LOC799265

Ensembl ID:
ENSDARG00000091498
Human Orthologue:
MFSD11
Human Description:
major facilitator superfamily domain containing 11 [Source:HGNC Symbol;Acc:25458]
Mouse Orthologue:
Mfsd11
Mouse Description:
major facilitator superfamily domain containing 11 Gene [Source:MGI Symbol;Acc:MGI:1917150]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20107 Essential Splice Site Mutation detected in F1 DNA During 2014
sa20106 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20107
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125228 Essential Splice Site 113 447 4 13
Genomic Location:
Chromosome 3 (position 42643145)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACATGGTCCTTTTATTTCACATCAGTGGTCATTGGCTTTGGGGCAGCCAG[T/C]AAGTACATGTTTAAAACACAAAGCCACATTCATCATGTATTTCATTTAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20106
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
ENSDART00000125228 Essential Splice Site 352 447 11 13
Genomic Location:
Chromosome 3 (position 42638459)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTGTGGTTCTACAAACAAGCTCACAGCATAATCCATATCTGGCACCAAG[G/A]TAGACATTTTCAAGACACTCTTATACTTCAGCTGCTGATGTAATTTTGAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/x6vc0m58