Busch Lab

ZMP

IDH2

Ensembl ID:
ENSDARG00000003795
Description:
isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:HGNC Symbol;Acc:5383]
Human Orthologue:
IDH2
Human Description:
isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:HGNC Symbol;Acc:5383]
Mouse Orthologue:
Idh2
Mouse Description:
isocitrate dehydrogenase 2 (NADP+), mitochondrial Gene [Source:MGI Symbol;Acc:MGI:96414]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa43120 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa13876 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa43120
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004692 Essential Splice Site 37 447 2 16
Genomic Location (Zv9):
Chromosome 18 (position 25893930)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26123613
GRCz11 18 26108131
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATGGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTTTTATTTGACA[G/A]ATGCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGA
Long Flanking Sequence:
ATCGTAATGCCATCTCTTTGATCATGTACAGAGCAGTGTTATAAAGGTAGTGCAATGCAGGCGCATGTGAAACGGTGTGTAAGTGTTTGCGAGACCAAAACATCCTCATTTGCTGGCTTGGTGCAGTTAAATGGCCTCCCTGGCAGTTTATTTTTTTCTTTTCATAGTAAATGATACATTATTTCTGTGCATTATTTATGAGCTTAATAGCTGATCCAGTGTCAGCAAGAATGACAGTTCAGTGCTAGTGATGCACAACGTGTTTCTTTAGAAACCAGAAATTGTACCGCCGACTAGTGACCAACCAGTGCAATGACTGCCAACATTTAGTGCCAAAGTCTCTAGTGGTGTGAACAGGGCTTTGTCTCTGTATTATTCTCCTACTTGAGGAACCACTCATTTCCGGGTGTCTCACAAGTGGGGTAAAAACACAATCACTTATTCAGGCTTGAATGGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTTTTATTTGACA[G/A]ATGCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGAGATGAGATGACCAGGATCATCTGGGAGTTCATTAAAGAAAAGGTGCTTAAACGGCAAGCGTCTGAGTGAGCGAAAGAATGAGGAGGAGGGAAGCAGTGTCTGTCTGGTCTATTTTTAAATCTGTGATACATACACACAAACAGAGAGAAACAGAACGCAGGAGGGAAAGATGTAGAGGGCAAAGGAAAGAGAAGTGAGTAAGAAGCCTAGACAGACACAGACAGAATGAAAATTGGGTTAGACAAGAGTAGAGAGACAAAAGGAGACGGAAATTGGAAAGGGAATGCGACAGCATCTCTAGGGAGAATTAAAGGGATGAGGAGAGAGTGGAGGAGTGATCGGCGTGTTATACAGATCTCCTTTTTTAAAGCGACGGCATGATAGGCTTACTGGGAGAGTTACGCGTGAAGACTGAGATTATGTTCGCGTCACGCAGGGGGCAGAGCCAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13876
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004692 Nonsense 37 447 2 16
Genomic Location (Zv9):
Chromosome 18 (position 25893928)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26123611
GRCz11 18 26108129
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATRGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTWTTATTTGACAGA[T/A]GCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGAGA
Long Flanking Sequence:
CGTAATGCCATCTCTTTGATCATGTACAGAGCAGTGTTATAAAGGTAGTGCAATGCAGGCGCATGTGAAACGGTGTGTAAGTGTTTGCGAGACCAAAACATCCTCATTTGCTGGCTTGGTGCAGTTAAATGGCCTCCCTGGCAGTTTATTTTTTTCTTTTCATAGTAAATGATACATTATTTCTGTGCATTATTTATGAGCTTAATAGCTGATCCAGTGTCAGCAAGAATGACAGTTCAGTGCTAGTGATGCACAACGTGTTTCTTTAGAAACCAGAAATTGTACCGCCGACTAGTGACCAACCAGTGCAATGACTGCCAACATTTAGTGCCAAAGTCTCTAGTGGTGTGAACAGGGCTTTGTCTCTGTATTATTCTCCTACTTGAGGAACCACTCATTTCCGGGTGTCTCACAAGTGGGGTAAAAACACAATCACTTATTCAGGCTTGAATGGAAAAACTGGCTTGTAAGAATAATTAGTTTTTGTTTTATTTGACAGA[T/A]GCCGATAAACGTATCCAGGTGGCACAGCCGGTGGTGGAGATGGATGGAGATGAGATGACCAGGATCATCTGGGAGTTCATTAAAGAAAAGGTGCTTAAACGGCAAGCGTCTGAGTGAGCGAAAGAATGAGGAGGAGGGAAGCAGTGTCTGTCTGGTCTATTTTTAAATCTGTGATACATACACACAAACAGAGAGAAACAGAACGCAGGAGGGAAAGATGTAGAGGGCAAAGGAAAGAGAAGTGAGTAAGAAGCCTAGACAGACACAGACAGAATGAAAATTGGGTTAGACAAGAGTAGAGAGACAAAAGGAGACGGAAATTGGAAAGGGAATGCGACAGCATCTCTAGGGAGAATTAAAGGGATGAGGAGAGAGTGGAGGAGTGATCGGCGTGTTATACAGATCTCCTTTTTTAAAGCGACGGCATGATAGGCTTACTGGGAGAGTTACGCGTGAAGACTGAGATTATGTTCGCGTCACGCAGGGGGCAGAGCCAGCAT
Associated Phenotype:
Not determined