Busch Lab

ZMP

si:ch211-117c19.2

Ensembl ID:
ENSDARG00000059677
ZFIN ID:
ZDB-GENE-060526-16
Description:
MAM domain-containing protein 2 [Source:RefSeq peptide;Acc:NP_001123869]
Human Orthologue:
MAMDC2
Human Description:
MAM domain containing 2 [Source:HGNC Symbol;Acc:23673]
Mouse Orthologue:
Mamdc2
Mouse Description:
MAM domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918988]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa12046 Essential Splice Site Available for shipment Available now
sa13995 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12046
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083203 Essential Splice Site 11 680 2 14
Genomic Location (Zv9):
Chromosome 5 (position 56445868)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 51922138
GRCz11 5 52568731
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTTAAAGCTTTATAGTTTGGCTTTATTGATGTGAKGTTCTGTSTCTTC[A/G]GCTGTGGCTCTTGTAGCGCGGTCTCAGACGCAGCTTTTGCGGGGCTCCTG
Long Flanking Sequence:
TGAGCAAGAAGTATGTCATATCTGTCAGACGTTTACATAGCGGTAAACTCCTTACCTAAATAAGATCCATCACCGCTGCCTGTTCTGAAATAGAAACCTCAAGAACCACTCCCTCCTCCTACTGTCTGCCAGACTCAGCATGGAGAGTGAGTTCAGCGGTGTGTGTTCAGTGCGCTGTGCGTCTGCTGCCGTACGCAATCTGCGTTAGCGGAGCGCCGCTCTTCCACTCCAGCATCCCTGCAACTTTTGCCATGAGTTTTCTTCACCCCTTAACGTTTCTGGGTAGGTCATCACTTGATGTAATTGTCTGATTGCATTAATGAAGTTGTTTGCTTGCATGTTTCTGAGCATTTGTGTAAGTTTAATTCCTTCTTCTTCCAAACTGTGCAATTTTTTCGTTGCTGCACATTTGCATCTGCTAACATATTCACTATGAATGCAATGTATGTCTATTTAAAGCTTTATAGTTTGGCTTTATTGATGTGAGGTTCTGTGTCTTC[A/G]GCTGTGGCTCTTGTAGCGCGGTCTCAGACGCAGCTTTTGCGGGGCTCCTGCACATTCGAGGCGGACAGCTGCGGCTACACGTCTGATCCTGCTTATGCTGCCTGGACCATCAACGATGAAGGTATGAGAAACTCTCTTATTATTTGGATCCAGACACTTTTATTAGTAGGCTACTAGTTTCGTTGACATTTATGCCACAAAACTGTCAAACTGAACAAATGTGCTTGAATGGTTCCAAAATAATTCACTGCAGGCATCATACGTGCGTCAGACAGTAGGTGGCGCTATCAACTGTGTAGCCTACATTTGCGATTTAGTTAAAGTTGTATTATGGGCTAGAATCCGATTCCCTCTTCGGAATACTTGAAATTTAACCCCCAAAATATAGGCTACTTATGCTCATGTCAAAGCAGTTTCGTCAATCGAATTGTTTAGTCAGTTGACACGGAGGCGTGGTAGGTAGTGCTGTTGTCTCACAGCAAGAAGGTCACTTTTTCAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13995
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083203 Nonsense 554 680 12 14
Genomic Location (Zv9):
Chromosome 5 (position 56390101)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 51866371
GRCz11 5 52512964
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AKYACACTAAGTTTCTCCTAYTCTGACTTCAAGGTTACTTCATGTACATT[G/T]AGGCCTCCCAYATGTTACCTAAGCAGTCAGCCCAGCTGATGTCCACTGAG
Long Flanking Sequence:
GTCATTTCGTGGGGGAAGGGAAAGCTAGGATATTTGATAAAATATTATGAGGCTAAATAATATTTAACAAAAATATGAAGTGTACATAAACATCATTTATAACAATTTCTAAAAACTCATATTAAAATAGAAGATTAGCACATTTGAATTTCAGAGTGACTTTAAACTTTCAGACTTTTCCTAATTGGTGAACACTACTATTTCAAAACAGGTCACTTTTTTCTGTTCTCTTTTTAGGACCCTTGAATCCACCTCCTGGACACTGTAACTTTGAAACTGGTGACTGTGGCTACACCCAGAAAAAGAAAGCTAAAAAAGGACATTGGCTAAGGATTCGAGGACAGACGCCCACATCTTACACCGGACCCAAGGGGGACCACACCTTAGGGGTAGGTGAGTCAGATTTATACTTCAGCTTAGAATGCTTTTATCTCTGATTTCTTGAGACAGAGCACACTAAGTTTCTCCTACTCTGACTTCAAGGTTACTTCATGTACATT[G/T]AGGCCTCCCACATGTTACCTAAGCAGTCAGCCCAGCTGATGTCCACTGAGCTGAGGGGCTCATCCATCCCGCAGTGTCTGATCTTCTTTTACCACATGTATGGCTCGGGCACAGGGACCCTGAGCATCCTGCTGCGTAAGGGGGACAAGGAAAGACTGCTTTGGTCTAGGCAAGGAGAACAGAGCGTGTCCTGGATGAAGGCCATGGTGGATTATGAGTGTTACACAAGGCACTGGGTTAGTGACATGTTCTTGCTGCTCTTTGAAAAGTATCTTTTGCAACACTTATATTACAGCAACCATTTGATCACTGAAACCATTGCATTTCTGATGTCCCAGGAAAATGACTTTATTATGTTTTTTGTTTGTAAAATGTACTTTAAGGTTTAATGTCTGGTTTATTGTTTGCAGGTTATATTTGAAGCCACCAGAGGATCGTCAATAAGGAGTGACATTGCGATTGATGATGTTGTGTTTAAAAAGGGACCTTGCAAAGGCAAG
Associated Phenotype:
Not determined