ZMP

ENSDARG00000067989

Ensembl ID:

ENSDARG00000067989

Human Orthologue:

EPS15L1

Human Description:

epidermal growth factor receptor pathway substrate 15-like 1 [Source:HGNC Symbol;Acc:24634]

Mouse Orthologue:

Eps15l1

Mouse Description:

epidermal growth factor receptor pathway substrate 15-like 1 Gene [Source:MGI Symbol;Acc:MGI:104582]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa33060	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa25940	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa33060

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
ENSDART00000083864	Essential Splice Site	105	675	5	21
ENSDART00000083864	Essential Splice Site	105	675	5	21

Genomic Location (Zv9):

Chromosome 2 (position 55864013)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	55649594
GRCz11	2	55773439

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGTCTGAACAGTTTAAGCCAGAACATCTCCGCACCCATGCCTAAATTTG[T/A]GAGTATTGGGTCTAGGGTTGCAAATTTCCATGTGAACTAATGGGAAAATA

Long Flanking Sequence:

AACAAAAATCAGTCAAAGACGTCCACTTGTACTTATTTCAATATATAAATAGTAATGCTCAATAGAAAGAGCAGCATTAGATGAACTAAAAAGCATTATTGAACACAAATAAAGACTCTTTCTTCGTTGATAGTAAATATGAACTGCTTGTTTACATGGTGTCCTTGCTCAAGTGCAGTCAAACATTTGAAAACTTAGTAATACTGGTTAACAACATGTAGGATTAGGGCTTGGTTTAAAGTCACTACATGCATTTATGCAGAATGTACTGTTATTACAATAGCAATGTTGTTGTGACCTTTTACCAAGCCCACTGTAAAATAGTTTTACAGAATACTATTTCTCGGCACTTGAAGCTTTTTTTAATTACATATACAATTTCTTTTTCTATATAAAGGGCTTCTTCACTGCTCTGAGGCTGGTGGCGTCTGCTCAAGGAGGAAGTGATGTCAGTCTGAACAGTTTAAGCCAGAACATCTCCGCACCCATGCCTAAATTTG[T/A]GAGTATTGGGTCTAGGGTTGCAAATTTCCATGTGAACTAATGGGAAAATATGGGAATTAACAGATATTGTAGGGAATTGTTGGAAAAAAATAAATGAGTGAAAACAAGAGAGAACCCAGTCCAGGAGACTCGAAACAAGCAGAATTCCTTTATTGAGACGTGTTGGTTAATCTGCAGTCATACAGCGTCTTTAAGATGTCCATGTGTCTGCAAGAGCCTACTAGAGGTCCGCAGTCTGCAAGTTCTTTCACAAGTCTCTCACAAGTCTCACACAAGTCTGAATTAAGACAAAGATGTCATGTCTATATTGTGTTCTTAGGATGAGGGAATATGGCTAAACAAAGCATGCAAATTAAGAGTTGGAGTCAGCATGGCATAGGTGTTAAAAAAACGTCTCAGCTACTGACCACACAAGTTAAAGGGCCATGAAACCCCCTCATTTCAGCAGGGTGTTTTCACACCTCTACTTTGGAAAAAGTCAGAAAAGTGGGCGTGTCCAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa25940

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
ENSDART00000083864	Essential Splice Site	127	675	6	21

Genomic Location (Zv9):

Chromosome 2 (position 55867103)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	55646504
GRCz11	2	55770349

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGTCGCTGAATATAACTGGCTCTTCTGCTGATTCCAGCTGGACAGTGAAG[G/A]TATAAACAATCATTCATTCATTCGGTTTCCTTTGGCTTAGTTTCTTATTT

Long Flanking Sequence:

GAGTTGTAGGAAAGCAGTTGATGCATGTCCAAAAGCATTTGCAATTTGTTGGAGGGAATGAGAAACTGCTACTAGGATGTGCACAAATAACTAACGGTTTTGAGAAATGCATTACCTGTTGTGCAAATGTAAATAGTGTTGTGAGAAATGCACCAAAGCCACTGAGAAAAACGGCAATAAAAAATGTCACTTTTTATTAAGTTGCATATCTCAGTATTCATGCTGTTCAGATAACATATTTTTCTCTGAATTTTTTTTAATATCAGATATGCCAAAAAATGTCAGATTTTCTATAATCTCAAATCACTGTCAATATCAACGGTTGCTGATGTTAATCTCTTTTATTTGCATGCTGATTTGATTTGAAAGTCAGTCTGGATAAAAACATCCAGTAAAGCAGTATATGTAAATATGTGTTTCTGCTCGCTTTCCAGAGAGATGCTGGCAGTCCGTCGCTGAATATAACTGGCTCTTCTGCTGATTCCAGCTGGACAGTGAAG[G/A]TATAAACAATCATTCATTCATTCGGTTTCCTTTGGCTTAGTTTCTTATTTATCAGGGGTCGCCACAGCGGAATGAATCGCCAACTATTCCAGCATATGTTCTTCGCAGCGGATGCCTTTCCAGTCACAACCGAGTACTGTTAAACACCCATACACACCCATACACACACACACACACTCATACACTATGTCCTATTTAGTTTATTCAATTCACCTATTTGGACTGTGGAGGAAACCGGAGCACCCGGAGGGTACTCACCCGAACATGGGGAGAACATGCAAACTCTACACAGAAATGCCAGCTGGCCCAGCTGGGGCTCGAACCAGCATCCTTCTTGCTGTGAGACAACAGTGCCAATCACTGAGCCACTGTGTCACTGTTGGTTAAACATCATTTAGGAAATATTTTTAAAAAGCTGTGTTTAGTCTGATAGAACAGCACTGCTAATTCTCCACATGATCAGTATTTCCAACTCTCATAATTCCACACTCATAATCAAT

Associated Phenotype:

Not determined