Busch Lab

ZMP

ENSDARG00000057107

Ensembl ID:
ENSDARG00000057107
Human Orthologues:
ARHGEF6, ARHGEF7
Human Descriptions:
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 [Source:HGNC Symbol;Acc:685]
Rho guanine nucleotide exchange factor (GEF) 7 [Source:HGNC Symbol;Acc:15607]
Mouse Orthologues:
Arhgef6, Arhgef7
Mouse Descriptions:
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Gene [Source:MGI Symbol;Acc:MGI:1920591]
Rho guanine nucleotide exchange factor (GEF7) Gene [Source:MGI Symbol;Acc:MGI:1860493]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa44165 Nonsense Mutation detected in F1 DNA Not yet available
sa30117 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa44165
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079705 Nonsense 144 343 4 10
Genomic Location (Zv9):
Chromosome 24 (position 30618507)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 29647598
GRCz11 24 29635749
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTCTAGGCCGTTTCCCACAGAAGAGAGTGTTGAGGATGAAGACATTTA[T/A]AACCATCTTGAGGATCTGATAGAGTGAGTCATTTTTCTGTGTCCACTGAT
Long Flanking Sequence:
TATTGTAGAAGATCACACATCTATCAGCCAATCAGATTCGAGAACCAGACAGAACTGTTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGAACACACAACAATATGTAATATATTAAAATCAGTTATTATGGATTGTATGAATAAATGTATTAATAAGTAGCAGTGTAGCTCCAATATTGACTTTGAATATACTCCTTTGTTTAACAAATGGTGATAATTTAATTTTTATTTTTCTCTTAGGTTATGGACACGCTGTCCAAACTCTCTCATACGCACATTGCACAGCAGACTGGAATAAGGTATGTTTAAAAAGAGCAAGTGAATTATTTCCACTTTTATAAGAGAGCTGATAAATAATGTATATTTTGTGTCCGGGTCTTTCTATTCTAGGCCGTTTCCCACAGAAGAGAGTGTTGAGGATGAAGACATTTA[T/A]AACCATCTTGAGGATCTGATAGAGTGAGTCATTTTTCTGTGTCCACTGATGCTCTTCTTCTGCAGAAATGAGATGATGTTTGAACCCACAGCTCACTGTATGATACTTTGTCTGTTTAGGGAGCTACAGGAGCCTCGGGCTTCTTAATGCATTGATGTTGACAAATTGAGTCATTGCACATACTGTACATGCTGTTCCCTGTAACAGGGTCATTAACTACAACCAAATATAAAATTTAAAATGTTTAAAATTGAACTGTTGTTACTTACTGGGAATATTTAAATATATATAAATATAATAAAATTTACACTAGCTGCTAGTCTCATTTTCATTTAATATATCTTCAATGTGAAATAATACAAATTTAAAAAAGCCATATAGACATAAAATGATAAAAAAATGAACAAAAAAAAAACATTTATTTGCAAAGAACATGGATTTAAAAGGGTTATTGAAATGTAAAAGTTACAAGTAACGCTTTTCAGATAAATACTGTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30117
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079705 Essential Splice Site 277 343 8 10
Genomic Location (Zv9):
Chromosome 24 (position 30605887)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 29634978
GRCz11 24 29623129
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCACAACGCCACAAACCTCTACCAGATCTTCATCAAATACAAAGAAAG[G/A]TGACAGATTTGTTCTTCGTATCTCTTTAAGAGTGAAATCTGTCTCATATG
Long Flanking Sequence:
TAGTTACTATGTCCAGTTCCAGTTACTAGTTATGAAATGATGGTGCATTTTTATAACGGTTCAAATCGTCATTTTAATTTTAAATGCATTTTTATGTGCATATTTTTATATATTCATTGTAATTTCCATGATTAAACCATAATAAATTTAGCTTGACACACCAGACATACATCAAATTGCAAACAAAGTGCTTTAGTCATAGCAACTTTCTGTGCTCTGTCTTTTTTTCCCTCCACCCACAGTTCTTTATGAAGCCTCTGGGACAGTCGCTGTCCAGCGTGGAGATCGAAAAAGTGTTCATCAACATACCAGTGAGTTTATGAAGCACAGGCTTTAGCATAAATCCAGCGTATTAGTCCTCGTCGCTTCATATTTTCATATTCTTCATCACATCAGGATCTTGTGAAAGTGCACACGAGTCTCCTGAGGGAAGTGCAGGATTCAGTGCTCATGCACAACGCCACAAACCTCTACCAGATCTTCATCAAATACAAAGAAAG[G/A]TGACAGATTTGTTCTTCGTATCTCTTTAAGAGTGAAATCTGTCTCATATGTGTTTGCTTTACTCTGCTATAGATTAGTCCTGTACGGCAAATACTGCAGTCAAGTGGAATCTGCCATTGCATGTCTGGATGACATCTGTAAGAACAGAGAGGACGTCCGGCAGATGCTAGAGGTGAGATGTTCAAAAAATGATGTGGTAGTGTTTATTTATTATGAAATTTTAAAACTATATGTTTTTTTTAAGGATATTTTAATTGCTGAGAAAACTATTATAATATAATTCTGAAAATTGAATTATTATTCATAACTTATAATTGAATAATTATAACTGAAATAGATGTGGCCGTGTTTATTTGCTGTGAAGCGCTGCCCCCTGGTGGTTGTGAACAGCACTGTTTTGAAACGTTTATTTATTTTTTTGTAAATGTAAAATAATATATGTATAATATACCAGAAATAAAATGTTTATAGAACTGTTTGTATGTTTATATTTACATCAT
Associated Phenotype:
Not determined