Busch Lab

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
sa1132 Nonsense F2 line generated Not yet available
sa17034 Essential Splice Site Available for shipment Available now
sa10946 Nonsense Available for shipment Available now
sa7412 Missense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa1132
Status:
F2 line generated
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
ENSDART00000085387 Nonsense 78 683 1 17
Genomic Location (Zv9):
Chromosome 15 (position 47346441)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 47583364
GRCz11 15 47029380
KASP Assay ID:
554-1043.1 (used for ordering genotyping assays)
KASP Sequence:
GGATACCAGAGGATAAACTGAGCTAYGGGATTATCACTGCTATTGGAGAA[C/T]AAAACCAGGACAAACTGCAGCGCCTCCTACAGGCACCGGTGCAGAGGAGA
Long Flanking Sequence:
TTTTTGCTTACATTATTGAATTATTAAATATTATCATATGTTTACTTGCAGGAGATCAAATATGGCAGTCGCTACAGCAGCAGTACGCTGAGTAATGGCATGAGTCTGCATCTGGGCGGATCATTGGACCGCAGCCGCACCCGAAGTGGGCGGGACAAGTGTGTGGGTGGAGCCGGGCCGGTGAGCGGAGCTACAGCGAGGTGGAGCCGTCGTGAAATCTGCCTTCTGTCCGCACTGGTGTTTGCAGCAGGAATGTGTGTGATTCTGGGATGCATGTTAGCATTAAAGTTCCTGTCGCTCGATCGCAGGATTCTCAGTGTCGCCAGGATTGTGTGAAACGGCGTTCGCTTTTACGCGCCGCTAGATTCGTTCAGGGAAATATCGACCCCAGCGTTCAGCCCTGTCATGACTTCTACAGCTTTGCGTGTGGAGGATGGTTACGCAGACACGGGATACCAGAGGATAAACTGAGCTATGGGATTATCACTGCTATTGGAGAA[C/T]AAAACCAGGACAAACTGCAGCGCCTCCTACAGGCACCGGTGCAGAGGAGAGAGCTCGAGAGTGCAGAGAGAAAGGTGCAAAAACAGATTATTCATGTGCTTTGATATTATTCATGTGCTTTAATATTATTCATGTGCATTACTATTATTATTCGTGTGCATAAATTAGTCATGTCCACAAGTATTATTCATGTGCATTAATATTATTATTCATATCCATTAATATTATTATTCATGTGCATTAATATATTAATCATATGCATTAATATTATTCATGTGCTTTATTATTATTCATGTGCAAAAATATTATTATTTATGTACATTATTATTATTTATGTGCAATTAATANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNATATTCATGTGCAATATTATTATTAATTTGCATAAATATTATTCATGTGCATT
Associated Phenotype:
Not determined

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

Mutation Details

Allele Name:
sa7412
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:
A > T
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085387 Missense 664 683 17 17
Genomic Location (Zv9):
Chromosome 15 (position 47392088)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 47629011
GRCz11 15 47075027
KASP Assay ID:
554-4128.1 (used for ordering genotyping assays)
KASP Sequence:
CTGGTGTATGAAGAGAAGATCTCAGTCCATCTACCTGCAGCTGCTGACRG[A/T]TAAACACGCACCTGAGCATTRCAGGTACTGCATTCATCAATACACACGGC
Long Flanking Sequence:
GTGTGCGCTTCAGTGTGTGTTTGTGTAGAGAGTGTGTGCATCGGTGTGTTTCTGTTGTGTGTGTGTGTATTATGCAGTGTGTTCTATATCTGTGTTGTTCATCAGGCGTATCAGAAGTGGGTGCGTGAGCACGGGCCAGAGCGTCCACTGCCGGGACTCAAACACACACATGAGCAGCTCTTCTTCATCGCCTTTGCTCAGGTCAGCACACACACACTTCAGTCTGTTTACATACAAACATGCAAATTAGATTTACGTGCAAAACTGTAACAACTCCTCAGTTCCTCACTTTGTTTATGAGCTCTCACATGTTTCTGCTACTCAGTTGTACATAGATGCTATTTTGTTTTATTGATGCACATCTAGATGTTTCCATTAAGCATCTCTAAAAATGCACATATATGAAGGCATGTGTGCTCCACATCTGTGTGTGTTCTCTGATTTACAGAACTGGTGTATGAAGAGAAGATCTCAGTCCATCTACCTGCAGCTGCTGACAG[A/T]TAAACACGCACCTGAGCATTACAGGTACTGCATTCATCAATACACACGGCACTATTCCTGACCAATCCAAACGGTTTATTCAGAGACCGACTCATTGATCACGGCACTATAATGAGTGTGTTTATCAAATGTAATCGTTTCAATTAATCTTCACTCACATTTTTAAGTTTATAGATTGTATTATTGACTTTTCCACAGTTCTGATTTGGCATTTCAGTCTTTTGGGAGGGAAAAGTGGGATAAAATCCTAATGATAAAATAAAATCATATTGCTCATACTGATGTTGAATAAAGGCAGAGATACAGTGGATAATGATAATAGTCACTAACATTAATGTACAGAAGTGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGA
Associated Phenotype:
Not determined