si:dkey-233k19.1

Ensembl ID:
ENSDARG00000074307
ZFIN ID:
ZDB-GENE-100922-160
Human Orthologue:
RAPGEF5
Human Description:
Rap guanine nucleotide exchange factor (GEF) 5 [Source:HGNC Symbol;Acc:16862]
Mouse Orthologue:
Rapgef5
Mouse Description:
Rap guanine nucleotide exchange factor (GEF) 5 Gene [Source:MGI Symbol;Acc:MGI:2444365]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa39094 Nonsense Mutation detected in F1 DNA During 2018
sa16233 Essential Splice Site Available for shipment Available now
sa2850 Nonsense Available for shipment Available now
sa32084 Essential Splice Site Available for shipment Available now
sa22805 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa39094
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 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114954 Nonsense 104 860 4 26
ENSDART00000138126   None 364 None 12

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 21000411)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 19237166
GRCz11 16 19042805
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACATCTTTAACACTTTCCTGTGTTTGCTTTATATTATCAGGAGGACGTA[T/A]ATTGGTATAGAGCTGGTGGAATGGCTGATGGACCATTGCGAATTCATCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16233
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114954 Essential Splice Site 198 860 None 26
ENSDART00000138126   None 364 None 12

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 21000933)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 19237688
GRCz11 16 19043327
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCCTTCAGCTGGTCCCACAYGAGCAGCTCTGTRGTGGAACCCAGAGGCGG[T/C]GAGCACATGGTTACACATAAAGCTTAATAATGGTGTTTTTTYCAAGGTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2850
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114954 Nonsense 210 860 6 26
ENSDART00000138126   None 364 None 12

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 21006327)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 19243082
GRCz11 16 19048721
KASP Assay ID:
554-2883.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTTTGCTTTGTAGCTGTAAAGAAGATAAACAGAAAACACCTGATGCTTG[T/A]AATCCAGTTCTTCAAATGAGGGCATTGGAGCATTTCACCTCAACAGTAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32084
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114954 Essential Splice Site 380 860 12 26
ENSDART00000138126   None 364 None 12

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 21081987)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 19318742
GRCz11 16 19124381
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTCTCATTGGATCGTCTAATGTGTGTGTTACATGTTATGTTTATTTTCA[G/T]ATAGTCTGCTGGATGATTTTCTTCTGACGTACCCAGTGTTCATGTCTACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22805
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114954 Essential Splice Site 524 860 16 26
ENSDART00000138126 Essential Splice Site 28 364 2 12
Genomic Location (Zv9):
Chromosome 16 (position 21093778)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 19330533
GRCz11 16 19136172
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGGAGAGCTGGCATCCCATGAGGGGACCAGAGAGAGAGAGGAAAGAAGG[T/G]AAGCTCATAAAATATTCCTCTCATTTTTCTCTCATCACTCTCCGACTGCC
Associated Phenotype:
Not determined

GWAS

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

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

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