TENC1 (2 of 2)

Ensembl ID:
ENSDARG00000068397
Description:
tensin like C1 domain containing phosphatase (tensin 2) [Source:HGNC Symbol;Acc:19737]
Human Orthologue:
TENC1
Human Description:
tensin like C1 domain containing phosphatase (tensin 2) [Source:HGNC Symbol;Acc:19737]
Mouse Orthologue:
Tenc1
Mouse Description:
tensin like C1 domain-containing phosphatase Gene [Source:MGI Symbol;Acc:MGI:2387586]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20760 Essential Splice Site Mutation detected in F1 DNA During 2014
sa2310 Nonsense F2 line generated During 2014
sa8239 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20760
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 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098906 Essential Splice Site 75 1333 2 21
Genomic Location:
Chromosome 6 (position 38968162)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTATAAATCTGTCAGAGAAACGTCATGACATCTGCAGGCTAAACCCAAAG[G/A]TATCTTCCTAATTTTAGATGTGCATAAAACCTCTTTTAAATGTCTCTATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2310
Current Status:
F2 line generated
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 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098906 Nonsense 623 1333 12 21
Genomic Location:
Chromosome 6 (position 38957401)
KASP Assay ID:
554-3083.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGCACAACATCACCAACTTCATGCTCTTGTCGGGATTGTTTACGATTA[C/T]GAGAGGATGTTGCCCTCCATTCTTTACGAGGAAGGGAATTAGAAACCCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8239
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 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098906 Nonsense 1223 1333 18 21
Genomic Location:
Chromosome 6 (position 38949228)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAACAGAGTCTCTGACGGGCCCGCAGGCCGTCTCAAAAACAACCAAGTG[C/A]ACTTTGACCCAGGAGCCTCGTCCTTCACCAACAGTCGTCCACTTCAAAGT
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/35rf1wit