ZMP
ARHGEF5
Ensembl ID:
Description:
Rho guanine nucleotide exchange factor (GEF) 5 [Source:HGNC Symbol;Acc:13209]
Human Orthologue:
ARHGEF5
Human Description:
Rho guanine nucleotide exchange factor (GEF) 5 [Source:HGNC Symbol;Acc:13209]
Mouse Orthologue:
Arhgef5
Mouse Description:
Rho guanine nucleotide exchange factor (GEF) 5 Gene [Source:MGI Symbol;Acc:MGI:1858952]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa22801 | Nonsense | Available for shipment | Available now |
sa14719 | Nonsense | Available for shipment | Available now |
sa36092 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22801
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000114437 | Nonsense | 572 | 1489 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 16 (position 19678908)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 17709231 |
GRCz11 | 16 | 17614249 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGACAGAATAATATCAGCAGATGATGGATTTGTGACAGTCTCTAGTGGA[G/T]GAGATATTGAAGACTGTATGGATTTCCGGAATGGTGAAGTTCCCACTGAT
Long Flanking Sequence:
AAATTGTTGTTGAGGAAACAGTTACAAAAAAATTTACAGGCAGAATAATGAACAGGTGGCTGGAACCCCGAAGAGAGAAAAACCCATCTCTTTTAGAGGAGGACTACAGAGACAGAGAAAGAGCACGGGAGAGGTACAACCAAAGATTCAAGGAAAGTACGAAGTATGAAGAAGATCCTGCAAGAAATAATGAAAGCAAGAGAACGAGTGCTAAGGACAAGTATAGGGCTGGGGAATTCATGGGGGACATAGATGTAGAAAGCAATGAAAAACTAGATAAACAAGAGGACATGGTTAATGACAAAGAAGCCGTGGAACCAGAATGGCGGGCAAAAAGAGAAATTGGGGGTAATAACATGGAAGTTAATGAAAGAGAGGAAGAGAGAAGCATTGATCGACACGACTACTCAGGAATTGAGGAAGGAAGTGAGGGAGAATCAAGAGCAGAGAAAGACAGAATAATATCAGCAGATGATGGATTTGTGACAGTCTCTAGTGGA[G/T]GAGATATTGAAGACTGTATGGATTTCCGGAATGGTGAAGTTCCCACTGATATCTCTGGATGCTCAGAAGCTACACAGGGTGAAGAGAGAGAACCCCTTAGGGTTTTTTGTGTGATTGGTCAAACCCCTATTGAGTCACAAACCAAGCAGAATCCATATATAGATACTGCTTCTGAGGAAGCCACCGATCAGCATTCAGATCAAAACATAGACATCCAAGGTGTTATGTTTATTGAGGATGCAAATGAAGCATTTGAAAAGTTTGAACACAAGGAATCTGACATAGAAGGAGCAATGGATGACCTCGCTCTTTCTGCTAATGAGGAAAAAGTGGAGCAAACAGGAGATAATGACCAGGGAACAGATGACATAACATCACTGAAAGGTCAAATGATTCCTTCCAAAGAGGGAGCAGAAGAAGAGCCTGCAGAGCCTTCTGTAACTTTAGACCCCTGCAATGATGATGGACCTGAGACTATAGTGGCTCCTAGTGAAGATGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14719
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000114437 | Nonsense | 1379 | 1489 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 16 (position 19692179)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 17722502 |
GRCz11 | 16 | 17627611 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACATTCCTTACAGAAAAACCTGTTCCGTCTGCACATGCCACAAAAAGCCT[T/A]GCTTTTGCGAACAGATACCCAGTAAGTATGCMATTGTGCTTGCTTGTTTA
Long Flanking Sequence:
AAAATAATAATAATCTGTAATTTTACGGTTTATTTCCAGCAGCTGGGGTACTGGGAAAAAAATGTAAAATAACAGCAGTTGAATTACAGAAGTTTACCAGAAATGTAAATTAAAGGAAATTTCTGTAACTAAATGTCTGTTATTTTACGATGAATGTCTATAATTTAACGACTGTTGTTTTACGTTTTTTCTCGGTACCCCAGCTGCTGAAAATAAAATTACAGATTTTTTTTTACAATTTAAACTAAATTGCATATTTGAGTTATCATACATCATTGATTTGTTACTAGATGCACACCATCCTCTTATTTGAATATAAGTCATTCCATGTGTTTTAAAGTTTTACGTCACATTGAAATCTTAACTTCCTGCTTGCAGAGGGGGTAGGTTTACAGTTATCGACCATGCTCCTGTATCAGAGCTGCGGGCCGAGAACTGCAGGTTCAAACTACATTCCTTACAGAAAAACCTGTTCCGTCTGCACATGCCACAAAAAGCCT[T/A]GCTTTTGCGAACAGATACCCAGTAAGTATGCCATTGTGCTTGCTTGTTTATGAAAAAAAAGTAGTTGTACTTGTATTCATGTAAACATACCAGTAGGTGTGATGTGGCAAGGCTACACAGCATTTTGATTTAGTGGCTTATTTGTATAATTTAGTACGATTTAGGTGGGGTTGTGTGCTTCGCCTTTTAAAAATTGTACTAATTCAAACAAATTAGCCACTAAACTGACAGAATGTAAAATAGTTACAATTCCTCGTGAGATCATGCTGGATTTGCACATGCTAATTCAGCTCATAGCAAATAAAGATATTTGCACTTGACCATTTATTTACCTTTATGCTGTATTTCCTGTATTTCAAGTGTTCGAGTGGAGGCAAAGACTGCATGTGTTCTGTTAAACACACTCATCTCCATTAAAAAAACATCTGCTGAATAAATTTTACTCAAACAATATGTGATATCTAATTAAATTTAATTAAACTAACCTCTACCACCAAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36092
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000114437 | Essential Splice Site | 1445 | 1489 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 16 (position 19694575)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 17724898 |
GRCz11 | 16 | 17630007 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTTAGAGAAAGCTGATGTCCTTGTAGTTCACCAGCAAAGTAGTGATGG[T/A]GAGTTAGAACACTAAACACATTAACGAAAAATACCCCTATATATTTATCA
Long Flanking Sequence:
TCAGAGACTTATTTTGTATCTTGTAAAAACGGGCATAATAGGTCCCCTTTAAAAACCTTTTAAAACGCAGGAAACTGCATCACAAGTGTAACTGGACACACTTGCTGTAGAGTTTTACCTTTACAAGCCTTTTCTAAAACATTGAATTTTTTATTTAGATCAGAAAATGATACTATATTCATCTAGTATTTTGCAATCTGATTATACAGAATGATGTGATATACTAATCCTTGTATTAACTTTCCTCAGAGCTGATAATCTGCGCTGGATATCAGCGCTCTCACGTCCTTATCCTGAGATTGACTTCGGTGCAGTTCAGGGTATGCTCTACCTAAAATTGCAATATCAAAGCAGATATTCTAATATTAATAATGTTTCTTTTTTACATTTTCAGAAACTCCACAAATGCAGTGCATCAGAGCATATGTTGCCCAGCAACCAGATGAACTCAGTTTAGAGAAAGCTGATGTCCTTGTAGTTCACCAGCAAAGTAGTGATGG[T/A]GAGTTAGAACACTAAACACATTAACGAAAAATACCCCTATATATTTATCACTATATCTGACACCCCTTCCGTTTCAGTTGACACAACACACCACTACATGCACAACAGCAATGTAGAACGGTAGCGCTTTTTTAGATTACCGTGTTGTTGTTGTTTGCTTCATTATTTTTTATTTTTGCCATCTTTGGTAGATTGGTCCCTCTGTAAATGAACAGGCTGCATCTGTGTTCTTTAATCCTTGCACTGTCTGTAGATTGCAAGAAAGAATTTTCCACTCTCACTGCTGTTTTTGTGGGCTTGTGACTTCATCAATAGTGATTATTTAGTAATGACCTCTTCAGTGGTTTGAAACAACAAACTCATAGTTATAAGCTCAGGGCCCATATTCACAAAAAAAAAAAATAAATAATTATCTAGCTATTAAATAGAAGCAAACGTTTTTAATTTAGAGAATTGTCTAAAAGTTGTTCACAAAGCTTCTAAGATTAATCTTTACTAAG
Associated Phenotype:
Not determined