Busch Lab

ZMP

bcat2

Ensembl ID:
ENSDARG00000054849
ZFIN ID:
ZDB-GENE-040718-425
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
sa33190 Nonsense Mutation detected in F1 DNA Not yet available
sa20027 Nonsense Available for shipment Available now
sa33189 Nonsense Mutation detected in F1 DNA Not yet available
sa16687 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa33190
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077119 Nonsense 32 414 3 11
ENSDART00000136819 Nonsense 24 406 2 10
ENSDART00000139310 None None 391 None 11
Genomic Location (Zv9):
Chromosome 3 (position 30111204)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 29829243
GRCz11 3 29960085
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAATAAACAGCTCTCCACGTGCCCCGCTGTACTCCCCACCCCTCTCTG[T/A]CTTTTCGTTTTCTCTCCCTTTTTTTGTCTCTTTCTCTCTCTCTGTCTTCC
Long Flanking Sequence:
TTTATAATGCATAATAGTGGCTCTTTAATATTTATTTTATGTTTGTACATTTTTAATCAAACTTTTGACCTCTTGATCATATAAACAGGAGTAGATATCTGAATACATACTTTAAATTGTAAAAAAAAAAAAAAAAGTCTTTCCATTGGCCAATATAGTTACTATTAACTGACTGAATTTACATAGATGTATGATATGAGATGACTTTTATTGTGATATATTTTTGTCACATCGCCCAGCCCTATTTTAAGTGTCTAGCAGTGTCACCTTCTGGGATCTGACATCTCTTTTTTTTTTTGTGCTTTCACCCTCTTGCATGCTTTCTTTCTTTCTTCCAAACAACCCCCTTTCATTTTTTTCACAGCAATTTAATTGAATTCAATTTCCATAAGAGCTTGAGCATGATGAATCCAGATTATTTTTTTTCATATGCATGTGCAATCAGTGACAATGAATAAACAGCTCTCCACGTGCCCCGCTGTACTCCCCACCCCTCTCTG[T/A]CTTTTCGTTTTCTCTCCCTTTTTTTGTCTCTTTCTCTCTCTCTGTCTTCCCAATTGTTTATGTCAGGCTGCAGATCTGACCATCGAGAAGAGCTCGGTGCTGAAGCCAAAGCCAGATCCGTCAACGCTCGTGTTTGGCAAGCAGTTTTCAGACCACATGCTGACCATCAGCTGGTCTGCAGCAGGAGGATGGGAGAACCCTCAGATCAAGCCCTTCCAGAATCTGTCCCTTCACCCAGCATGCTCAGCCCTACATTACTCAATAGAGGTGGGAGAGCACAAAAAATGTCACTTTTTCTCGTTTAGTGGATTTAACAGTGAGGGTAAAAATGTGGTAATTACAGGGATCGTTCACCCAAAAGTTTGAATTTAGTCACATTCAAGGAGTTGTAAACTTTAATGAGTTTCTGTCTTCTGTTGAACACAAAATATATTCTGAAGAACGTTGGAAATTAACAGCCATTGACATCCATAGTATGAAAGTCAGTGGCGTTTTTTTAC
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
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:
sa33189
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077119 Nonsense 255 414 7 11
ENSDART00000136819 Nonsense 247 406 6 10
ENSDART00000139310 Nonsense 232 391 7 11
Genomic Location (Zv9):
Chromosome 3 (position 30107201)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 29825240
GRCz11 3 29956082
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCTGCGGGTCTAAATGCTGCAATTGTGGCTTCTGTTTGTCAGCAACTA[T/A]GGGCCGACCATCGCTGTCCAGAATGAGGCGGCAAAGCAAGGCTGTCAGCA
Long Flanking Sequence:
CAAATTCCAGAAGAGCCATTCCAGATCTGCCCCGGAGTTTAGTTATTTGTCACACTCCATTGCCTCGCTCAATGCCACGAGCCAAACATTTGTGTTTTACATTTGCCAGTTTGGAGTCTAGGAGTAGCGATTCTACGTCAGACTGTTCAGAGAATTGAAGTAGCTTTACTAGTCTAGTCACATGCAACTAGGGATTGCAACTAGGGAATCCTCACCCTTCACTTTAATGCGGCTCTGCTTCTGTTTATGTGCTTTTTATCAGCTGCTCCTCGCCTTCTTATCAGGCCTTATCTGACCGTCACATTAAGCATTTAAGGCCCACTTTAGCAAAGCTCCTGCTGCTGCCCTTTAGTGTTCAGATAATGTGTAGACTGTTTATATAATGAATCACAGTGTTTTACTGTTGATTATAAAGCACTTTCTTTCTCGGATGTGTGTTTAAATGTAGTAATGCTGCGGGTCTAAATGCTGCAATTGTGGCTTCTGTTTGTCAGCAACTA[T/A]GGGCCGACCATCGCTGTCCAGAATGAGGCGGCAAAGCAAGGCTGTCAGCAGGTCCTCTGGCTGTATGGAGAGAGTGAGGAGATCACTGAGGTCGGCACCATGAATCTCTTCATCTACTGGACCACAAAGAAAGGAGGTGAGATGGTGAACCGCTTCCAGAGTGCTTCTGCAGTTGAAGTGTGTGGTTCAGCTGCATTTAGGCCTCATTTTCATCTGGTGTAATGATTTGCTTTTGACAATCTTATCGTAAGTAAATAACACTAAATACAAGTGTCAATGTGGTCTATAACACTTTGAATTTGTCCACCTTTAAACACTTCAAGAAGCATTTGAATACTCGTCCTAGTTTGGTGAAATCCATTAAAACAGAGCGTGACCAAATAAGAGGCAAGAGTCTTGACCAACAATCAAATGCAAGTAGTGTGGAAAAATACATCCTAATATAAGGTAAAAACAAAGTTTAACACTGTCCCAACAACATACATCGCGATAAGATTCAA
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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