ZMP

PELP1

Ensembl ID:

ENSDARG00000079313

Description:

proline, glutamate and leucine rich protein 1 [Source:HGNC Symbol;Acc:30134]

Human Orthologue:

PELP1

Human Description:

proline, glutamate and leucine rich protein 1 [Source:HGNC Symbol;Acc:30134]

Mouse Orthologue:

Pelp1

Mouse Description:

proline, glutamic acid and leucine rich protein 1 Gene [Source:MGI Symbol;Acc:MGI:1922523]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa31571	Essential Splice Site	Available for shipment	Available now
sa20939	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa31571

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
ENSDART00000112908	Essential Splice Site	220	1038	7	22

Genomic Location (Zv9):

Chromosome 7 (position 27137147)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	25740086
GRCz11	7	26011279

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGCATCAGCCAATAGCATACTGGGACAGCTTTATCATGGTGCAGAAACGG[G/T]TATGTAAGTGTTTTGAATGCATGTTTTTGTTTGCGTTTATACATTTCACA

Long Flanking Sequence:

TAGTGCCACCTAGCTGCTATGAAGGGAATGATGGCGTGTATGACCTACTACCCACGAGCTTGCGGATCTCTGCGGGTCAGTACTTCCATACAAATACATAATATGTTTTTCCATAAATAGATATTTAGTATCTGATAAAGCTAAAATTTTTCTCTTGCAGGAAAAGCTTGGAGCATATTTCCTCTCAAAAATGGACTCAGATAATCCAAAAGTACAAGAGGTAAGTTACTTATAGTAGTTTAGTGTGTTACAATGTGAATAAAAGTGTGTTATAGAATAATTGACTGATAAAAACAAATGAATCACGTTTTGGGATCTTGTCTCATTGTTTTGTTTTCGGTAGGTGGCTTGTGAGTGTTATGGCCGATTGCCCTGTCTGGGGGGAGTGTTGGAGCGAGGTGGAGGTGGGCGCAGGGCTGAAGGCTGGACCAATCAGCTCCATTGCCTTCTAGCATCAGCCAATAGCATACTGGGACAGCTTTATCATGGTGCAGAAACGG[G/T]TATGTAAGTGTTTTGAATGCATGTTTTTGTTTGCGTTTATACATTTCACATGCGCTGTTATCCAAAACAAATTGCTACACAAATCATTAGTTCTTGTTTTTCCCTGCAAATCGAACCTACAACCCTCAAATTGCTAGCACATACTTTACTTTTTGAGCTACAGGAAAACTTTTTGTTGCTGTATTCCAAGAATTGTCTTTGTTGTATGTAGTAGAAATTTAATTTCTCTTGTTTGTTTTTCCTGTGTTGCTGTTTCAGAAGGGACAGTTCAGTATGAGGGTCCCGGTGTGGAGCTGCCTTTCCCCCCTCTGGATGATGTAGATCCACTTCTGATCCTTCAGCTCCAACATCGCTACAAGGCTGTTACTCTAGCTATGAAGCACACACTTAGGTAAGTGCTTATGTCGTACGACTATGTTGATGTTATTTGAAATGTTTATTTTCATAAATATTTTGTACTTTGTAATTAGGGTTTATGAGATCTTGTTTTATTTACTTCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa20939

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
ENSDART00000112908	Nonsense	722	1038	16	22

Genomic Location (Zv9):

Chromosome 7 (position 27146433)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	25749372
GRCz11	7	26020565

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCATGCCAGCTGGTATGATGATGGAGATGCAAGATGGAGCAGCAAATACA[C/T]AATCGTTGTCTCAACCAGCAGTTTCAACAGTAGGAGGTCTGCAGACCTCC

Long Flanking Sequence:

AGGTATCTTCATTTTGTGCTGAAGCTCTGATCATATGCAACACTCTTATTCATCCTCGCACACCCTCAATCTCACTCCCTCTCACCCCTCTAACTCTCAAATCAACCCCATCGGCCCCTGTCCTAGCCTCTGGCCAAAACTCCTCACTATCAATTCCTACCCTTCTTGGTGGACCCACAACCGGGCCACCTTTCCCTGCAAGGCATCCGATGGGGTTAGGCCCTGCTAATCTCCTTGGATCTCTGGAGAACCATCTACCATTGGCACCTCAAGTTCTGTCATCTTCAGCAGGCACACCAGGTGACTTGCTGCTCTCCCCCGCCCAACCCGGAGAACTGACAGGACTCGGAGTCCCTGAAGGTCAGCGGCAAGTTTTTGTTCGCTACGACAAAGAAGAGCCAGATGATGTGGAGATCTCTTTGGAAAGTGATTCAGATGATAGCGTGGTCATCATGCCAGCTGGTATGATGATGGAGATGCAAGATGGAGCAGCAAATACA[C/T]AATCGTTGTCTCAACCAGCAGTTTCAACAGTAGGAGGTCTGCAGACCTCCACCCCAGTGGTGGGTGAGGTTGGATCAGCTGACACATCTTCAGCTAATGAGCTGCCTGGCTCCATTCCCCACCAGATTCTGCCCGCTAATAACATTAACTCCTTCCCTGGACCAAATCAAACAGCTCAGCATGTGGCTATAGTGCCACCTCTGAACTCTGCCACAGCCTCACTCTCAGCCACAGTCGTCGGTCTTGCAGATTCACTAACAGGTGGACCGCAGCTTCAGCAGATGTTGATGCAAACTTCTCCAGGTGGGCAGCCCCCAACTCTGGGCCTGTCTTTGCAGATGCAGCTTCAAAACCAGATTGCACAGACCAGCCGTCAGCTTCAACAGCAGCCTCCAGGAAATGACGTGGACCAGAATGTTATCAACATCAACAGTTCGGATGACGAAGAGGAGGATGAAGAGGAGCTGGAGGAGGAAGATGAATTGGGGGAGGAAGAGGAA

Associated Phenotype:

Not determined