Busch Lab

ZMP

adhfe1

Ensembl ID:
ENSDARG00000053518
ZFIN ID:
ZDB-GENE-040426-2070
Description:
hydroxyacid-oxoacid transhydrogenase, mitochondrial [Source:RefSeq peptide;Acc:NP_996969]
Human Orthologue:
ADHFE1
Human Description:
alcohol dehydrogenase, iron containing, 1 [Source:HGNC Symbol;Acc:16354]
Mouse Orthologue:
Adhfe1
Mouse Description:
alcohol dehydrogenase, iron containing, 1 Gene [Source:MGI Symbol;Acc:MGI:1923437]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa32995 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39904 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa32994 Essential Splice Site Available for shipment Available now
sa17509 Nonsense Available for shipment Available now
sa19835 Nonsense Available for shipment Available now
sa25118 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa32995
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075551 Essential Splice Site 128 477 5 14
ENSDART00000110177 Essential Splice Site 160 509 6 15
Genomic Location (Zv9):
Chromosome 2 (position 42208643)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 42258107
GRCz11 2 42107525
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAAACACAAGCTCTATGAGGATGTACGAGTAGAACCAACAGACAAAAGG[T/C]GAAAATGCAACAGAAAATGTGTCAAAAACATAAAAAAAACACGCCTGCAT
Long Flanking Sequence:
TGCAACCCATCACTGGGAAACATCCATACACAGTCATTCACACACATACACTACAGACAATTTAGTCTACCCAGTTCACATACAGTACATGTCTTTGGACTTGTGGGGGAAACCGGAGCACCTGGAGGAAACTCATGCAAACATGGGGAAAACATGCAAACAACACAGAAATGCCAACTGGCCCAGCCGAGGCTCGAACCAGCAACCTTCTTGCTTTGAGGCAATTGTGCTACCCACTGCGCCACCGTGCAGCCCTACTTAATGTTTGCATAATACTTTAAAATCTCTGTTCAGTTCAGTTTTGGAGTCGACGGTCATTAGTTGTTATTGTATGATTTGATCAGGATTTGCAGAACATGGGAGCACGTAATGTGTGTCTGATGACTGACAGGACCTTGTCTCAGCTGCCGCCAGTCGCAGCAGTTCTGGACTCACTGATAAAACATGGAGTCAAACACAAGCTCTATGAGGATGTACGAGTAGAACCAACAGACAAAAGG[T/C]GAAAATGCAACAGAAAATGTGTCAAAAACATAAAAAAAACACGCCTGCATTTTCTCACAACACATGCAAATAGAACAGAACACAACAGAAATGTTTCAAAAACCCAAAAACGTGACGGACCTGGCTGGGATTTGCTTAATGGGCTGTGACTAGTTCAAGTTCAAGTTGCTTTATTGGCATGACATTCAGTACAGTATTGCCAAAGCAATTTAAATATGCAATATATTAAAACCATAAAAAAATAAAATAAAAAAAAAATTATAATAGTAATACAGTAGATAAGAAATAATGACAAAAAACAGAATACATTTGATAAATATAACAATAATAATAATAATAATAATAATAACAAGTTTAAATTATTTAAATAAGATACATAAATTTACATTAACCATTTCTTTTGATGTTTAGGGTGTATACATATTTTACAGCAAGTCTAGATGTCAATTCATTCTCTCTGAGTACATGGTAAAGTTTTTCTGAGTCATTAAAATATAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39904
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075551 Essential Splice Site 194 477 6 14
ENSDART00000110177 Essential Splice Site 226 509 7 15
Genomic Location (Zv9):
Chromosome 2 (position 42206887)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 42256351
GRCz11 2 42105769
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCGGAAAAGGAAAACCCATCACAGCCACCCTGAAGCCACTAATCGCTGG[T/C]ACAAACGCATACATAGAGAAATCCTCATTGTTACTTTCTTTTTTGCCTTC
Long Flanking Sequence:
AAATAGTCGTGTCCGTCACATTTTAGGGTCCCCTTAAAACATTTGTGTTGTACTCCATGCTATTTGCATGTTTTGTAAGAAAGTGCAGGTGTTTTCTTAATTTGTTTGCGTTGTTGGGAAAATGCAGTGTGTTTTTATGTGTTTGCAACATGTCAAACTGATGAGGATCTTTTAATAATATGCTGGCGTTTTTTGTAATTGCATCTGTTTTCTTAAATTGCAGAACGGTAAGCTCTCGAGGAAGTTGATTAGTAAAGTAGTGTGTGATTATTATATATTTTTTTGTATTATTTTGTGTTCAGCTTTAAAGCAGCAATCGATTTTGCCAAAAAAGGGCATTTTGATGTGTATGTTGCTGTGGGCGGCGGCTCTGTGATTGACACCTGTAAAGCAGCCAATCTTTATGCATCTCATCCGGAGGCAGAGTTTCTAGACTTCGTCAATGCACCAATCGGAAAAGGAAAACCCATCACAGCCACCCTGAAGCCACTAATCGCTGG[T/C]ACAAACGCATACATAGAGAAATCCTCATTGTTACTTTCTTTTTTGCCTTCCTTTCTCTCGGCCCAGTTACTTTTACTGACCATCTGCATAAACAGATGAAGAGTCCAAACAATTGAAACATAGCACAGATACTGTATGCTGATTAATGATAGTTGTTTGTGTATATTTTTTGTGTCTGCATATTTAAGTTCCCACTACAGCTGGAACGGGGAGTGAAACCACAGGAGTGGCGATCTTTGACTTGGAGGACATGAAGGCCAAAACTGGTCCGTGAAACGAATTACTCATTAATATTTCAGCACTGTTCTTTGAATATCAAGAACTCAGTATTGTTAAGCATTTGTTTTGTATAAAAAAAGATCAAAGTAGAATTGAAGGCAAAATTATTAGCCCTCCTGTGAAATGTTAAATCTTCCTCAGATATTCCCTGTTTAATAAAGAGAAAAACTTTTTAACACATTTTTAAATATAATAGTTTTAGTAACTAATGTTTAATAACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32994
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075551 Essential Splice Site 220 477 7 14
ENSDART00000110177 Essential Splice Site 252 509 8 15
Genomic Location (Zv9):
Chromosome 2 (position 42206619)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 42256083
GRCz11 2 42105501
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCACAGGAGTGGCGATCTTTGACTTGGAGGACATGAAGGCCAAAACTGG[T/A]CCGTGAAACGAATTACTCATTAATATTTCAGCACTGTTCTTTGAATATCA
Long Flanking Sequence:
TATTATATATTTTTTTGTATTATTTTGTGTTCAGCTTTAAAGCAGCAATCGATTTTGCCAAAAAAGGGCATTTTGATGTGTATGTTGCTGTGGGCGGCGGCTCTGTGATTGACACCTGTAAAGCAGCCAATCTTTATGCATCTCATCCGGAGGCAGAGTTTCTAGACTTCGTCAATGCACCAATCGGAAAAGGAAAACCCATCACAGCCACCCTGAAGCCACTAATCGCTGGTACAAACGCATACATAGAGAAATCCTCATTGTTACTTTCTTTTTTGCCTTCCTTTCTCTCGGCCCAGTTACTTTTACTGACCATCTGCATAAACAGATGAAGAGTCCAAACAATTGAAACATAGCACAGATACTGTATGCTGATTAATGATAGTTGTTTGTGTATATTTTTTGTGTCTGCATATTTAAGTTCCCACTACAGCTGGAACGGGGAGTGAAACCACAGGAGTGGCGATCTTTGACTTGGAGGACATGAAGGCCAAAACTGG[T/A]CCGTGAAACGAATTACTCATTAATATTTCAGCACTGTTCTTTGAATATCAAGAACTCAGTATTGTTAAGCATTTGTTTTGTATAAAAAAAGATCAAAGTAGAATTGAAGGCAAAATTATTAGCCCTCCTGTGAAATGTTAAATCTTCCTCAGATATTCCCTGTTTAATAAAGAGAAAAACTTTTTAACACATTTTTAAATATAATAGTTTTAGTAACTAATGTTTAATAACTATTTTTTTTTGTCTTTGCCATGTTGACAGTACATAATATTTTACTAGTCATTTTGCAAGACACTAGTATTAAGCTTAAAGTGACATTTAAAGGCTAAACTAGACTAGTGGTTTGTTCCAAATGAAAAAAATAATATTGACTATAAAAACTATAAGAAAATATATGTAAAAACTGCTTTTATACCTGCCAAACAAACAAAAATTTCTCCATAAATAAAATATAACAGAGTTTAACAGAATTTTTTTTATTTGCTTTGTTTAACAGTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17509
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075551 Nonsense 224 477 8 14
ENSDART00000110177 Nonsense 256 509 9 15
Genomic Location (Zv9):
Chromosome 2 (position 42205816)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 42255280
GRCz11 2 42104698
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGTTTATATTTAGCCCATTGATGTGTRTGTTTTTCAGGCATCGCAAAT[C/T]GAGCCTTAAAACCTACATTGGGAATGGTGGATCCTCTACATACTCTTCAC
Long Flanking Sequence:
AAGCTTAAAGTGACATTTAAAGGCTAAACTAGACTAGTGGTTTGTTCCAAATGAAAAAAATAATATTGACTATAAAAACTATAAGAAAATATATGTAAAAACTGCTTTTATACCTGCCAAACAAACAAAAATTTCTCCATAAATAAAATATAACAGAGTTTAACAGAATTTTTTTTATTTGCTTTGTTTAACAGTTCTTAGGAAATATATATAAAAAAAAAGAAAAATATCACAGGAGGGCTAAACCAAAAGGTCTTCAACAGGTGAAAAATCAAAAACATCAAAAAAGACAAAAAAAATTGTTTGCACACTCGTATTTTTATTTTATTAGCAATGATTTATTAACACAAGCAATGTCTTGTGTAAGTCTGGTAAAGATCTTTGAAAAATTTCTATAATTAAGTTATTAAAGATCATGCATATTAGTAAATGTTCACTATTAATGTTATTTGTGTTTATATTTAGCCCATTGATGTGTGTGTTTTTCAGGCATCGCAAAT[C/T]GAGCCTTAAAACCTACATTGGGAATGGTGGATCCTCTACATACTCTTCACATGCCATCCAGAGTGGCAGCTAACAGCGGGTTTGATGTGCTCTGGTGTGTATTTTTTACATTCACATTTTAATTATTAACTACATTATGTGGATCAAAGATATTGCAACAATAATGTAACAACTTTAAATGTTTTTTTTTTAATCTCTGTGAATCCTTTTGCATCCTGTTAATGGCATAATGACTATTACACATTTTACCATGATTTAAATTTGTCCATCTGCCCCACACTGACTCATTTGCCCACTTCATGCAAACTTACACTCCCCATAACTATAGGGTATATGCCGAGCTAGTGCTGTTCCCATGCTGATACACTTCCGGTGACCTGTTATTGTGTACTTTTTTCCATTTTATACGGTTTCTTATACAGCATCGATGTTGTAATGTCATTAAAATACATTCAGTTAAATAAACTTTAGCATTTATTTAGTTGCTCAAGCGTAAAACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19835
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
ENSDART00000075551 Nonsense 272 477 9 14
ENSDART00000110177 Nonsense 304 509 10 15
Genomic Location (Zv9):
Chromosome 2 (position 42204115)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 42253579
GRCz11 2 42102997
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGCATTAGAGTCATTCACAGCATTGCCGTATAACCTGCGTAGCCCCTG[T/A]CCGCCAAACCCCATCAGCCGGCCCGCTTACCAGGGGAGCAATCCAATCAG
Long Flanking Sequence:
GTGTAATGACAAAGTTGAATCTAATCTCTAAAATGCAATTCACTGTACAAATATGTTCATCTGTTTCAAAGATTTTTGACTGCCATATTTGCAACCAGTATAATTTGATGACATTAAAATACTCTTTAAAGATAACAGTGCAGCACCAACACACTCGTTTGTTATCTACAAACTTTATACTTTGCTATATACTTTGCTGTTATACCACAAACCTTTTTACCAGCAATACAGTTTTATTCATTTTAAATACAATCAAATGAAATATGATCACTTTCATTTATTTGAACAAGAACAGGTCATCATGCTACTATATTTGTACAGCTCAGTTATGCAGAATGATGATTGAACATATTCATATATTATCACTGTTCATTTGTAATCTGTAAGGATGCCTTTTTCTATCATAGTTTTATTAGATTGATTTTTTAATTTGATCTTTCTTTTTCTAGTCATGCATTAGAGTCATTCACAGCATTGCCGTATAACCTGCGTAGCCCCTG[T/A]CCGCCAAACCCCATCAGCCGGCCCGCTTACCAGGGGAGCAATCCAATCAGTGATGTTTGGGCAAAGCACGCTCTCCGGATCGTCGCTAAATACTTGAAACGGTATGTTTTTGGGATGTGAAAGGATGTGCATTATATGTTTTAGTGAGACATTAGATTTGATACATTTTATAAGTACAATATTTAAATATACAGTTGAAGACCAAATGATTCGCCCTCCTGTGAATCTTTGCTTCTTTTTCAAATATTTCCCAAGTGATGTTTAACAGAGCAAGGAATTTTTCACAGTATTTCCTATAATATTTTTTCTTCTGGAGAAAGTCTTATTTGTTTTATTTTGTCCAGGATAAAAGCAGTTTGAAAATTTTTCAAATCCATTTTTTGAAAATTTTATTAGCCCTCTTAAGCTATATATTTATTTCAGATTGTCTACAGAACAAACCATCAAAATGATTTGCCTATTTATCCTAACTTGCCTAATTAACCTAGTTAAACCTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25118
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
ENSDART00000075551 Essential Splice Site 306 477 9 14
ENSDART00000110177 Essential Splice Site 338 509 10 15
Genomic Location (Zv9):
Chromosome 2 (position 42204013)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 42253477
GRCz11 2 42102895
KASP Assay ID:
554-7303.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGTTTGGGCAAAGCACGCTCTCCGGATCGTCGCTAAATACTTGAAACG[G/A]TATGTTTTTGGGATGTGAAAGGATGTGCATTATATGTTTTAGTGAGACAT
Long Flanking Sequence:
ATTTGATGACATTAAAATACTCTTTAAAGATAACAGTGCAGCACCAACACACTCGTTTGTTATCTACAAACTTTATACTTTGCTATATACTTTGCTGTTATACCACAAACCTTTTTACCAGCAATACAGTTTTATTCATTTTAAATACAATCAAATGAAATATGATCACTTTCATTTATTTGAACAAGAACAGGTCATCATGCTACTATATTTGTACAGCTCAGTTATGCAGAATGATGATTGAACATATTCATATATTATCACTGTTCATTTGTAATCTGTAAGGATGCCTTTTTCTATCATAGTTTTATTAGATTGATTTTTTAATTTGATCTTTCTTTTTCTAGTCATGCATTAGAGTCATTCACAGCATTGCCGTATAACCTGCGTAGCCCCTGTCCGCCAAACCCCATCAGCCGGCCCGCTTACCAGGGGAGCAATCCAATCAGTGATGTTTGGGCAAAGCACGCTCTCCGGATCGTCGCTAAATACTTGAAACG[G/A]TATGTTTTTGGGATGTGAAAGGATGTGCATTATATGTTTTAGTGAGACATTAGATTTGATACATTTTATAAGTACAATATTTAAATATACAGTTGAAGACCAAATGATTCGCCCTCCTGTGAATCTTTGCTTCTTTTTCAAATATTTCCCAAGTGATGTTTAACAGAGCAAGGAATTTTTCACAGTATTTCCTATAATATTTTTTCTTCTGGAGAAAGTCTTATTTGTTTTATTTTGTCCAGGATAAAAGCAGTTTGAAAATTTTTCAAATCCATTTTTTGAAAATTTTATTAGCCCTCTTAAGCTATATATTTATTTCAGATTGTCTACAGAACAAACCATCAAAATGATTTGCCTATTTATCCTAACTTGCCTAATTAACCTAGTTAAACCTTTTAATGTCACTTTAACTTGAAAACTAGCATCTTAAAAAATATCTAGTAAAATATTATGTACTGTCATCTATGCAAATATAAAAGAAATCAGTTATTAGAAAACTA
Associated Phenotype:
Not determined