Incidental Mutation 'IGL01882:Bcat1'
ID 179048
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 # IGL01882
Quality Score
Status
Chromosome 6
Chromosomal Location 144939561-145021883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144950135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 354 (T354M)
Ref Sequence ENSEMBL: ENSMUSP00000107371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032402] [ENSMUST00000048252] [ENSMUST00000111742] [ENSMUST00000204138]
AlphaFold P24288
Predicted Effect probably damaging
Transcript: ENSMUST00000032402
AA Change: T421M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: T421M

DomainStartEndE-ValueType
Pfam:Aminotran_4 160 410 1.3e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000048252
AA Change: T354M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: T354M

DomainStartEndE-ValueType
Pfam:Aminotran_4 111 354 5.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111742
AA Change: T354M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: T354M

DomainStartEndE-ValueType
Pfam:Aminotran_4 111 354 1.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145911
Predicted Effect probably benign
Transcript: ENSMUST00000204138
SMART Domains Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268

DomainStartEndE-ValueType
Pfam:Aminotran_4 34 180 9.1e-17 PFAM
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T C 7: 119,373,858 (GRCm39) L248S probably damaging Het
Arhgef17 A T 7: 100,527,787 (GRCm39) C734* probably null Het
Fancd2 T C 6: 113,523,601 (GRCm39) V246A probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3696 G T 14: 18,433,062 (GRCm39) Q199K probably benign Het
Ifna2 A G 4: 88,601,979 (GRCm39) V13A possibly damaging Het
Letm1 A G 5: 33,927,009 (GRCm39) V96A probably benign Het
Mcm3ap A G 10: 76,319,018 (GRCm39) I749V possibly damaging Het
Mkln1 A G 6: 31,428,469 (GRCm39) N266S probably benign Het
Or8b35 A G 9: 37,903,856 (GRCm39) T18A probably damaging Het
Pdia4 A G 6: 47,780,412 (GRCm39) L307P probably benign Het
Ptprz1 C T 6: 23,000,463 (GRCm39) P851L probably damaging Het
Other mutations in Bcat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Bcat1 APN 6 144,946,015 (GRCm39) missense possibly damaging 0.89
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 2014-05-07