crygs1

Ensembl ID:
ENSDARG00000042992
ZFIN ID:
ZDB-GENE-050223-4
Description:
crystallin, gamma S1 [Source:RefSeq peptide;Acc:NP_001013294]
Human Orthologue:
CRYGS
Human Description:
crystallin, gamma S [Source:HGNC Symbol;Acc:2417]
Mouse Orthologue:
Crygs
Mouse Description:
crystallin, gamma S Gene [Source:MGI Symbol;Acc:MGI:1298216]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa4189 Essential Splice Site Mutation detected in F1 DNA During 2014
sa4186 Nonsense Mutation detected in F1 DNA During 2014
sa3154 Nonsense F2 line generated During 2014

Mutation Details

Allele Name:
sa4189
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
ENSDART00000063127 None None 174 None 3
ENSDART00000145265 Essential Splice Site 7 178 1 3
Genomic Location:
Chromosome 22 (position 11824169)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTGCCGCCACCAGACGAACCTCTGCAGAATGGGCCGGGTGAGTACGAAG[G/A]TGATCAGGACACTCTGCTCCAATTATTGATACTACTTTTTGATAGTCNNNGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4186
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063127 Nonsense 43 174 2 3
ENSDART00000145265 Nonsense 47 178 2 3
Genomic Location:
Chromosome 22 (position 11823780)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCATACGTAYCTGAACCGCTGTAACTCCATCCGYGTGGAGAGTGGGGCCT[G/A]GGTGGTCTATGAGAGACCCAACTTCATAGGCTACCAGTATGTTCWGACCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3154
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063127 Nonsense 111 174 3 3
ENSDART00000145265 Nonsense 115 178 3 3
Genomic Location:
Chromosome 22 (position 11820968)
KASP Assay ID:
554-2547.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TATGACAAAGGAGATTTTGCCGGCCAGGTGTACGAGACCACCGAGGATTG[T/A]CCATCCGTGGTGGAGCGTTTCCGGACACGCGAGGTCCACTCCTGTAAGGT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/lbc0mf1u