gps1

Ensembl ID:
ENSDARG00000040650
ZFIN ID:
ZDB-GENE-041111-240
Description:
COP9 signalosome complex subunit 1 [Source:RefSeq peptide;Acc:NP_001071227]
Human Orthologue:
GPS1
Human Description:
G protein pathway suppressor 1 [Source:HGNC Symbol;Acc:4549]
Mouse Orthologue:
Gps1
Mouse Description:
G protein pathway suppressor 1 Gene [Source:MGI Symbol;Acc:MGI:2384801]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa11784 Essential Splice Site Available for shipment Available now
sa5214 Nonsense Mutation detected in F1 DNA During 2014
sa18759 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa11784
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059506 Essential Splice Site 345 487 10 14
ENSDART00000141106 Essential Splice Site 348 490 10 14

The following transcripts of ENSDARG00000040650 do not overlap with this mutation:

Genomic Location:
Chromosome 3 (position 36238272)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTAYGAGTCAAAGTATGCATCTTGTCTGAAAATGCTGGATGAAATGAAG[G/A]TAAGATTGACTAAGCAGAGTTTCAGATAGTRATTTCTGTCTCTTGTRGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5214
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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059506 Nonsense 418 487 12 14
ENSDART00000141106 Nonsense 421 490 12 14
ENSDART00000059506 Nonsense 418 487 12 14
ENSDART00000141106 Nonsense 421 490 12 14

The following transcripts of ENSDARG00000040650 do not overlap with this mutation:

Genomic Location:
Chromosome 3 (position 36237193)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCCAACTGATCCTGGAGGGCCTGATCAATGCTCGCATCGACTCCCACAGC[A/T]AGGCAAGCCTGCTCTCTRCCTCTTTCTCACTCTTTCTCTCTCTTGTCATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18759
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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059506 Nonsense 418 487 12 14
ENSDART00000141106 Nonsense 421 490 12 14
ENSDART00000059506 Nonsense 418 487 12 14
ENSDART00000141106 Nonsense 421 490 12 14

The following transcripts of ENSDARG00000040650 do not overlap with this mutation:

Genomic Location:
Chromosome 3 (position 36237193)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCCAACTGATCCTGGAGGGCCTGATCAATGCTCGCATCGACTCCCACAGC[A/T]AGGCAAGCCTGCTCTCTGCCTCTTTCTCACTCTTTCTCTCTCTTGTCATC
Associated Phenotype:
Not determined

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/bvqepzyw