Busch Lab

ZMP

zgc:66100

Ensembl ID:
ENSDARG00000012892
ZFIN IDs:
ZDB-GENE-040426-1533, ZDB-GENE-040426-1533
Description:
AMMECR1 protein [Source:RefSeq peptide;Acc:NP_956875]
Human Orthologue:
AMMECR1
Human Description:
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Mouse Orthologue:
Ammecr1
Mouse Description:
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa24038 Nonsense Available for shipment Available now
sa24037 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa24038
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
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013814 Nonsense 11 322 1 6
ENSDART00000128776 Nonsense 60 371 2 7
Genomic Location (Zv9):
Chromosome 21 (position 43267920)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 44707578
GRCz11 21 44731824
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCCCGCGCTGACGGTGATGGGTCGGAAGCGGTGTGTTGGTGCAGATTG[T/A]TCGAAGATGGCGGCCGGGTGCTGCGGGGTGAAGAAGCAAAAGTTGTCGGG
Long Flanking Sequence:
TCGCGGTGAGGAGGTCGTGTGGCCGGCGGGAATGGTGCTGTCGCCGAGCCGCAGCGACTGACGGCACCGGGACTGCGCTCGGCTACCCTGTATGGGTCACCGGAGATCGCTCATCTACAGGCCACGTTTATTGTTTATTCTCCCAGCTGGACTGTCAATTGGTGTTTGGATGGACCTGTGCGTGCTGTCACACACATAATTGCTTATTTTGCTGCCTAAGAACATTACGTAAGGCTGCAGCGTACGCTACGTATTTTATTAGGGGGGAAAGGCTCAGGTGACATTGCAGACTTTCGTGGAGACACACACACACATATATATTTAAATATATATATATAAACGTAAGCTCCTCTTATTACGTCTGTCAAAAAGGAAGAGAAGGTGGAGCATTGTCCGTCGTACGTGCTGACGCAGTGGGATTTCTACGTGTGGTCTGCGTTTCGACCCGCCCTTCCCGCGCTGACGGTGATGGGTCGGAAGCGGTGTGTTGGTGCAGATTG[T/A]TCGAAGATGGCGGCCGGGTGCTGCGGGGTGAAGAAGCAAAAGTTGTCGGGATCCCCTGGCGCGGGGGGTCCCGGCGGGGCGGGAAGCGGGGTAGCCGGGACCGGACATTGTGGATCGGAACTGGGGATTGGGTCGTCGTCGACTGTCGTGGCCGGGAGCGTGAATCGAGTGAACGGCCTGGGGGGTCCGGGGGGTAGCGGTAGCAGCGGCGGTAACAACACCAACGCGCTGTCCGCGACTCCCGGAGGTTACAACTCCACCGGCCTCTCCCCGACTCTCAGCCCCGGCTCTGGAGCCAGGAAAATGGTGGTTTCGGCGGAGATGTGTTGCTTTTGCTTCGACGTGCTTTATTGCCATCTATACGGATACCAGCCTCCTCGAACACCCAGGTTTACAAACGACCCCTAGTAAGTAGTAGCAAGATGGCTATGTTGACCTGGTTTACCTCAACAACAGATGCTGTGTTTCCTGTTTTCTTGACTTTCGTCGAGTCTGTCAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24037
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013814 Essential Splice Site 147 322 1 6
ENSDART00000128776 Essential Splice Site 196 371 2 7
Genomic Location (Zv9):
Chromosome 21 (position 43267512)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 44707170
GRCz11 21 44731416
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTATACGGATACCAGCCTCCTCGAACACCCAGGTTTACAAACGACCCCTA[G/A]TAAGTAGTAGCAAGATGGCTATGTTGACCTGGTTTACCTCAACAACAGAT
Long Flanking Sequence:
ACGCAGTGGGATTTCTACGTGTGGTCTGCGTTTCGACCCGCCCTTCCCGCGCTGACGGTGATGGGTCGGAAGCGGTGTGTTGGTGCAGATTGTTCGAAGATGGCGGCCGGGTGCTGCGGGGTGAAGAAGCAAAAGTTGTCGGGATCCCCTGGCGCGGGGGGTCCCGGCGGGGCGGGAAGCGGGGTAGCCGGGACCGGACATTGTGGATCGGAACTGGGGATTGGGTCGTCGTCGACTGTCGTGGCCGGGAGCGTGAATCGAGTGAACGGCCTGGGGGGTCCGGGGGGTAGCGGTAGCAGCGGCGGTAACAACACCAACGCGCTGTCCGCGACTCCCGGAGGTTACAACTCCACCGGCCTCTCCCCGACTCTCAGCCCCGGCTCTGGAGCCAGGAAAATGGTGGTTTCGGCGGAGATGTGTTGCTTTTGCTTCGACGTGCTTTATTGCCATCTATACGGATACCAGCCTCCTCGAACACCCAGGTTTACAAACGACCCCTA[G/A]TAAGTAGTAGCAAGATGGCTATGTTGACCTGGTTTACCTCAACAACAGATGCTGTGTTTCCTGTTTTCTTGACTTTCGTCGAGTCTGTCAAGTTTTCTAGTCTGGGCGTTTTAAAGGACTTTGCTGGATGTTCACAGCGAATGCTGCAATAATACTTTCCTCGCTAATCTAGCTAGCGATAATCCAAGCCCGTCCGATTACTAAACCAGAACAGCATAACCGAACACAGGAAAGGAGGAGTATTAGAATTAATCGTCAAACGATAAACGCTAGCTACTAATTAATTTAGTTTATTGGAAAATCTATGTTTAATTATATAGGGTAAATATAGTGTTTACAAGTTTAAACGTGTATTATTTCGAAGATTACAAGTGAAGTCGGCTGATGTTCGCCGTGTCCGTTAATTAGTAATAGCTGATGTGTTTTCCCCTGAAAGAGATTAAATGGGTGTTAGCCTTTTCTGCTCTATCCGAGCTGCCCTGCAAGCTAACGTGCTAACC
Associated Phenotype:
Not determined