ZMP

Ensembl ID:

ZFIN ID:

Description:

Pentatricopeptide repeat-containing protein 3, mitochondrial [Source:UniProtKB/Swiss-Prot;Acc:Q32LU7

Human Orthologue:

PTCD3

Human Description:

Pentatricopeptide repeat domain 3 [Source:HGNC Symbol;Acc:24717]

Mouse Orthologue:

Ptcd3

Mouse Description:

pentatricopeptide repeat domain 3 Gene [Source:MGI Symbol;Acc:MGI:1917206]

Allele Name:

sa42381

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
ENSDART00000080138	Nonsense	44	667	2	24

The following transcripts of ENSDARG00000057494 do not overlap with this mutation:

• ENSDART00000144136
• ENSDART00000147565

Genomic Location (Zv9):

Chromosome 14 (position 20080403)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	15845138
GRCz11	14	16150701

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa22457

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:

G > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000080138	Essential Splice Site	282	667	11	24

The following transcripts of ENSDARG00000057494 do not overlap with this mutation:

• ENSDART00000144136
• ENSDART00000147565

Genomic Location (Zv9):

Chromosome 14 (position 20071686)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	15836421
GRCz11	14	16141984

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa14622

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
ENSDART00000080138	Nonsense	544	667	21	24

The following transcripts of ENSDARG00000057494 do not overlap with this mutation:

• ENSDART00000144136
• ENSDART00000147565

Genomic Location (Zv9):

Chromosome 14 (position 20059848)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	15824583
GRCz11	14	16130146

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa17910

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:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000080138	Nonsense	586	667	21	24

The following transcripts of ENSDARG00000057494 do not overlap with this mutation:

• ENSDART00000144136
• ENSDART00000147565

Genomic Location (Zv9):

Chromosome 14 (position 20059723)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	15824458
GRCz11	14	16130021

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype: