Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Bcat1'

188414

Institutional Source

Beutler Lab

Gene Symbol

Bcat1

Ensembl Gene

ENSMUSG00000030268

Gene Name

branched chain aminotransferase 1, cytosolic

Synonyms

Eca39, BCATc, Bcat-1

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

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

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144939561-145021883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144985354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 96 (D96A)

Ref Sequence

ENSEMBL: ENSMUSP00000032402 (fasta)

Gene Model

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

AlphaFold

P24288

Predicted Effect

probably damaging
Transcript: ENSMUST00000032402
AA Change: D96A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: D96A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048252
AA Change: D29A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: D29A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111742
AA Change: D29A

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: D29A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123930
AA Change: D28A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268
AA Change: D28A

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

noncoding transcript
Transcript: ENSMUST00000145911

Predicted Effect

probably damaging
Transcript: ENSMUST00000149769
AA Change: D4A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116091
Gene: ENSMUSG00000030268
AA Change: D4A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154611

SMART Domains

Protein: ENSMUSP00000123137
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
PDB:2COJ\|B	1	84	2e-46	PDB
SCOP:d1ekfa_	1	84	4e-28	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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155693

SMART Domains

Protein: ENSMUSP00000116565
Gene: ENSMUSG00000030268

Domain	Start	End	E-Value	Type
PDB:2COJ\|B	1	112	8e-64	PDB
SCOP:d1ekfa_	1	112	2e-39	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Ahnak	T	A	19: 8,987,327 (GRCm39)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,655,080 (GRCm39)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,106,521 (GRCm39)	D827V	probably damaging	Het
Birc6	A	T	17: 74,855,741 (GRCm39)	I184L	probably benign	Het
Clca3b	A	T	3: 144,543,585 (GRCm39)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,728,183 (GRCm39)	V617A	probably benign	Het
Col22a1	G	A	15: 71,671,210 (GRCm39)	A1050V	unknown	Het
Col5a3	C	T	9: 20,695,964 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,604,566 (GRCm39)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 161,838,545 (GRCm39)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,923,361 (GRCm39)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,497,103 (GRCm39)	Y710H	probably benign	Het
Eef1a2	A	T	2: 180,794,734 (GRCm39)	M155K	possibly damaging	Het
Entpd8	G	A	2: 24,974,036 (GRCm39)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,552,722 (GRCm39)	L1072R	probably damaging	Het
Fhip2b	T	C	14: 70,824,291 (GRCm39)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,331,212 (GRCm39)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,699,491 (GRCm39)	S617P	probably damaging	Het
Ice1	T	C	13: 70,753,567 (GRCm39)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,390,953 (GRCm39)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,353,274 (GRCm39)		probably null	Het
Ireb2	C	T	9: 54,788,802 (GRCm39)	T92I	probably damaging	Het
Itprid1	C	T	6: 55,945,751 (GRCm39)	T824I	probably damaging	Het
Kcnj8	A	T	6: 142,515,915 (GRCm39)	L64*	probably null	Het
Mapk8ip3	A	G	17: 25,119,985 (GRCm39)	V983A	probably damaging	Het
Mertk	A	G	2: 128,643,556 (GRCm39)	D985G	probably benign	Het
Mical3	A	T	6: 120,936,604 (GRCm39)	S1307R	probably benign	Het
Mtcl3	A	T	10: 29,072,835 (GRCm39)	Q709L	probably damaging	Het
Ncaph2	A	G	15: 89,248,825 (GRCm39)	D222G	probably benign	Het
Nf1	C	A	11: 79,441,824 (GRCm39)	S295*	probably null	Het
Nlrp12	T	A	7: 3,289,804 (GRCm39)	D236V	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Oasl1	A	G	5: 115,074,003 (GRCm39)	D304G	probably damaging	Het
Or52i2	A	G	7: 102,319,940 (GRCm39)	D271G	possibly damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Or8g22	T	C	9: 38,958,296 (GRCm39)	I140V	probably benign	Het
Or8h8	C	T	2: 86,753,505 (GRCm39)	V124I	probably benign	Het
Patz1	A	G	11: 3,257,812 (GRCm39)	K604E	probably damaging	Het
Pcsk6	T	A	7: 65,684,998 (GRCm39)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,108,231 (GRCm39)		probably null	Het
Plxnc1	A	C	10: 94,677,413 (GRCm39)	L938R	probably benign	Het
Pou4f2	G	T	8: 79,161,460 (GRCm39)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,735,087 (GRCm39)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,690,206 (GRCm39)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,016,703 (GRCm39)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,087,707 (GRCm39)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,682,262 (GRCm39)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc5a6	A	G	5: 31,199,988 (GRCm39)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,145,391 (GRCm39)	I492T	probably damaging	Het
Spag5	A	G	11: 78,211,442 (GRCm39)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,109,371 (GRCm39)	I75L	possibly damaging	Het
Syngap1	T	C	17: 27,171,553 (GRCm39)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,335 (GRCm39)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm39)	V102A	probably benign	Het
Tomm70a	T	C	16: 56,942,324 (GRCm39)	S34P	unknown	Het
Txlnb	G	T	10: 17,718,981 (GRCm39)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,683,483 (GRCm39)	T143A	probably benign	Het
Unc80	C	T	1: 66,542,828 (GRCm39)	R361*	probably null	Het
Vcan	T	C	13: 89,851,666 (GRCm39)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,534,806 (GRCm39)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,345,249 (GRCm39)	R6K	probably benign	Het
Zan	T	A	5: 137,401,312 (GRCm39)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,227,898 (GRCm39)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,510,617 (GRCm39)	N433K	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
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
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'- CTTCCACAGCGTAGTGCAAAACAG -3'
(R):5'- TCCACAGTCTTTCAGTGGTCAAACC -3'

Sequencing Primer
(F):5'- TAGTGCAAAACAGAGGCAGC -3'
(R):5'- TCAGACACCCCCAGTGTTAA -3'

Posted On

2014-05-09