mad1l1

Ensembl ID:
ENSDARG00000033852
ZFIN ID:
ZDB-GENE-040426-1081
Description:
mitotic spindle assembly checkpoint protein MAD1 [Source:RefSeq peptide;Acc:NP_957206]
Human Orthologue:
MAD1L1
Human Description:
MAD1 mitotic arrest deficient-like 1 (yeast) [Source:HGNC Symbol;Acc:6762]
Mouse Orthologue:
Mad1l1
Mouse Description:
mitotic arrest deficient 1-like 1 Gene [Source:MGI Symbol;Acc:MGI:1341857]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa19431 Nonsense Mutation detected in F1 DNA During 2014
sa3377 Essential Splice Site Mutation detected in F1 DNA During 2014
sa14241 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa19431
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048610 Nonsense 374 717 10 17
ENSDART00000103478 None None 323 None 9
ENSDART00000103479 None None 323 None 9
ENSDART00000147904 Nonsense 374 717 11 18

The following transcripts of ENSDARG00000033852 do not overlap with this mutation:

Genomic Location:
Chromosome 1 (position 8897163)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGTTCGCTCTGTGGAAAAGGCCCGCTCTGAGCTCCTGACCGAGATTGCT[C/T]AGCTGCGCGCCAAGGCTCAAGAAGAACAGAAGAAACGAGAGAACCAGGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3377
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
ENSDART00000048610 Essential Splice Site 452 717 11 17
ENSDART00000103478 None None 323 None 9
ENSDART00000103479 None None 323 None 9
ENSDART00000147904 Essential Splice Site 452 717 12 18

The following transcripts of ENSDARG00000033852 do not overlap with this mutation:

Genomic Location:
Chromosome 1 (position 8889592)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGGCAGAGGACATGCTGCAGAAAGTCCAGGCTCATAATGCAGAGATGGAG[G/A]TGAGGATTACATTACCCATAATTCACACCAGAACAATTATTTCAAATGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14241
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
ENSDART00000048610 Nonsense 568 717 15 17
ENSDART00000103478 Nonsense 174 323 7 9
ENSDART00000103479 Nonsense 174 323 7 9
ENSDART00000147904 Nonsense 568 717 16 18

The following transcripts of ENSDARG00000033852 do not overlap with this mutation:

Genomic Location:
Chromosome 1 (position 8869337)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGGCAAAGCAGCAGCGRGCGGATGAGGTGGAGCAGCTCAGGGTGGAGTG[T/A]CAGCGTTTGAGGGACCGACTCCGCAAAATCGARRTGGCTGGTGGCATGAC
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)
  • Longevity: Joint influence of small-effect genetic variants on human longevity. (View Study)
  • Schizophrenia: Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. (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/4lnr1k4d