ZMP
bcat2
Ensembl ID:
ZFIN ID:
Description:
branched-chain-amino-acid aminotransferase, mitochondrial [Source:RefSeq peptide;Acc:NP_001002676]
Human Orthologue:
BCAT2
Human Description:
branched chain amino-acid transaminase 2, mitochondrial [Source:HGNC Symbol;Acc:977]
Mouse Orthologue:
Bcat2
Mouse Description:
branched chain aminotransferase 2, mitochondrial Gene [Source:MGI Symbol;Acc:MGI:1276534]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20027 | Nonsense | Available for shipment | Available now |
| sa16687 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20027
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077119 | Nonsense | 210 | 414 | 6 | 11 |
| ENSDART00000136819 | Nonsense | 202 | 406 | 5 | 10 |
| ENSDART00000139310 | Nonsense | 187 | 391 | 6 | 11 |
Genomic Location (Zv9):
Chromosome 3 (position 30109111)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 29827150 |
| GRCz11 | 3 | 29957992 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTTCTTGTTTCAGCCTTCACTAGGTGTTTCTCGAGCTGGTCACGCGT[T/A]GCTGTTTGTCATCGTTGGACCCGTTGGACCTTATTTTGCCACTGGAAGTT
Long Flanking Sequence:
CATATATATATTTCATCTTGTACATGTTTTTTTTTTTTTAGCTCTTTGAGGGTATGAAGGCCTTTCGGGGAGTGGACAACAACATCCGCCTCTTCAGGCCTATGCTGAATATGGAGCGCATGCATCGGAGTGCTGAAAGGAGTTGTCTGCCTGTTAGTCTTCATTACACAGCTACTTCAGCTTAATGGATGATGATCAGTGATATTATCATATTTCACTTAACTCAATATGTGGGCTGGATATTCCTAACGTATTCTCTCCTTCTCTTTCAGTTGTTTGATAAGGCTGAACTGCTGAAATGCATCAATAAGCTGGTTGAGACTGACCAAGAATGGGTTCCTTACTCCACAGATGCCAGCCTGTACATCAGACCAACATTCATAGGAACCGAAGTAAGAAGCGTTAGATGTTACAAAGTCACCAGATTGAGGATTTTAGTGTTTTTTTATCTTTCTTCTTGTTTCAGCCTTCACTAGGTGTTTCTCGAGCTGGTCACGCGT[T/A]GCTGTTTGTCATCGTTGGACCCGTTGGACCTTATTTTGCCACTGGAAGTTTTAATCCGGTGTCCTTGCTGGCAGATCCTCGATACGTCCGGGCCTGGAGGGGTGGCGTCGGAGAGTACAAAATGGGCGGGTGAGTTTTTAATAAGTGCGATCACATACAGAGCTGAATGGTTAGTTGTAAAAGATTCTGATCTTCATTTAAGCTCCCAACCAATATTGTTACTTAATGACAATGATTCAGCTATGTCTATTAAAACTTAAACAAGTTCTGTCACAGCCTTATAGTTCAGGTTTGCATTTAACCCAGACAAAAAGAGTTTCTGAGAATGGCAATTAAAAGGACTTTTCAGTCATGCCTTATTTGTATTTCTTTGGGATAAAACAAAATAGTTTGGATTTAAACAACTTTTGAAAGAAATTGAAAGCTTAAAATAAAAATTAAATCAGGTACTATGTAACTGTTAAAAATATGCGTCAGTGAAACGTTAGTTCAAGAGTTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16687
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077119 | Essential Splice Site | 301 | 414 | 8 | 11 |
| ENSDART00000136819 | Essential Splice Site | 293 | 406 | 7 | 10 |
| ENSDART00000139310 | Essential Splice Site | 278 | 391 | 8 | 11 |
Genomic Location (Zv9):
Chromosome 3 (position 30104579)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 29822618 |
| GRCz11 | 3 | 29953460 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGTGATGCACATAAGTGCATCTCAATTCATGGGCATTGGTGTGTGTTTTC[A/T]GAAAAAGAGCTGGTCACYCCTCCACTTGATGGCGTCATTCTTCCAGGAGT
Long Flanking Sequence:
TACTTAAGTGATTTTAGTTGTGTCCGGTATCTTAGGGGATTCTTGCAGTCATGAATAGCTTAATTTCAGATTATTGCCATTTGTACACACAAAGTCTCATATTAACAAAATCTCAAATTTTGGAGCTTTCTATAGTAAAAAATCCTCATTTTAAGTTTAAATGATTTATTTAATTAGCTAGGAATAGCACTTTTAAGGGAAGAATGTGTTTTTGTAAAGTCTTTAAAATCATGAATGAATAAGTCATGGAACCATTTTTTTTATGAAATGGGAGACTTAAAGAGACCATATTGTTTCTGGCTTGTTTCTCACTCTCAAAATAGCAGGTCAAATCAAGGGTATTGCATTATGGGAATCAGTTCGTCATGCAGTGTGCCCTGCTGTTTAGTTTGGCAAGGTGTTGACATGTAGTCGAATTTTGTTATTGCATACAAAATGTCTCCCTCTGCTGGTGATGCACATAAGTGCATCTCAATTCATGGGCATTGGTGTGTGTTTTC[A/T]GAAAAAGAGCTGGTCACTCCTCCACTTGATGGCGTCATTCTTCCAGGAGTCACCAGACAGTCTCTGCTGGACCTCGCCAGAGAATGGGTGAGAAACAAGAGCAGATGATGATGTAAAAAAGGGAAAGTTTGCGTTAAGTAAAAGGAAATGTGATCTGAATAATAGATTATACTTAATAGCATTTACATTAGTTTTAACAGAATTATGACGCATTTTATATTTTTATGAAGTATTTGTATAGTCATATAATAGTTTTTGCAATATTGTTTGTTTTTTTCCTTAAATGGTTTTAAATTGGTTGTTTTTTTAAACTGAAAGGCTTAAATGCATTGCAATTTAAGCCCAATAACAGTGTAGAGAAAAAATCCAGAATATCTATGAGTTAATCATGTCTACAGGAATATCACTGTTTTTATATCTTGGAGTTAAGCTTTTTATTTTTTATTATTATTATTTTTTTAAAGCGAAAATTGTTTTCATTTTATTATTTATATCTATAA
Associated Phenotype:
Not determined