Busch Lab

ZMP

tmtc2

Ensembl ID:
ENSDARG00000045753
ZFIN ID:
ZDB-GENE-041210-299
Description:
transmembrane and TPR repeat-containing protein 2 [Source:RefSeq peptide;Acc:NP_001124075]
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 6 alleles of this gene:

Allele Name Consequence Status Availability
sa20223 Nonsense Available for shipment Available now
sa33404 Essential Splice Site Available for shipment Available now
sa18174 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa20223
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
ENSDART00000067261 Nonsense 48 844 2 12
ENSDART00000146417 Nonsense 21 817 1 11
Genomic Location (Zv9):
Chromosome 4 (position 10059629)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 10996256
GRCz11 4 10995105
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACCAACCAGGACCTCCTACCGGACACCCCATGGACGAACATTCTATA[T/A]GATGACTTCTGGGGCACTTTGCTTACCCACAGCGGCAGCCACAAGTCTTT
Long Flanking Sequence:
AAGCATTAAATTAGAATAAATAAATACATATTTGTTTGTAATAAAACCCACCTGTAATAGATCTGTAAATTATACGATATTATAAATAGTAAATTGATTGTATATTAAATGTATTGCATTATTGTTACTGGTGATTGGTGATGTTTATTCAGTAACAAATGAAATCACTATTGTTTTTTAATTAATTATTCCTTATTAAATAGCACACATATTTCACGTTAGTGTTTGTAAAGTATATTTGTTAAAAAGATTAATGGAATAAGAAAACTTCAGCTGAAGTCCTCCACTACTTAAGGTTATTAATCAACTGAAAATATGCATACATAAACCTTTACGCAAAAAAAAAGAAGTCATATCCTATTCATAAATATCATTCTAAAGGCTGTATTTTTTGCATTTTTTAATCATGTGATTTCCTCATTCTCTCTCCATCTCTGTAGTCGAGCAATCAAAACCAACCAGGACCTCCTACCGGACACCCCATGGACGAACATTCTATA[T/A]GATGACTTCTGGGGCACTTTGCTTACCCACAGCGGCAGCCACAAGTCTTTCCGTCCTCTCTGCACCATCTCTTTCCGCCTCAATTATTTCTTGGGTGGCCTGGATCCCTACGGCTTCCACCTGTTCAACGTGGGCCTTCACTGCTGCGTCACTGCCCTCTTCACTGCATTCTGTCGCCCCTTGCTGGGTGGAGGACCTTGGAGTCTGTTGGCAGGACTGCTCTTCGCCTCTCATCCCATACACACCGAAGCGGTAGCTGGGGTCGTGGGCCGAGCAGATGTTGGAGCAGCCTTTTGCTTCTTATTGTCACTTCTCTGTTATTCCCAATATTGCCGTCTCAGGCATAATGCAGCACACTCGAGTCGGGTTGCGTGGCGTGCTGGATCTTGGCTTGCTGGAAGCCTGGGTGCTGCTGCAGCTGCTTTACTGTGGAAGGAGCAGGGGGTGACTGTTCTGGCTGTTTCAGCTGTTTATGATGTCTGTGTTGTGCATCGGCTGCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33404
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067261 Essential Splice Site 698 844 8 12
ENSDART00000146417 Essential Splice Site 671 817 7 11
Genomic Location (Zv9):
Chromosome 4 (position 10046798)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 10983425
GRCz11 4 10982274
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATCATATTCCTGCCCACCTGACCTATGGAAAGCTACTGTCTATTATGG[T/G]GAGTCAATCTGATTAGAACATTATTGACACGATTGTGTTCATGTTCATAT
Long Flanking Sequence:
AGTGACTTTACTGCCCATTCAAGGCGTACATTAATAGTACATAGGAGATTCTTAGGGAACCAAAGGCATGACCTTGGTTTTGAAAGTTTAACTTGTAGTGTTTTGGTTTCTTTCCTTTCATTAATATTGTATGAAGGAGACTACAGCGGTCTTTTTCAATCTCACAACAGGGTTTACTTTTGATTCTGGACATCAGGCAGTATAAGATCTTTTTTTGTGTTAATGTGTAGTGGTTTTTTGTCTGTGAATCAATTTTGGGAAAATCAATATCTTAAAATGTTTTCAATCACTGTTCAAAATATAACATAGTGATGCATGCCTTTCAGTGCACTTGGATTGTTAACAAGTTTAGGTGATTTTCTGATTTTGGCCTACAGGTGAGGCGTATATGAGGCTGAATATTCTAGAGGAAGCTGGACATTGGTATAGAGAGTCACTAAAGGCCAAACCAGATCATATTCCTGCCCACCTGACCTATGGAAAGCTACTGTCTATTATGG[T/G]GAGTCAATCTGATTAGAACATTATTGACACGATTGTGTTCATGTTCATATTAGTATAATATAATTAGGCTCTTTCATCCATCCATTTATCATTTCTTTTTCCTTTCTGTCCTTTCTATGTGGCCATCCGTCTATTCATCATCCCTTTTTCAATTCATTCTTCAGACAATTACCATCCATCCGTCCATTCATCTAATTATCCATTCATTCATGCATTTTCCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTTCCTGTCCATCCATACATCCATATATCAATCCATTCATCCATTCATTTTCCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTTTTTCTGTCCATCCATCCATTTTCCTGTCCATCCGTCTATCCATCCATCTATCCATCAATTTTCCTGTCTATCCATCCATAAATCCATCCATCCATCCATCCATCCATCTATCCATCCATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18174
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067261 Essential Splice Site 726 844 9 12
ENSDART00000146417 Essential Splice Site 699 817 8 11
Genomic Location (Zv9):
Chromosome 4 (position 10044238)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 10980865
GRCz11 4 10979714
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGGCRATAGAGCTGGANCCTGCTAGAGGAAACTGCTATATGCATTATGG[T/C]RGGACATTAATTRGAMAACTGTACTCACTTAAAACAGTTGGGTTAATNNT
Long Flanking Sequence:
ATTAAGTATTATAGACCTATACATTTTTGATAAGCGCTTTTGGATGTAGTTGAATGCTTTTCAGCAACCGCAGCCAACGAGAGCATGCAATACTACGGCTTTCCAAGTTATTTCTTTTATCTAAAGTGTTTAGCACAGAAGCGTTCATTGTAGCAAGTCTAATATGACCGCGCTGTTTATGACAAGACTGTTTGCTAAGGTAACACCAACATGGAAGCAATCAGCGCTGAACCATAAAGAAAGTGAGACAACTGCTCATTAAACATGAAGAAACGAGTACACAAGTGCGCTTACTTTCCCACGCTATGATAACATCTAACATCATACGTTGTGCAAATTTAAAGCATCCGTTTACGACCGTGCTTCTTCATTAGTGACGGTGGGTGCGGGCTTAATTGTTTCTTAATTTCTCCACAGGGACAGAAGTCTGAAGCAGAGCGTTACTTCCTGAAGGCGATAGAGCTGGATCCTGCTAGAGGAAACTGCTATATGCATTATGG[T/C]GGGACATTAATTAGACAACTGTACTCACTTAAAACAGTTGGGTTAATAATAACCCAACAGGAAACCCAACAATGTTTTTTTTTTTTTTCTTAAGAACCGCTGTTAGGTTATTTTAATCCAATATATTAGGTTGTTTATGACGATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATGATGATGATGATGATGATGATGATGATAATAATAATACTAACAATAATAATAATAATAATACTAACAATGATAATAATAATAATAATAATAATAATTGTAATAATAATAGTAATAATGATGATAATAATAATAATAATAATAATTGTAATAATAATAATAATAATAATAATAATAATAATAATAATTGTAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAACAACAATAATAATAATAATAATTGTAATAATAATGATAGTAATAATAATAATAATAATAATAATAGTTATTG
Associated Phenotype:
Not determined