fmn1

Ensembl ID:
ENSDARG00000011975
ZFIN ID:
ZDB-GENE-041001-198
Description:
Novel protein similar to vertebrate formin (Limb deformity) (FMN) [Source:UniProtKB/TrEMBL;Acc:Q5RIQ
Human Orthologue:
FMN1
Human Description:
formin 1 [Source:HGNC Symbol;Acc:3768]
Mouse Orthologue:
Fmn1
Mouse Description:
formin 1 Gene [Source:MGI Symbol;Acc:MGI:101815]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa11299 Nonsense Available for shipment Available now
sa1135 Nonsense F2 line generated During 2015
sa29378 Nonsense Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa11299
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019819 Nonsense 40 1303 1 13
ENSDART00000136804   None 443 None 13
Genomic Location:
Chromosome 20 (position 29462790)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATCACTGTCTGAGGAAAATACAAATATKATTAATTTTCACTCTTTGACT[G/T]GAAAAGGAGATGTTCATGGTCAACAAACATGTATTCAAAGGCAGGATGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1135
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 2015.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019819 Nonsense 985 1303 5 13
ENSDART00000136804 Nonsense 69 443 2 13
Genomic Location:
Chromosome 20 (position 29471625)
KASP Assay ID:
554-1046.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTGCTAAAGCCACATCGCCCACCAAAAGAAAGCCCCTATCTGATGCCTA[T/A]GAGAAGAAAACCAAAGCCAGGAAGGTAGCACKCTTTCCTCAAGATCAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29378
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 2015.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019819 Nonsense 1300 1303 13 13
ENSDART00000136804   None 443 None 13
Genomic Location:
Chromosome 20 (position 29489848)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTATTTATGGGCTCTGTCACATCGGCCAATCCCTCACGTCTACCCTGTTC[A/T]GATATGAAGTTTAGTTGGTCTCTGAGACAATCCGTCTCTCTAGATGATTG
Associated Phenotype:
Not determined

GWAS

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

  • Major depressive disorder: Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (View Study)
  • Orofacial clefts: Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. (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/6p75gatk