ZMP

ptcd1

Ensembl ID:

ZFIN ID:

Human Orthologues:

PTCD1, RP5-900K19.1

Human Descriptions:

Pentatricopeptide repeat-containing protein 1 [Source:UniProtKB/Swiss-Prot;Acc:O75127]
pentatricopeptide repeat domain 1 [Source:HGNC Symbol;Acc:22198]

Mouse Orthologue:

Ptcd1

Mouse Description:

pentatricopeptide repeat domain 1 Gene [Source:MGI Symbol;Acc:MGI:1919049]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa32591	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa32590	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa32591

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000114613	Essential Splice Site	306	697	4	8

Genomic Location (Zv9):

Chromosome 1 (position 7638061)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	7877866
GRCz11	1	8561977

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATCAGCTGTGTGAATGACAAGCAGCATGGGTTCAGACTGGCTTTACAGG[T/A]ACATACACACACCTACTGACTAGAAACAACAGCTAATTGTGGGCATTTAT

Long Flanking Sequence:

ATCTGACTCCAGCGTCAGATCTACACAAAAAGCAAGTACTACCTCAGATTAGTTTTTTCTAAATCTGAGGTAAATAATTATCCAGTGTTGTTCTTATAGTGGGTATTAAAACCATTTAAATGTTATGTTATTATTGTAACATTATTATTATTATTATTACAAACTCAATAGTGGGCTTGTTTTTTAATTCAAAATATGTCATGGACACTCAGCCTTTTAGTCAGTGAAAATTAAAGAAAAGGAAATTGAGTGGGAACCATGAATATGCCATTGATTTATACAGTTATTATATTGATATAATAATGTATATTATTATATATACAGTGATATTATTATATAATAATGTATATAATATATACAGTGACATTATTTGCTTTGTGTGTTAATACATGTATAGGAGATGCTTCAGAATGGCCAACCAATCACACAAGAGACATTTCAGTATCTGCTGATCAGCTGTGTGAATGACAAGCAGCATGGGTTCAGACTGGCTTTACAGG[T/A]ACATACACACACCTACTGACTAGAAACAACAGCTAATTGTGGGCATTTATTGATAGTCTTGTAATTGTTCTTGTCGGCTGGCAGCTAGCTCTCTGCAACTCTCATGGTCACCAACCGAAGCTAAGCAGCGATTTGGGAGACTATTTGGAAAGCTTGGTTGCTGTTGGAAGTGGTGTTAGTGAGACTAGCAGGGGCGCTCAACCTACAGTCTGTGTGGGTCCTAACACCCCTAGTATATTGATGGGCACTCTATATTGCTCAGTGAGCACCGTCTGTAAACTGAGGTCCTGACTCTCTGTGGTCGGTAATAATCCCAGAATGTCCTTTGAAAAAGAGTAAGGGTTTAACCCCGGCATTCTGGCCAAATTTGCCCACTGGCCTCGGTCCATCATATTCTCCTAACCATCCCCATATAAAAATTGGCTAATTTGGCTTCATCATACTGTCTCCTTTCCATCAATCAGCTGGTGTGTGGTGTGTGGTCTGCCATAGTATGGCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32590

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
ENSDART00000114613	Nonsense	694	697	8	8

Genomic Location (Zv9):

Chromosome 1 (position 7631563)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	7871368
GRCz11	1	8555479

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGGCCAAGTATCAGTCACCGAAACCAGAGTCAAATCAAGATGGAGTAAAA[C/T]AAGTTTCAGAATAAATCTTGACTCAATTGAGCTTGAAGTTATACATGTAA

Long Flanking Sequence:

GAATGGTTTTTTGCATTTTAATTTGATTTCTAAAGTTTTATGTGACACTAGATACTGAAATAATTACAGCATTGGCATCTTATTAAATTACAGTGTTACTGGTTTTATTACCAGTATTAATGGTAATATTATCATTTTTCAACATTTGTTGTGTATTAGTGTATTTTTAGCAAATAAATGCTAAATGATAAAAATAAAATGATTAAAATAAATGATTTTATATGTAATCTTTATATTACATAATATTTTGCAGTGAATGTTTTTTTTTTTTACATGTTATTGACCTGTCACCAGGCTTTTTCTTGTTCTTTTATGGATTAATTATGCTTGGTTTCTCTTCTTTACTGTAGTTAAAATCACAAAACGTATACCTGGACAGGATTGATGGCTTTCGTGGGTTTTACAAGGAATGGCTGGAGTTCATGCCTGGCCAGGAAACCCCGCACCCCTGGGCCAAGTATCAGTCACCGAAACCAGAGTCAAATCAAGATGGAGTAAAA[C/T]AAGTTTCAGAATAAATCTTGACTCAATTGAGCTTGAAGTTATACATGTAAAGGTTGCCTGACCTTAATTGTGAATGTATCTAAGGCTGATTTTGAATATGTCTGATAATAATTGTACATTTGTTTTGTATATATTAAACATTTGTATTTAATATTAGGCTATATTGTTTTATTTGTAAGACAAAAATACAAAAGTGGGGACGCAGTGGCACAGTATGTAGTGCTGTCCCCTCACAGCAAGAAGGTTGCTGGTTCGAGCCTCGGCTGGGTCAGTTGGCATTTCTGTGTGGAGTTTCCATGTTTTCCCTGCATTTGCTTGGGTTTCCTCCGGGTGCTCCGGTTTCCCCCACAGTCCAAAAGACATGCGGTAGATGAATAAACTAAATTGGCCATAGTGTATGAGTGTGTATGGGTGTTTCCAAGTACTTGGTTGCAGCTGGAAGGGCATCCACTGTGTAAAACATATGTTGGATAAGTTGGCGGTTCATTCCGCTGTGGCAA

Associated Phenotype:

Not determined