tmtc4

Ensembl ID:
ENSDARG00000020447
ZFIN ID:
ZDB-GENE-070912-148
Description:
transmembrane and tetratricopeptide repeat containing 4 [Source:RefSeq peptide;Acc:NP_001166973]
Human Orthologue:
TMTC4
Human Description:
transmembrane and tetratricopeptide repeat containing 4 [Source:HGNC Symbol;Acc:25904]
Mouse Orthologue:
Tmtc4
Mouse Description:
transmembrane and tetratricopeptide repeat containing 4 Gene [Source:MGI Symbol;Acc:MGI:1921050]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14987 Nonsense Available for shipment Available now
sa21512 Nonsense Available for shipment Available now
sa34677 Nonsense Mutation detected in F1 DNA During 2016
sa21511 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa14987
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078681 Nonsense 285 739 7 17
ENSDART00000127214 Nonsense 285 739 8 18
ENSDART00000133427   None 62 None 4
ENSDART00000136838   None 55 None 3
ENSDART00000142904 Nonsense 285 299 8 8
ENSDART00000146268   None 32 None 2
Genomic Location (Zv9):
Chromosome 9 (position 32549326)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 31705272
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGGTTGRCTCTACTCTTTCTTGGTGGTTCCTTACTTATGTACAYGAGATG[G/A]AAAATCATGGGAACTGGACCTCCATCTTTYACMGAGGTGGATAACCCAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21512
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078681 Nonsense 359 739 8 17
ENSDART00000127214 Nonsense 359 739 9 18
ENSDART00000133427   None 62 None 4
ENSDART00000136838   None 55 None 3
ENSDART00000142904   None 299 None 8
ENSDART00000146268   None 32 None 2
Genomic Location (Zv9):
Chromosome 9 (position 32545772)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 31701718
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGATTAGCTCAGCTGCTGATTGGAGGATCGTCTGGCCTGCTGTGCTGTG[G/A]TTCTGTCTGATTGGCTTGGTGAGCCAAGCTCTGTTCTCACAGGACAGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34677
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078681 Nonsense 466 739 10 17
ENSDART00000127214 Nonsense 466 739 11 18
ENSDART00000133427   None 62 None 4
ENSDART00000136838   None 55 None 3
ENSDART00000142904   None 299 None 8
ENSDART00000146268   None 32 None 2
Genomic Location (Zv9):
Chromosome 9 (position 32543654)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 31699600
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGTGAATGTGACTCGCTCTGCACAGCGCAGTCAACAGTGGAGGTCTGAA[C/T]AGAGTCTCTTCACCAGCGCCCTTTCTGTGTGCCCGCTCAACGCCAAGGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21511
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078681 Essential Splice Site 630 739 14 17
ENSDART00000127214 Essential Splice Site 630 739 15 18
ENSDART00000133427   None 62 None 4
ENSDART00000136838   None 55 None 3
ENSDART00000142904   None 299 None 8
ENSDART00000146268   None 32 None 2
Genomic Location (Zv9):
Chromosome 9 (position 32540728)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 31696674
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GACCACAGCTTGGCATGGAACAATATGGTCATACTGTTAGACAACACTGG[T/A]AATGTACACCTGATTTTGTTTGTTTGATCAGATTTAAAAGATCAATGAAT
Associated Phenotype:
Not determined

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