SFMBT1

Ensembl ID:
ENSDARG00000044915
Description:
Scm-like with four mbt domains 1 [Source:HGNC Symbol;Acc:20255]
Human Orthologue:
SFMBT1
Human Description:
Scm-like with four mbt domains 1 [Source:HGNC Symbol;Acc:20255]
Mouse Orthologue:
Sfmbt1
Mouse Description:
Scm-like with four mbt domains 1 Gene [Source:MGI Symbol;Acc:MGI:1859609]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa35056 Nonsense Mutation detected in F1 DNA During 2017
sa8532 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa35056
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041725 Nonsense 113 869 2 19
Genomic Location (Zv9):
Chromosome 11 (position 18736277)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 18153591
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGGTGCGACATCATGACCGCTGACCTGCACCCGATTGGATGGAGCAAA[C/T]AGCAAGGTCGAATGATGAAACCTCCAGAGGGTGAGCAGAGATTTGTGGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8532
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041725 Nonsense 456 869 10 19
Genomic Location (Zv9):
Chromosome 11 (position 18710403)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 18127807
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGACTCCATGGATATTTTCCCAGTGAGCTGGTGTGAGACAAATGGTTA[T/A]CCTCTACTGCACCCCTGCAAGCCCAGAGGTCRGTTTTAMAGCATAAACTG
Associated Phenotype:
Not determined

GWAS

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

  • Bipolar disorder: Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (View Study)
  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)

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

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