ZMP

LOC100332270

Ensembl ID:

ENSDARG00000074403

Human Orthologue:

PEX5L

Human Description:

peroxisomal biogenesis factor 5-like [Source:HGNC Symbol;Acc:30024]

Mouse Orthologue:

Pex5l

Mouse Description:

peroxisomal biogenesis factor 5-like Gene [Source:MGI Symbol;Acc:MGI:1916672]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa30811	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa39752	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa30811

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
ENSDART00000108990	Essential Splice Site	258	573	7	13

Genomic Location (Zv9):

Chromosome 2 (position 4495441)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	5352883
GRCz11	2	5264867

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATGCTGACAGCGAAGGCCTGGTGCCACTCAACTTTTCTCCTACTGAGAAG[G/A]TATTTCCAACCAATCAGAACGCTTTGTTTTATGGTGACTGCCCCCCCTAG

Long Flanking Sequence:

GCATGTGTTAAGGCATGCGGACATGGTCAAGACGATCTGCAGCAATTCAAACCAAGCATCACCCTCCCCCCCCCACCCCCATGGATCTTGTTTTGACGTTCTTCAGGGGGTTAATTACAGTGTTCAGATCCCCCAAACCCCCTGTAATTCACACAAGAAATGATGTCTATTATTTTAAAAACGTCTTTATAAAACTGCGGCATGATTGTGAAGCTGAAAATCACGGAGCAGTTCAAATGCTATGCCTCCAGCTATGTTGTTAAAGCAGAATTTTATAGATGCCAAAAGCATCTCTGTCTGTAACGGCCTGCAGGGTGCCAGTTTGTTTGATATATCAAATGCTAGATGTGTCCTAAAGGGCCGTGTGATGTCTTCCGCAGTCAGACACGGAGTTCTGGGATAAAATGCAAGCCGAGTGGGAGGAACTGGCACGGAGGAACTGGCTGGAGGATGCTGACAGCGAAGGCCTGGTGCCACTCAACTTTTCTCCTACTGAGAAG[G/A]TATTTCCAACCAATCAGAACGCTTTGTTTTATGGTGACTGCCCCCCCTAGAGGACATCAGAAAACTTACAAGGGGGCTAGAAATGATGGAAAAGTGTTTCGACTATTAATATATTAGTTAAATGAATAAATGTCGAACTTTTATCAGCATCAGCTGTTCTGTAGATGATCAAAAATATATATATATTGCTTAAGGGAGCTAATAATATTCACCTTAAAGTAGTTTTTAAACAGTTAAAACATGTTTTTATTCTAGCCAGATTAAAACAAATAAGACTTTCTCCAGAAGAAAAAATATTATAGGAAATACTGTGAAAAATTCCTTGCTCTGTCAAACATCATTTGGGAAATATTTAAAAAAGAAAACCATCATAATAATTTTGACTTCGACTGTATGCACACCAGACTGGAACTACTCTAAAAAGTCTCCAGACCACACACAATGCTTGGAACAGGGTTCATTTTCAATGATGATTGAACGGATTCAGCGCTAGATTATTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa39752

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
ENSDART00000108990	Essential Splice Site	511	573	12	13

Genomic Location (Zv9):

Chromosome 2 (position 4507557)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	5364999
GRCz11	2	5276983

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCTCCAGATACAACCTCGGCATCAGCTGCATCAACCTGGGGGCACATCGG[T/A]AATAAACTTAATTCCTAAGCAAGTCTCTAATGTGAATTTAAAGGTCCCCT

Long Flanking Sequence:

ATTCTCTCTTGAATTGATTCTGAGCTTTTTAACAGTACTTTTAACTCTAGGGTAGTTGACAGCAGATGGTGCTGTAGAGTAGTTTTCAACAGCAGATGGCGCTCTAGGTTAGTTTGTAATAGCAGATGTCACTGTTGGTAATGATACCCAGTGATGCAGTGCTGCTCTATAGCACTGTTGCTACCTGCTTTCAGTGTTCTGTAGCTTGCTTTGTAATTAACACAACATCATACTAGCAAATCTAGAATCATTATTATTTACATACTTGCACTATTCACCTCGTTTATATCAGAGTTCTGCGATAGGGCTGTCCTAGATTACTCTGTCATGTGTTTATGTAGGACTATCTGCTGTGGAATCGGCTCGGGGCCACGCTGGCAAATGGGGACCGCAGTGAAGAAGCGGTGGAGGCCTATACCAGAGCCCTGGAGCTCCAGCCAGGCTTCATTCGCTCCAGATACAACCTCGGCATCAGCTGCATCAACCTGGGGGCACATCGG[T/A]AATAAACTTAATTCCTAAGCAAGTCTCTAATGTGAATTTAAAGGTCCCCTGAAGTGCCATAAAGCCCGCAGTTTGTTTAGTGTGTCACGTAATTTCCACTGAAACAGGAAGACAGGGTAGGACTTGGGTAATTGAGTTGCTCCTCCCTCTCATTTTTTAAAATGAACCTTTATATGCTGTTGGGGATGTTTTCATCCACTCTGATGTGATTTCGAGTCTTAATTTGGCCATAACTTTCTCTGTGTTTCAGCAAATGAAATAATTTTGGTGCCAAATCTTACTTTGACAGATTTTTGGGAAAATGCTTTGAAATTTGTCAAAAATTATTCAATTTCTGTACCTGAATGCACTCAAAAAAAATTATGTTTTGTTTGTTTAACGAGGTGGTCACTACGATATCATATGTTAAATTTTAGTTGATGTGTAATGTTGCTGTGTGAACATAAACAACATCTCTGAATGTAAGATGCTCAAAGTTCAATGCAAAGAGAGACATCGGC

Associated Phenotype:

Not determined