,377,336 (GRCm39)	V71A	probably benign	Het
Myo16	A	T	8: 10,549,169 (GRCm39)	Q927L	unknown	Het
Myo9b	T	C	8: 71,743,535 (GRCm39)	Y199H	probably damaging	Het
Nefm	A	G	14: 68,353,449 (GRCm39)	F406L	probably benign	Het
Or10ag2	T	A	2: 87,249,286 (GRCm39)	L296Q	probably damaging	Het
Or10ak11	A	T	4: 118,687,149 (GRCm39)	F162I	probably benign	Het
Pamr1	T	C	2: 102,441,929 (GRCm39)	F173L	probably damaging	Het
Pds5b	T	A	5: 150,720,132 (GRCm39)	D1205E	probably benign	Het
Plxna2	T	G	1: 194,434,411 (GRCm39)	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045 (GRCm39)	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,603,311 (GRCm39)	F412S	probably benign	Het
Prcc	A	T	3: 87,777,398 (GRCm39)	V192E	probably damaging	Het
Psg19	A	G	7: 18,527,973 (GRCm39)	Y257H	probably benign	Het
Rfx7	T	G	9: 72,527,110 (GRCm39)	S1433R	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Sanbr	G	A	11: 23,570,465 (GRCm39)	P145L	probably benign	Het
Sbspon	G	T	1: 15,954,021 (GRCm39)	C86*	probably null	Het
Sdhb	A	G	4: 140,704,729 (GRCm39)	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,432,336 (GRCm39)	T581A	probably benign	Het
Shkbp1	G	T	7: 27,042,173 (GRCm39)	T594K	possibly damaging	Het
Shpk	A	G	11: 73,090,486 (GRCm39)	S48G	probably benign	Het
Slc1a3	A	G	15: 8,672,483 (GRCm39)	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,311,384 (GRCm39)	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,745,493 (GRCm39)	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,515,051 (GRCm39)	T649A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats1	T	A	17: 45,765,131 (GRCm39)	D163V	probably damaging	Het
Ssh2	T	A	11: 77,316,419 (GRCm39)	M304K	probably damaging	Het
Sulf1	T	A	1: 12,929,232 (GRCm39)	D166E	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,604,330 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,658,415 (GRCm39)	M1477K	probably benign	Het
Tlr5	T	C	1: 182,801,881 (GRCm39)	F395S	probably damaging	Het
Trrap	T	C	5: 144,795,764 (GRCm39)	L3847P	probably damaging	Het
Tsks	C	T	7: 44,602,112 (GRCm39)	S276L	probably benign	Het
Uggt1	T	C	1: 36,185,187 (GRCm39)	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,631,703 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,696,239 (GRCm39)	V2768A		Het
Wdr26	A	C	1: 181,008,889 (GRCm39)	I627R	probably benign	Het
Zfp160	T	A	17: 21,245,749 (GRCm39)	S100T	probably benign	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
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
R9665:Bcat1	UTSW	6	144,994,488 (GRCm39)	missense	probably benign
RF004:Bcat1	UTSW	6	144,953,349 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAATACCCAAGATGCAATTCTGAC -3'
(R):5'- CCAATCGGCACTGCAACATG -3'

Sequencing Primer
(F):5'- TTCTGACATCCACACACGTG -3'
(R):5'- CTCTCTGATCTGGGAGTCTGAC -3'

Posted On

2019-06-26