LOC571725

Ensembl ID:
ENSDARG00000076404
Human Orthologue:
MCTP1
Human Description:
multiple C2 domains, transmembrane 1 [Source:HGNC Symbol;Acc:26183]
Mouse Orthologue:
Mctp1
Mouse Description:
multiple C2 domains, transmembrane 1 Gene [Source:MGI Symbol;Acc:MGI:1926021]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10830 Nonsense Available for shipment Available now
sa18034 Essential Splice Site Available for shipment Available now
sa5317 Essential Splice Site Mutation detected in F1 DNA During 2014
sa8204 Nonsense Mutation detected in F1 DNA During 2014
sa18819 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa10830
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113985 Nonsense 41 726 2 21
Genomic Location:
Chromosome 5 (position 52322239)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CRAACTTCCTCCRTTGCCWAAGCCAAGGATGTATCAGCTGGACATTRTGT[T/A]GAAGAAGGGCAATAATCTGGCCAWYAGGGACAGAGGAGGTATGTGCTCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18034
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113985 Essential Splice Site 233 726 7 21
Genomic Location:
Chromosome 5 (position 52268665)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGACCCTTATGTCAAATTCAGAMWGGGACATCAAAAGTACAAAAGTAAGG[T/A]ATGGGYCATGAGCTGTATTCCAGTTACTTGTTCTATAGAGAATTGCTCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5317
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:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113985 Essential Splice Site 578 726 16 21
Genomic Location:
Chromosome 5 (position 52206153)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAACTACATTCTCATTGCTTCAGGGAAGGACACAAGGCAGGGAGATGTGG[T/A]AAGTCTCACATCTACTGCATTTCAWTACAACCCCTTCACTKTCACTATTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8204
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
ENSDART00000113985 Nonsense 683 726 20 21
ENSDART00000113985 Nonsense 683 726 20 21
Genomic Location:
Chromosome 5 (position 52151396)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTCACTTCTCAGGGGTGAACAAGTTTACCAAAAAACTACGAGACCCRTA[C/A]AGCATCGACAACAATGAGCTTTTGGACTTCTTGTCCCGAGTGCCCTCAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18819
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
ENSDART00000113985 Nonsense 683 726 20 21
ENSDART00000113985 Nonsense 683 726 20 21
Genomic Location:
Chromosome 5 (position 52151396)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTCACTTCTCAGGGGTGAACAAGTTTACCAAAAAACTACGAGACCCGTA[C/A]AGCATCGACAACAATGAGCTTTTGGACTTCTTGTCCCGAGTGCCCTCAGA
Associated Phenotype:
Not determined

GWAS

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

  • Bipolar disorder: Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (View Study)

(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/xk5l6685