Busch Lab

ZMP

si:dkeyp-2c8.2

Ensembl ID:
ENSDARG00000035273
ZFIN ID:
ZDB-GENE-081031-100
Description:
Novel protein similar to vertebrate transmembrane and tetratricopeptide repeat containing 2 (TMTC2)
Human Orthologue:
TMTC2
Human Description:
transmembrane and tetratricopeptide repeat containing 2 [Source:HGNC Symbol;Acc:25440]
Mouse Orthologue:
Tmtc2
Mouse Description:
transmembrane and tetratricopeptide repeat containing 2 Gene [Source:MGI Symbol;Acc:MGI:1914057]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa2958 Essential Splice Site F2 line generated Not yet available
sa36585 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa2958
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
ENSDART00000051105 Essential Splice Site 495 837 3 12
ENSDART00000133762 Essential Splice Site 252 594 1 10
Genomic Location (Zv9):
Chromosome 18 (position 11307505)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 11890435
GRCz11 18 11859153
KASP Assay ID:
554-2748.1 (used for ordering genotyping assays)
KASP Sequence:
GAATGAGGAGATGCTATAYAAGTCAGGGATATCTGTGAACCCTGCCAAAG[G/A]TAATTATGAGATTGCAATACACAATACGTCTGAAGATACCAATCTTTGCT
Long Flanking Sequence:
ACTTCACCTTTACCCAACAAAAAGCAAAGAAACCAATGGTAAAGCCCATCATGTAGCAAATGGAAAGTCCTCAAATGGACACAGTTGTAGCACTGACTATGAAAACTCAACTTTCTACTCAAACTCAGTGCAGATGAATGGAACAAATGGTACTGTAAAGCACTATTCATCATCTTTACCCACTACTGAAAGTTTGGTGGTCTTTTCATTGGGTTTATTAGCCATTCCTTTCATCCCAGCCACCAATCTGTTCTTCTATGTTGGTTTTGTGGTGGCCGAGCGAGTGCTGTACATTCCTAGTATGGGCTACTGTCTGCTGGTGGCTTTAGGAATGAGGTGTTTATATGTCCGACTAAGGAGAAAGTCCTCTAGAACGTTGGTGTTGGGCTGCTCTGCTGCGCTGGTTCTTCTCTTTGGAATTAAGACGGTGTTGAGGAACCGAGACTGGCAGAATGAGGAGATGCTATACAAGTCAGGGATATCTGTGAACCCTGCCAAAG[G/A]TAATTATGAGATTGCAATACACAATACGTCTGAAGATACCAATCTTTGCTTTAGCAGTCCAGATTGTTCTCCGACCAGGAGTTGTTCTAGTGTCATTAGTGTATGTTTATGGTTTGATGGATTGATATTTATTTATTTATTTATTCATTAATTCATCCAAAATATATGTAAATGTATTGCACTGCTACAAGTGTAATATTGCTTTTATATAACAGTTCAATGACGTAATTGTGTTTATAAAAAAAGAAAATCAAACACGGAGAGTCTCAAAAGCTCCTTGGTAAGAGGAACTACTTTCTTCCGCCATTCATACACATCTGCAGCTGACGCCAGAGCAGCAGTATTGTTACTAAGTTACAATGTCACTTTAGAGCTAGTATTTGAATGATTCTCTAATGTAATGTCTAAAGTTATGACGAAACAGGTGATTTTGCTCACAGTTTAAGATCATAAGGCTGAACGGCATGAAAAGACATCAATCTACAGAGATTTCCCACACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36585
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000051105 Essential Splice Site 691 837 8 12
ENSDART00000133762 Essential Splice Site 448 594 6 10
Genomic Location (Zv9):
Chromosome 18 (position 11327087)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 11910017
GRCz11 18 11878735
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACCATATACCTGCACACCTCACATACGGCAAGCTCCTGGCTATGACGG[T/G]AAACAAACACAATAACCCACACTGAAAGAAAAAGCGCTTGAGTTGTTTAG
Long Flanking Sequence:
ATGTTTAGAAATGTGTTAAAAAAATCTCCTCTCTGTTAAACAGAAATTGAGGAAAAAATAAACAGGGGGGCTAATAATTCAACTTCAGCTGTATACTTTATGCTCATTATTATATACTACAAATACTGTTAAATAAATCTAATCTAATGAAAAATAATCTCTTTAATAATTAATGCTTATCTTCTGGTCAGTAAGCAATAACCAGCTACATGTTGGTTTCACTCCAGTATCCAATTTCATGAAGTGTTGATTTTTTTGTGGTTTGTTTTCAGTTGACTGCCTTCATTTCTGCTGTGGGATGAAGCACGGCGCAGGGCTGGTTATGTGCTTCTTTAACTTCTGACCTGTTGACCTGACCTCTGTCTCGTGTCTCACAGGAGAGGCCTTCATGAGGCTGAACAAACTCACGGAGGCAGAACACTGGTATAAAGAGTCCCTCCGAGCCAAACCTGACCATATACCTGCACACCTCACATACGGCAAGCTCCTGGCTATGACGG[T/G]AAACAAACACAATAACCCACACTGAAAGAAAAAGCGCTTGAGTTGTTTAGCTATAAATATTTAGACAGAGGTTTGCCAGTTTGAACCTTGGGAAATAAAATCCAGGAACTTTGCCTTGCTCAAAACCTTGCTGAAAATGAAATCATTATTTAACATCCTTTGTGTTGTTCTAAAACAGGGGTCCCTGCAGGTTTTAGCTCTAACTTGCCTCAATACACTGTGTTTCAAGTATATCTAGTAAGACCTTGATTAGCTTGTTCAGGTGTGTTTAATTAGGGTTGGAGCTAAAATCTGCAGGACACCGGCCCTCCAGGAATAAGTTTGGTGACCCCTGTTCTAAAACATTTGACTTGCAGTACTGAAAGCTAAATGCACCAGCTTGACTTGTAGGATGATGATGGCTCTACATACAGTTTTTTAAATTACTGTAATCTGTGAGAGTTAAGAAATATAAATATTGAGTAAATTACCTTTAAAGCTATTCAGATTAAATGCTTAGC
Associated Phenotype:
Not determined