Incidental Mutation 'IGL01065:Bcat1'
ID 51240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcat1
Ensembl Gene ENSMUSG00000030268
Gene Name branched chain aminotransferase 1, cytosolic
Synonyms Eca39, BCATc, Bcat-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL01065
Quality Score
Chromosome 6
Chromosomal Location 144939561-145021883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144946015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 446 (S446G)
Ref Sequence ENSEMBL: ENSMUSP00000032402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032402] [ENSMUST00000048252] [ENSMUST00000111742]
AlphaFold P24288
Predicted Effect possibly damaging
Transcript: ENSMUST00000032402
AA Change: S446G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: S446G

Pfam:Aminotran_4 160 410 1.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048252
SMART Domains Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268

Pfam:Aminotran_4 111 354 5.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111742
AA Change: S379G

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: S379G

Pfam:Aminotran_4 111 354 1.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145911
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apob A G 12: 8,053,299 (GRCm39) Y1247C probably damaging Het
Atg16l1 A T 1: 87,713,653 (GRCm39) N401I probably damaging Het
Bcam T C 7: 19,490,724 (GRCm39) H591R probably benign Het
C2cd5 A G 6: 143,024,005 (GRCm39) S262P probably damaging Het
Clrn1 T C 3: 58,792,446 (GRCm39) K6E probably damaging Het
D17H6S53E A T 17: 35,346,259 (GRCm39) K57* probably null Het
Dennd1a T A 2: 37,734,917 (GRCm39) I17F probably benign Het
Depdc7 A C 2: 104,552,426 (GRCm39) Y460* probably null Het
Disp3 T C 4: 148,345,640 (GRCm39) Y400C probably damaging Het
Edem3 T C 1: 151,653,302 (GRCm39) Y203H probably damaging Het
Fbxl5 A G 5: 43,902,676 (GRCm39) C679R probably damaging Het
Fhad1 T C 4: 141,632,923 (GRCm39) T1194A probably benign Het
Garin4 T C 1: 190,895,224 (GRCm39) D473G probably benign Het
Gipc2 A G 3: 151,808,294 (GRCm39) L253P possibly damaging Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Hoxb6 A G 11: 96,191,635 (GRCm39) T186A probably damaging Het
Kif24 A G 4: 41,423,639 (GRCm39) probably benign Het
Lonp1 T C 17: 56,922,500 (GRCm39) probably benign Het
Lrp1 A G 10: 127,410,907 (GRCm39) I1427T probably benign Het
Lrp2 C T 2: 69,299,780 (GRCm39) E3091K possibly damaging Het
Lzts1 T C 8: 69,588,744 (GRCm39) N404S probably benign Het
Map3k4 A T 17: 12,451,877 (GRCm39) D1470E probably damaging Het
Med30 A T 15: 52,584,456 (GRCm39) N125Y probably benign Het
Mgam G A 6: 40,639,644 (GRCm39) probably null Het
Mrps33 G A 6: 39,779,447 (GRCm39) R83* probably null Het
Notch3 A T 17: 32,365,390 (GRCm39) Y1107* probably null Het
Rc3h2 T A 2: 37,267,856 (GRCm39) probably benign Het
Rev1 T C 1: 38,138,090 (GRCm39) E65G possibly damaging Het
Rgl1 T C 1: 152,394,893 (GRCm39) N760S probably damaging Het
Slc16a4 T C 3: 107,210,416 (GRCm39) I362T possibly damaging Het
Slc25a24 G A 3: 109,065,967 (GRCm39) probably benign Het
Slc2a4 G T 11: 69,836,782 (GRCm39) probably benign Het
Slc39a13 T A 2: 90,894,051 (GRCm39) I256F probably damaging Het
Spdya A T 17: 71,863,320 (GRCm39) N23I possibly damaging Het
Srpra T A 9: 35,124,734 (GRCm39) W112R probably damaging Het
Tbc1d4 A C 14: 101,686,629 (GRCm39) probably benign Het
Ttc39d G A 17: 80,523,703 (GRCm39) G121R probably damaging Het
Tuba3a C T 6: 125,259,920 (GRCm39) V9M possibly damaging Het
Upf2 A G 2: 5,966,111 (GRCm39) K244E unknown Het
Usp39 T C 6: 72,316,958 (GRCm39) Y141C probably damaging Het
Other mutations in Bcat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9665:Bcat1 UTSW 6 144,994,488 (GRCm39) missense probably benign
RF004:Bcat1 UTSW 6 144,953,349 (GRCm39) missense probably benign 0.00
Posted On 2013-06-21