si:ch1073-446e18.3

Ensembl ID:
ENSDARG00000086075
ZFIN ID:
ZDB-GENE-090313-3
Human Orthologue:
TTC3
Human Description:
tetratricopeptide repeat domain 3 [Source:HGNC Symbol;Acc:12393]
Mouse Orthologue:
Ttc3
Mouse Description:
tetratricopeptide repeat domain 3 Gene [Source:MGI Symbol;Acc:MGI:1276539]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17296 Essential Splice Site Available for shipment Available now
sa21623 Essential Splice Site Available for shipment Available now
sa21624 Nonsense Available for shipment Available now
sa31756 Nonsense Available for shipment Available now
sa30648 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa17296
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127228 Essential Splice Site 22 456 1 16
ENSDART00000145716   None 295 None 9
ENSDART00000146125   None 1168 None 27
ENSDART00000127228 Essential Splice Site 22 456 1 16
ENSDART00000145716   None 295 None 9
ENSDART00000146125   None 1168 None 27

The following transcripts of ENSDARG00000086075 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 174903)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 108885
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCAGATCTGGAGGAAGGACCCAATGTTCAGAGGCACAAAACCAARATTG[T/C]GAGTATATTTCAGTCATTTATTGCTTTCACAGCAGTGGCGAGGACAGAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21623
Current 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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127228 Essential Splice Site 22 456 1 16
ENSDART00000145716   None 295 None 9
ENSDART00000146125   None 1168 None 27
ENSDART00000127228 Essential Splice Site 22 456 1 16
ENSDART00000145716   None 295 None 9
ENSDART00000146125   None 1168 None 27

The following transcripts of ENSDARG00000086075 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 174903)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 108885
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCAGATCTGGAGGAAGGACCCAATGTTCAGAGGCACAAAACCAAGATTG[T/A]GAGTATATTTCAGTCATTTATTGCTTTCACAGCAGTGGCGAGGACAGAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21624
Current 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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127228 Nonsense 228 456 8 16
ENSDART00000145716 Nonsense 191 295 6 9
ENSDART00000146125   None 1168 None 27

The following transcripts of ENSDARG00000086075 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 182422)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 101366
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGTGATGAAATGAAGAACAAAGGAAACGAGCACTTTCAGAAGAAGAAATA[T/G]GACGTTGCCTTAAAGTGGTACTCTAAAGCCATTAAATACCAGTGAGTAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31756
Current 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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127228 Nonsense 384 456 14 16
ENSDART00000145716   None 295 None 9
ENSDART00000146125   None 1168 None 27

The following transcripts of ENSDARG00000086075 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 186699)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 97089
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGAAAGTCTCATCACTGTACTGTTGTTTTTCCTCCAGAAATCTGAAAAG[C/T]AGAAACAGCAGGCGGACACTTCAGGTGAGCTGAATAAGATTCTGAACAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30648
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 2017.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127228   None 456 None 16
ENSDART00000145716   None 295 None 9
ENSDART00000146125 Essential Splice Site 75 1168 3 27

The following transcripts of ENSDARG00000086075 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 190090)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 93698
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTGTGCGCTGATCTGCATTCTCGGCCCCGC[A/G]GGAGCACCTGGAGAGCCTGGTGGAGGTGTGCAGGTTTCCTCCTAAAGCAG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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