ZMP

pdxdc1

Ensembl ID:

ENSDARG00000007549

ZFIN ID:

ZDB-GENE-040912-16

Description:

Pyridoxal-dependent decarboxylase domain-containing protein 1 [Source:UniProtKB/Swiss-Prot;Acc:Q66HY

Human Orthologue:

PDXDC1

Human Description:

pyridoxal-dependent decarboxylase domain containing 1 [Source:HGNC Symbol;Acc:28995]

Mouse Orthologue:

Pdxdc1

Mouse Description:

pyridoxal-dependent decarboxylase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1920909]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa40115	Nonsense	Mutation detected in F1 DNA	Not yet available
sa33245	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa40115

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000027092	Nonsense	515	751	18	23
ENSDART00000144696	Nonsense	530	766	18	23

The following transcripts of ENSDARG00000007549 do not overlap with this mutation:

ENSDART00000143154

Genomic Location (Zv9):

Chromosome 3 (position 36551746)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	36497358
GRCz11	3	36639216

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTAAATCAGGTTTGAGCCCAGAACCACAGACCTGGATGAAGACAAAAGA[C/T]AAGACAGGGTGGAGAAGATCAACAGTGACTTGCTGAAGAAACTGATGGAG

Long Flanking Sequence:

TGAAGTTGTTCCTATAGATTTTTTTCATAATTTATAATATATATATTTTTGTATGACATTTGTCAATGAAAACACGCTTACACAAATTTAATCCACCAGCTTGTATACCTGCATGCTTGCTGAATGAGACCCATCGTCAGCACCCTCTACACAACTTTAAAGCGCAAACTATAAATCTACAGCAGATGATTATAATAAACAAATTGTTATTTTGCACTGCTGTGGCCACTAAAATTATTATTTTTATGGTGCTCTTTTCAATTATGGTTCTTTGTGTGAACAGATCAGTTTTGTGTTCTCTGGGAATTGAAAGTAGGATTTACTTTTCCAGCTGAGTTGCAGCAATAAGTTACAGTTACTGTTATCAGATCTTTACTAGCTCAGAATAAAAGAAAAACTCTTCTTACTGCACGTTTCTACATCGCCAAACAGGTTCTTTTATCTGTTTGTTTTAAATCAGGTTTGAGCCCAGAACCACAGACCTGGATGAAGACAAAAGA[C/T]AAGACAGGGTGGAGAAGATCAACAGTGACTTGCTGAAGAAACTGATGGAGCTGGACACAGATCTCAACTTCTCTGGTGGTAAATGACTGAATTTTTCTCATGAATCACAGCTGTGGTTTTTAATGCATATTCACTTGAAATCGTTTGTCCTGCATGCAGGTCCTGAGTTTAGTGAAGAGAAAAATTGCATATTTATTGGAATTGCAACAGAAGACCTGGATGTTGCAGAGCTGGTGGAAACTATAATGTCATTAGGTAGAGACATTGAAGAAAGTGGAAAGGTATATGTATGTTGGTTTATGTCTGTGTGCAAGTGTGTGTGTCAGGTAAAATAAATATTGAACATGTCACATGTATGAAGGCATGGAAAGCCCAGACAGCAGCTGAAATATCTCAGTGGTTACTTGGCAGCCCTGCTCCTCGTCAGATGTAAATTAATATTTGCTGCTTCAGTCTAAAAACCTACATTACCAGATGATGAAGATAAAACCAGGTTGGAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa33245

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 > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000027092	Essential Splice Site	541	751	18	23
ENSDART00000144696	Essential Splice Site	556	766	18	23

The following transcripts of ENSDARG00000007549 do not overlap with this mutation:

ENSDART00000143154

Genomic Location (Zv9):

Chromosome 3 (position 36551666)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	36497438
GRCz11	3	36639296

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTGCTGAAGAAACTGATGGAGCTGGACACAGATCTCAACTTCTCTGGTGG[T/G]AAATGACTGAATTTTTCTCATGAATCACAGCTGTGGTTTTTAATGCATAT

Long Flanking Sequence:

CACAAATTTAATCCACCAGCTTGTATACCTGCATGCTTGCTGAATGAGACCCATCGTCAGCACCCTCTACACAACTTTAAAGCGCAAACTATAAATCTACAGCAGATGATTATAATAAACAAATTGTTATTTTGCACTGCTGTGGCCACTAAAATTATTATTTTTATGGTGCTCTTTTCAATTATGGTTCTTTGTGTGAACAGATCAGTTTTGTGTTCTCTGGGAATTGAAAGTAGGATTTACTTTTCCAGCTGAGTTGCAGCAATAAGTTACAGTTACTGTTATCAGATCTTTACTAGCTCAGAATAAAAGAAAAACTCTTCTTACTGCACGTTTCTACATCGCCAAACAGGTTCTTTTATCTGTTTGTTTTAAATCAGGTTTGAGCCCAGAACCACAGACCTGGATGAAGACAAAAGACAAGACAGGGTGGAGAAGATCAACAGTGACTTGCTGAAGAAACTGATGGAGCTGGACACAGATCTCAACTTCTCTGGTGG[T/G]AAATGACTGAATTTTTCTCATGAATCACAGCTGTGGTTTTTAATGCATATTCACTTGAAATCGTTTGTCCTGCATGCAGGTCCTGAGTTTAGTGAAGAGAAAAATTGCATATTTATTGGAATTGCAACAGAAGACCTGGATGTTGCAGAGCTGGTGGAAACTATAATGTCATTAGGTAGAGACATTGAAGAAAGTGGAAAGGTATATGTATGTTGGTTTATGTCTGTGTGCAAGTGTGTGTGTCAGGTAAAATAAATATTGAACATGTCACATGTATGAAGGCATGGAAAGCCCAGACAGCAGCTGAAATATCTCAGTGGTTACTTGGCAGCCCTGCTCCTCGTCAGATGTAAATTAATATTTGCTGCTTCAGTCTAAAAACCTACATTACCAGATGATGAAGATAAAACCAGGTTGGATATTTTACCGAGACAATTATTCCAAACACACCCCAGGAAACTCTCGAGTGGTATCAGAAAATAGAGTGGCCCAGCCAATAA

Associated Phenotype:

Not determined