ZMP

LOC100332538

Ensembl ID:

ENSDARG00000060549

Human Orthologue:

ECEL1

Human Description:

endothelin converting enzyme-like 1 [Source:HGNC Symbol;Acc:3147]

Mouse Orthologue:

Ecel1

Mouse Description:

endothelin converting enzyme-like 1 Gene [Source:MGI Symbol;Acc:MGI:1343461]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa17034	Essential Splice Site	Available for shipment	Available now
sa10946	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa17034

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000085387	Essential Splice Site	191	683	2	17

Genomic Location (Zv9):

Chromosome 15 (position 47348583)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	47585506
GRCz11	15	47031522

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CTCTYACCGTCAGCGTAGACGACAAAAACTCWTCACGCAACGCCATACGR[G/A]TGAGAGAACACACTTCTGACTGTGTTTATTACAATATTGTTATCAGTGTT

Long Flanking Sequence:

TATTCAGTTATGTATTTTATTTGATAGTTTTTTAAATGCACATGTGTAACTGCATATTGTGTACCTTATTTTCTAATGTAATCTTATTTTTGTATTTTAATTTTAAGCATGACAGTTAGTTTTGCTTATGAATTAAAAATAAAAATTTTAGTTGTTATCCACAAATTAAATATTCTGGGGTAAAGATTTGTAATTTCATATGTTTTCTTAAAACATCTTATTTCCTCCAACAGGTGAAAGAATTTTACCGCTCATGCATAAACATCAAAGAAATCGACCGTCTGGGGGCGGGGCCTATGACCGAGGTGATTGACAGCTGCGGTGGGTGGGATCTGTCTGGAGCTCCTCCTGGAGGGGCGGGGTGGGACAGTGGCTCCGCCCCCATCAGGCCAGATTTTAATGAGATGCTGTATAAGACGCAGGGAGTTTACAGCACATCTGTGTTCTTCTCTCTTACCGTCAGCGTAGACGACAAAAACTCTTCACGCAACGCCATACGG[G/A]TGAGAGAACACACTTCTGACTGTGTTTATTACAATATTGTTATCAGTGTTGCGGGTAATGCATTACAAATAATGTAGGTTATGTAATCACAGTACTTTTTTTACAAGAAATGACAAGAAATGAGTTACTTTTTCAAATACATCATGGCAAATACTTTGATAGTCATTTAATCACAGTCAGTGTTTGGACTTCTTGTAATACAATTTCTTGATATAGAAAATAACCAATAGGAGCAATTCTTATCATAATAAAGTAATTTGGCCTTTAAAAAAGGTGTTTGTATGTAACTGTCAAGGCAATGTAAGCTACATTATTGGGTCATTTATTACTATAGGTGTTGTTGTTGTTACCATGGCAACTTTAGAATCACCAAAACAGATCAGTTACTATTGTTGTTACCATGGCAACTATAGAATTGACACAACAGATTAATTTATGGAGTTGTTCTGTTACCAAAGCAACTTTAGAATCACAGTGACAGATCAGTTACTACAATTGTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa10946

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
ENSDART00000085387	Nonsense	306	683	6	17

Genomic Location (Zv9):

Chromosome 15 (position 47361467)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	47598390
GRCz11	15	47044406

KASP Assay ID:

2260-9067.1 (used for ordering genotyping assays)

KASP Sequence:

TGACCGCATCTTCAACGWTAATTTCTCTGAGGAGGAGGAGATTGTGGTTT[T/A]GGCCACTGACTAYATGCARACGGTGTCGGACAKCATCAAAACCACCTCTA

Long Flanking Sequence:

TTACCAAAAAATGTAATTTAAAAGTTGTCAGATTACATTACAATAAATCTGTAATACATATAATCTGGATATAATCCAAAAATCATTACCATAAATGTGTAATAAAAGTAATCTAAATGTAATCCAAAAGTAGTCAGATTACGTTACCATACATATGTCATAAATGCAATCTACTGTAAATGTAATCCAAAAGTAGTTGAATTACATTACAATAAATGTGTAATAAAAGTAATCTAAATGTAATCTAAAAGTAGTCAGATTACATTACAATAAACATGTAATAAAAGTTATCTAAATGTAATCCAAAAGTAGCTCGATCTTTCAGCTGTATAAAATGCAGAGCCGTAAATGAGGCTTAAGTCAATGAACAGGTTTACTGGCATCTGTTTGTCTGAAGAGCGTGTAAACATTGTCTTCTCCCGCTCTTTAGTTCCACTGGAAGCGTCTGCTTGACCGCATCTTCAACGATAATTTCTCTGAGGAGGAGGAGATTGTGGTTT[T/A]GGCCACTGACTACATGCAAACGGTGTCGGACATCATCAAAACCACCTCTAAACGGTAGGAGTCCACTCAGCGTATGACAAAACACTCTTATTGTGATGTAAACTCATTATAATTTGGTAACATTTACAGTAAGCCCGCATGAGAAGAATACTGTTGTAATTTATAGTAAATGTAGTGGTTTTGTAGATCTGTTGTGGTGATTCTACAGTTGCCATTGTAACACAACAACTATTGTGATTGATCTGTTACGGTGATTCTACAGTTGCTATGGTAACACAACAACTGTAGTAATTGTCAGTTGTTATGGTTATTCTACAGTTGTTATGGTAACAACAACTATAGTAACTGATCTGTTGTGGTTATTTTTATAGTTGCTATAGTAACTCACCAACTAAGTAATCGTGATCTGCTGTGGTGATTTTACAGTTGCTATGGTAACACAACAACTATAGTAATTATCTGTTTTGGTTATTCTACAGTTGCTATGGGAACACAACAAC

Associated Phenotype:

Not determined