ttll3

Ensembl ID:
ENSDARG00000053728
ZFIN ID:
ZDB-GENE-060616-182
Description:
Tubulin monoglycylase TTLL3 [Source:UniProtKB/Swiss-Prot;Acc:Q1ECV4]
Human Orthologues:
RP11-266J6.1, TTLL3
Human Descriptions:
ARPC4-TTLL3 fusion protein [Source:RefSeq peptide;Acc:NP_001185722]
tubulin tyrosine ligase-like family, member 3 [Source:HGNC Symbol;Acc:24483]
Mouse Orthologue:
Ttll3
Mouse Description:
tubulin tyrosine ligase-like family, member 3 Gene [Source:MGI Symbol;Acc:MGI:2141418]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa40756 Essential Splice Site Mutation detected in F1 DNA During 2016
sa15000 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa40756
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103992 Essential Splice Site 115 771 5 13
ENSDART00000130665 Essential Splice Site 133 789 5 13
Genomic Location (Zv9):
Chromosome 6 (position 40278273)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 40349873
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGAGGAGGTCGAGAGGGATGATGAAGCAGAGGATCTGTATGACCTAATGG[T/C]ATGTTTAGACTGTAAAATCCCATTCTAATGACAGTTGAACATTAATCTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15000
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103992 Nonsense 688 771 13 13
ENSDART00000130665 Nonsense 706 789 13 13
Genomic Location (Zv9):
Chromosome 6 (position 40260483)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 40332083
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TACCTTCAACCTGTTGCRTTCTTCCAAACCCAACAGAACTTCATCATCCA[C/T]AAAGACTATCCCACACTCAGCCCCAATCAGATYGCCCTCACACACACAGG
Associated Phenotype:
Not determined

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