Incidental Mutation 'IGL03157:Bcat2'
ID411297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcat2
Ensembl Gene ENSMUSG00000030826
Gene Namebranched chain aminotransferase 2, mitochondrial
SynonymsEca40, Bcat-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL03157
Quality Score
Status
Chromosome7
Chromosomal Location45570153-45589711 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45575498 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000113045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000120864] [ENSMUST00000209204] [ENSMUST00000210811] [ENSMUST00000211173]
Predicted Effect probably benign
Transcript: ENSMUST00000033098
AA Change: I31T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: I31T

DomainStartEndE-ValueType
Pfam:Aminotran_4 101 351 5.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120864
AA Change: I31T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: I31T

DomainStartEndE-ValueType
Pfam:Aminotran_4 119 370 7.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210623
Predicted Effect probably benign
Transcript: ENSMUST00000210811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211209
Predicted Effect probably benign
Transcript: ENSMUST00000211173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210866
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 a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G A 6: 142,605,923 probably benign Het
Adam30 A C 3: 98,162,296 K482Q possibly damaging Het
Aqp4 T C 18: 15,399,980 R19G probably benign Het
Arhgap32 C T 9: 32,259,134 P1070L probably damaging Het
Csmd2 T A 4: 128,414,299 C1283* probably null Het
Fasn A G 11: 120,807,909 I2487T probably benign Het
Gys1 A G 7: 45,439,899 probably benign Het
Helz A G 11: 107,577,888 D79G possibly damaging Het
Il16 T C 7: 83,722,403 D65G probably damaging Het
Iqgap1 C T 7: 80,751,888 E490K probably benign Het
Kcnv2 A G 19: 27,323,966 K406E probably damaging Het
Kif26b T A 1: 178,916,365 L1342H probably damaging Het
Nlrp3 A G 11: 59,549,546 K650E possibly damaging Het
Olfr1076 T C 2: 86,509,023 L188P possibly damaging Het
Olfr1348 A G 7: 6,501,893 L111P probably damaging Het
Olfr1360 T C 13: 21,674,942 M1V probably null Het
Opn1sw T A 6: 29,379,804 N144Y possibly damaging Het
Ovol1 T C 19: 5,551,607 H129R probably benign Het
Pigv T C 4: 133,665,530 S110G probably benign Het
Pole T A 5: 110,293,753 F253L probably benign Het
Samd3 T C 10: 26,263,842 Y291H probably benign Het
Slc4a4 T A 5: 89,156,513 I605N probably damaging Het
Sult1a1 T A 7: 126,675,317 Y58F probably damaging Het
Tfrc T A 16: 32,620,405 D362E probably benign Het
Thnsl2 T C 6: 71,131,946 T294A probably benign Het
Tnfsf10 G A 3: 27,325,957 G57R possibly damaging Het
Vps25 A T 11: 101,256,897 N73I probably benign Het
Wdfy1 G A 1: 79,706,318 H367Y probably damaging Het
Zfp568 T C 7: 30,022,764 L378P probably damaging Het
Other mutations in Bcat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Bcat2 APN 7 45588260 missense probably damaging 0.97
IGL02383:Bcat2 APN 7 45588007 missense probably damaging 1.00
IGL03226:Bcat2 APN 7 45588354 missense probably damaging 1.00
P0022:Bcat2 UTSW 7 45588345 missense probably damaging 1.00
R1251:Bcat2 UTSW 7 45575986 missense probably damaging 1.00
R1940:Bcat2 UTSW 7 45588368 missense possibly damaging 0.76
R5446:Bcat2 UTSW 7 45585145 missense possibly damaging 0.88
R6243:Bcat2 UTSW 7 45588267 missense probably benign 0.19
R6932:Bcat2 UTSW 7 45589321 missense probably damaging 0.98
R7336:Bcat2 UTSW 7 45575485 missense probably benign 0.00
R7434:Bcat2 UTSW 7 45576005 splice site probably null
R7645:Bcat2 UTSW 7 45587963 missense probably benign 0.04
R7732:Bcat2 UTSW 7 45585193 missense possibly damaging 0.65
R7736:Bcat2 UTSW 7 45585193 missense possibly damaging 0.65
R8140:Bcat2 UTSW 7 45588351 missense probably damaging 1.00
Posted On2016-08-02