Busch Lab

ZMP

ENSDARG00000076950

Ensembl ID:
ENSDARG00000076950
Human Orthologues:
ECE1, ECE2, ECEL1, KEL, MME, MMEL1, PHEX
Human Descriptions:
Kell blood group, metallo-endopeptidase [Source:HGNC Symbol;Acc:6308]
endothelin converting enzyme 1 [Source:HGNC Symbol;Acc:3146]
endothelin converting enzyme 2 [Source:HGNC Symbol;Acc:13275]
endothelin converting enzyme-like 1 [Source:HGNC Symbol;Acc:3147]
membrane metallo-endopeptidase [Source:HGNC Symbol;Acc:7154]
membrane metallo-endopeptidase-like 1 [Source:HGNC Symbol;Acc:14668]
phosphate regulating endopeptidase homolog, X-linked [Source:HGNC Symbol;Acc:8918]
Mouse Orthologues:
Ece1, Ece2, Ecel1, Kel, Mme, Mmel1, Phex
Mouse Descriptions:
Kell blood group Gene [Source:MGI Symbol;Acc:MGI:1346053]
endothelin converting enzyme 1 Gene [Source:MGI Symbol;Acc:MGI:1101357]
endothelin converting enzyme 2 Gene [Source:MGI Symbol;Acc:MGI:1101356]
endothelin converting enzyme-like 1 Gene [Source:MGI Symbol;Acc:MGI:1343461]
membrane metallo endopeptidase Gene [Source:MGI Symbol;Acc:MGI:97004]
membrane metallo-endopeptidase-like 1 Gene [Source:MGI Symbol;Acc:MGI:1351603]
phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, v

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa9150 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa4651 Essential Splice Site F2 line generated Not yet available
sa44847 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39091 Nonsense Mutation detected in F1 DNA Not yet available
sa36091 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9150
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
ENSDART00000111400 Essential Splice Site 389 793 7 18
Genomic Location (Zv9):
Chromosome 16 (position 19337347)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17367670
GRCz11 16 17275647
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GYCTCAGTCAAAAATTACTGTACCGCAGAACTACCATCCAAGAGCTTCAG[G/A]TCTGTGCTTAATCTGATTTATTATTTGTCAGATATAAATAGGTCAGTGAC
Long Flanking Sequence:
TATATTTTACTTTCACACATTTCAGAAAATGTTTTATTTATATATTCATGTATACAAATCAACAATATTCTGATTCATTTTTAATTTATCTGTGATTGTCTTACCCTCTAGTTGATTTGAAAATGTCAATGTTCATTCCATAGATTGATGAGCCTCATTTCCAATTTCCTATTGAATGGAACAGCAAGACACAAAAAGCCAAAGCAAATACTCGGGTAGGTAATTTCTCTTCACCAGATTTCACACATAACCAAGGAGGCAAGTTTTTCATATCATAATATTCATTTGTTGTCTCTGTTCCTCTTTCTCAGTATCTGCGTCCATTCTATTCAGCCTGTGGTCAGTATTTGGTTCTCTTAGGAGTTCCCTCTGATCGAACCACTCAACACTGCGGTCTCTTTGTATCTCTTTCCACGACTCTGGCTGTGGCCACATTCCCTCTGCCCTACCGTCTCAGTCAAAAATTACTGTACCGCAGAACTACCATCCAAGAGCTTCAG[G/A]TCTGTGCTTAATCTGATTTATTATTTGTCAGATATAAATAGGTCAGTGACAAATAAGAGTGTCCACTATAAGGAAAAGTGAGAATCTTTTAACGTAGTTTATTTACTATATGCAATTGCAGTTTCATTCCTTCATTCATTTTCCTTCAGCTTAGTTCCTTATTTATCAGGCATTGCCACAGTGCATAGAACTGCCAGTACCAATTTTATTTGTATTTTTTTTTTCAGTTTGCAATTTACAAATACTGCTATAATATAATGCTTTTATATATGGTTTTAGAAAAAAAACTTTATTCCTTCATTTTAATGACTTGCAATGCATCTTAATATTAAAAATAAAATTATTAAATATTAACATTTATATTATGAAAAATGTAAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCGTAGGTTTTCAAATGCTGAGTTCAGACTGCAGGATTTTCAAAGTAGTCGTGTCACAGATGTTTTCTCACTGCATGTCTATCTGGGCTAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4651
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111400 Essential Splice Site 482 793 9 18
Genomic Location (Zv9):
Chromosome 16 (position 19333128)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17363451
GRCz11 16 17271428
KASP Assay ID:
554-3529.1 (used for ordering genotyping assays)
KASP Sequence:
TCTTCCAAATAATGAGAAACTATTCCATTGCAACAGGAGACACACAGGAG[G/A]TGGGTGGACAGTGATTATTTCTATTAATAAAAAGCATTTAAAATGAAGCA
Long Flanking Sequence:
TGACATATGAATGAACAGTAGTTTTAAAATATTAGTGAAAACAGTAAAAGATGTGAAAAAATATATGATGGTAAATAATAAATATATAATAACTGAAATATATGTTTTCTTTGTCTCTCACAGACTCTGGCTCCAGCAGTTGATTGGCTTGCTTGCCTACAAGCCACATTTCAGCCACTTCTTATCAGCAAATCAGATATTGTTTTAGTCCACAATCTCCCATACATAATCCACATGTCCAAGACAATCCACCTATGGCAAGTTCAGCATGAGCTGATGGGCACGTAGGTCACTTTTTGTTACATTTTCTTTAGAATAAATGTAACGTCTTGATAAATGCCAGAAATCTTATTTTTTTATACCCCTGTCTGTATATTTACAGTGGTCCTCTCAACACATACATGATCTTTAGTCTTCTGCAGACACTCATACCTGCACTGGATTCAAGATTCTTCCAAATAATGAGAAACTATTCCATTGCAACAGGAGACACACAGGAG[G/A]TGGGTGGACAGTGATTATTTCTATTAATAAAAAGCATTTAAAATGAAGCAATGATTATTATATACATTTTTTTTCATGAAATTTTAGATGCCACACTGGTGGCGATGTGTTCAGCAGACAGAGCGAGGGTTTGACACCTTACTTAGTCATGCTATTAGAGAAAAACATGCACAAAAAGAGGTATCAGCTGAATATTTGAGGAAATAAAATGTTGATTATGAATGAACAATTTAATAGCAATGATTCCTTTTGACACCATATGCCTTTTTTCTCTCTATGGCAGGCTGAAGAGCTGATTCAAGATGTTTATTCATCCCTCAAGAAGAAACTAACAGATTTGAGCTGGAGGGATGAAAAAGAATCAGACTTTATTTTGAACAAGGTATATTGTCTATGATATACCAAACCACATGCAAAAAAAGGAAGAAAAACAAATCTATATTTTGTTTATACTTGCTTTTTTCAGATAAATTCACTTAATCCAAGAATCTCCACCAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44847
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111400 Essential Splice Site 547 793 12 18
Genomic Location (Zv9):
Chromosome 16 (position 19332663)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17362986
GRCz11 16 17270963
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAAAAGGAAGAAAAACAAATCTATATTTTGTTTATACTTGCTTTTTTC[A/T]GATAAATTCACTTAATCCAAGAATCTCCACCAACACAAACAACCTCAGTT
Long Flanking Sequence:
GAAACTATTCCATTGCAACAGGAGACACACAGGAGGTGGGTGGACAGTGATTATTTCTATTAATAAAAAGCATTTAAAATGAAGCAATGATTATTATATACATTTTTTTTCATGAAATTTTAGATGCCACACTGGTGGCGATGTGTTCAGCAGACAGAGCGAGGGTTTGACACCTTACTTAGTCATGCTATTAGAGAAAAACATGCACAAAAAGAGGTATCAGCTGAATATTTGAGGAAATAAAATGTTGATTATGAATGAACAATTTAATAGCAATGATTCCTTTTGACACCATATGCCTTTTTTCTCTCTATGGCAGGCTGAAGAGCTGATTCAAGATGTTTATTCATCCCTCAAGAAGAAACTAACAGATTTGAGCTGGAGGGATGAAAAAGAATCAGACTTTATTTTGAACAAGGTATATTGTCTATGATATACCAAACCACATGCAAAAAAAGGAAGAAAAACAAATCTATATTTTGTTTATACTTGCTTTTTTC[A/T]GATAAATTCACTTAATCCAAGAATCTCCACCAACACAAACAACCTCAGTTATACAGAACTCAACCATCTCTATGAAAAGGTAAACTCAACTGAATGAATGTGTAAATGTATAAATGAGAAAGTGGATGGATGGATGGATGGATGGATGGATGGGTGGATGGATTGATAGGTGGATGGATGGACACATGGATAGTAAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAATTGAGTGAGTTATGAGTGAGTGAGTTATGAGTGATTGAATGAACAATTGAGTGAATCAATAAATAAATGAATGCTTTTGAGTGAGAGAATGAATGAATGCATGTTAATGTAAATAAATGAGTGACTGAATAAATGAATGAGTATGTATGTATGAATGAATTAATGAATATGAGTGAATGAAAGTGAATGAATGAGTGTGAGTGAGTGAGTGAGTGAGTGAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39091
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111400 Nonsense 608 793 14 18
Genomic Location (Zv9):
Chromosome 16 (position 19326514)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17356837
GRCz11 16 17264814
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACATTTTAAATTTCTGTGTGTATGTGTGTGTGCATGTGTGTTTTAGTT[T/A]GTCTATGACTCCATTCATCTCTGGTAATGACATCATCGTCCCTGTTGGAA
Long Flanking Sequence:
TGACCAAGCCGAGGCACAAACCAGCAACCTTCTTGTTGTGAGGCCACAATACTCACTGCGCCACCGCGTCGCCCCTCTTCATTTCGTCTTTTATTTTTTTCAAATTGTTTGTTTATGGTGGTGGTGGTAGTGGGTAAAACTGTTCTTTATATAATAATATGAGCTAAAATTGGTAATTTATTAATAATTAATGGTTTAATGTTTAAAAATGTAATAATTAATAAACCCGTTGCCCCAGAGAAGTCTGGCAAATGACATATATATTCCTGTATGGCCATATATAGGATCTCCAAATGTGTTGAATGGATATAGATGGATAATGTAGTTTTTTAATGTAGTTTTAGTTTAGAAGCATTTTTGAAAAATGAATGGACACTCACTGAAATCAATCAAAATCAACATGCATTTTGAAAATTTATTTTCATATACATTTTTTCCATTTGTTTGGTCAAACATTTTAAATTTCTGTGTGTATGTGTGTGTGCATGTGTGTTTTAGTT[T/A]GTCTATGACTCCATTCATCTCTGGTAATGACATCATCGTCCCTGTTGGAATGTTTGTGTCACCATTCTTCCATTCCTCATATCCCAGGTATCTTATGAAAACATAAACAAGAATATCAAATTAATGATAGTATTATAATGTATCCTAATTCACTTTGCACCACTGTTTGACAATGATGAACCAAATCAATGATGAAATCTGAATATTTAGAATGTTTTGAAACCACTCTTCTGATTTGTATATGCTGAAGATCTAAGATGCTTAATGTGTAAAATTAATGTTAATATTATAATATTTCTAGAGCCCTCAATTATGGGACACTGGGATCACTAATGGCTAAAGATCTTCTCCACCTTCTGCTCCCTGATAGTAAGCTAGTTTTGATTTTAATATGAATTTGAATGTGTGATTTGTGCAAACATGAGTCCTCATATGTGTCTCATCACTAGTCTACACAAAGGCAAAGAATCCAGAGACTGAGAGTCTGTGTGTGTGGTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36091
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111400 Nonsense 678 793 16 18
Genomic Location (Zv9):
Chromosome 16 (position 19326009)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17356332
GRCz11 16 17264309
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAAAGGCAAAGAATCCAGAGACTGAGAGTCTGTGTGTGTGGTCTCATTA[T/A]CTGAGTGTGACTAAGGGTCCAGGATGGGGTGACGCATTCTATCTTCCATC
Long Flanking Sequence:
ATGACTCCATTCATCTCTGGTAATGACATCATCGTCCCTGTTGGAATGTTTGTGTCACCATTCTTCCATTCCTCATATCCCAGGTATCTTATGAAAACATAAACAAGAATATCAAATTAATGATAGTATTATAATGTATCCTAATTCACTTTGCACCACTGTTTGACAATGATGAACCAAATCAATGATGAAATCTGAATATTTAGAATGTTTTGAAACCACTCTTCTGATTTGTATATGCTGAAGATCTAAGATGCTTAATGTGTAAAATTAATGTTAATATTATAATATTTCTAGAGCCCTCAATTATGGGACACTGGGATCACTAATGGCTAAAGATCTTCTCCACCTTCTGCTCCCTGATAGTAAGCTAGTTTTGATTTTAATATGAATTTGAATGTGTGATTTGTGCAAACATGAGTCCTCATATGTGTCTCATCACTAGTCTACACAAAGGCAAAGAATCCAGAGACTGAGAGTCTGTGTGTGTGGTCTCATTA[T/A]CTGAGTGTGACTAAGGGTCCAGGATGGGGTGACGCATTCTATCTTCCATCATCTAAACAGCAGGAGGTTTGGGTGCAGTACTCAGCTCTACAGGTGGCACTCGATGTAAGTTCACTTTTTCTAGTCTAATTAAATGTTTGTATTTGTTTTTTTTTTTTACATTTTTCTCTAAATCCAATGTTTATTATTTATTTTCATATAATCACACTTAATATATTTGTTTAATAATGCTTAATATCATTTGTATTATTTTATTAAGATGTCATATTTATAATTTATTTTATAAACAGCTGGTTCATTCCGCTGTAAATCAGGGACTAAGTTGAAGGAAAATGAATGAGTAAAAAATTTTATTACAAACTTAAATTATTATTATTATTATTATTATTATTATAATTATTATTATTATGTTATATTTATTATTTATTTTTATGCAACTATTTTAGTATTGTAAATAAATGTTTTTATTTATTCAGTCATATTAGTTTGGTTTTACTTGA
Associated Phenotype:
Not determined