Busch Lab

ZMP

ARHGEF5

Ensembl ID:
ENSDARG00000076383
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
sa42696 Nonsense Mutation detected in F1 DNA Not yet available
sa22801 Nonsense Available for shipment Available now
sa5888 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa14719 Nonsense Available for shipment Available now
sa36092 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa42696
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114437 Nonsense 537 1489 1 14
Genomic Location (Zv9):
Chromosome 16 (position 19678803)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17709126
GRCz11 16 17614144
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGGTAATAACATGGAAGTTAATGAAAGAGAGGAAGAGAGAAGCATTGAT[C/T]GACACGACTACTCAGGAATTGAGGAAGGAAGTGAGGGAGAATCAAGAGCA
Long Flanking Sequence:
ACAGGAATAGAAAAAACACTTCTGAGAGTGAAAAGGAGAAGTTGAAAGGAAGAACAGATGGAGAGCAGGAAGTACGGATTGCACCAAGGGAAGAAGAGGGTAGACAAATTGTTGTTGAGGAAACAGTTACAAAAAAATTTACAGGCAGAATAATGAACAGGTGGCTGGAACCCCGAAGAGAGAAAAACCCATCTCTTTTAGAGGAGGACTACAGAGACAGAGAAAGAGCACGGGAGAGGTACAACCAAAGATTCAAGGAAAGTACGAAGTATGAAGAAGATCCTGCAAGAAATAATGAAAGCAAGAGAACGAGTGCTAAGGACAAGTATAGGGCTGGGGAATTCATGGGGGACATAGATGTAGAAAGCAATGAAAAACTAGATAAACAAGAGGACATGGTTAATGACAAAGAAGCCGTGGAACCAGAATGGCGGGCAAAAAGAGAAATTGGGGGTAATAACATGGAAGTTAATGAAAGAGAGGAAGAGAGAAGCATTGAT[C/T]GACACGACTACTCAGGAATTGAGGAAGGAAGTGAGGGAGAATCAAGAGCAGAGAAAGACAGAATAATATCAGCAGATGATGGATTTGTGACAGTCTCTAGTGGAGGAGATATTGAAGACTGTATGGATTTCCGGAATGGTGAAGTTCCCACTGATATCTCTGGATGCTCAGAAGCTACACAGGGTGAAGAGAGAGAACCCCTTAGGGTTTTTTGTGTGATTGGTCAAACCCCTATTGAGTCACAAACCAAGCAGAATCCATATATAGATACTGCTTCTGAGGAAGCCACCGATCAGCATTCAGATCAAAACATAGACATCCAAGGTGTTATGTTTATTGAGGATGCAAATGAAGCATTTGAAAAGTTTGAACACAAGGAATCTGACATAGAAGGAGCAATGGATGACCTCGCTCTTTCTGCTAATGAGGAAAAAGTGGAGCAAACAGGAGATAATGACCAGGGAACAGATGACATAACATCACTGAAAGGTCAAATGATT
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
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:
sa5888
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
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 964 1489 3 14
Genomic Location (Zv9):
Chromosome 16 (position 19683636)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 17713959
GRCz11 16 17619073
KASP Assay ID:
554-3909.1 (used for ordering genotyping assays)
KASP Sequence:
TCTTTCAGGAAACTTGGGAGGACAAAAAAGAGGAGTTCTAAATACTTTAG[T/A]AGGTGTTTGTGTTTTTTCATATACATGGCAAACCCTGTCTATTACAGACT
Long Flanking Sequence:
ACTTGGTAATAAAAGACAGGTGCAATTGATAAAAGATACAGCTGAACTTTGCTGGAAAGTAGAACTTGGGATTGGGCATTCTTGCCATATAGCATATGTGCCAATAAAAATGTTTTGGACTTCAGATGAAAACTGTAAATAAAAACTGCTGGTAACACTTTATTTTGATGGTACATGTGAGTATTAGTAGACTGACTGCTTAATATCTGTTGATACTGCTGCTAAACAGACATTTAACTGACTATAAGAAACTTTGCAAGTACCACAACCCTAACCCCAATGTTGCATGAAGATGCAATGTAACATACATTTAACAAAAGGACCATCAAAATAAAGTGTGACCAAAAAGCTTTTATTACATTTTTCTTTATTTGCAGTCTATCACAAAAATAATCTTTTCATCGATAGTCTTACAAATAAAGTATACCAGTTGCCGTATGCATTCTCTTTTCTTTCAGGAAACTTGGGAGGACAAAAAAGAGGAGTTCTAAATACTTTAG[T/A]AGGTGTTTGTGTTTTTTCATATACATGGCAAACCCTGTCTATTACAGACTATAAATTATTAGTTAAATTTTCTGCTTCTAAAATTCATTAAACTACAAATATACACACAATTTATACAACTATTTCCCATCGGTACATACCAAAGACTAGATAGTTAATAGTAACTAGTGCACAAAATCCACAAATACATAGTTCTAAATACATGGGTGGTAACAGAGAAGAAAAGTTTTGGCATTCCTAGCTGTGCTGCTTGCTAGTCCTCCAGGCTAAGAACAGGTTTGTGCTTGCAAATCACTCACATCTGCAGATAAACAGCTTCAAATGCTGGCTTAGACCTGCTACACCTATTTGATCTTAAAACATTTTACACATTAACACACTATTTTACTATGTCAGTGTTTCTCCTTCAATATTTCAGTTTCTCTGTAATTATTAACCTGAAATTTGATAGCATTTCCTGAGTAAGAATATGTATTGGCATATGTATTTAATGGCCTGGG
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
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