Busch Lab

ZMP

arhgef3l

Ensembl ID:
ENSDARG00000037554
ZFIN ID:
ZDB-GENE-050522-85
Description:
Rho guanine nucleotide exchange factor (GEF) 3, like [Source:RefSeq peptide;Acc:NP_001018563]
Human Orthologue:
ARHGEF3
Human Description:
Rho guanine nucleotide exchange factor (GEF) 3 [Source:HGNC Symbol;Acc:683]
Mouse Orthologue:
Arhgef3
Mouse Description:
Rho guanine nucleotide exchange factor (GEF) 3 Gene [Source:MGI Symbol;Acc:MGI:1918954]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa7504 Missense, Splice Site Mutation detected in F1 DNA Not yet available
sa45000 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7504
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:
Missense, Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054686 Missense, Splice Site 85 506 5 12
ENSDART00000127445 Missense, Splice Site 111 532 6 13
ENSDART00000138936 Missense, Splice Site 90 511 5 12
Genomic Location (Zv9):
Chromosome 23 (position 20963885)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20748992
GRCz11 23 20675335
KASP Assay ID:
554-4283.1 (used for ordering genotyping assays)
KASP Sequence:
TATTTGTGTTACATTTGTGTRTGTGTTTGTGCTTGGATTTTACTCCTCAG[C/T]GTTCTATCAGTTTCCGRACAGAGGCCCGGCCATTGCCTCCAATGCCAAGA
Long Flanking Sequence:
TGTGCTGTCAAACGAATAAAGATCTTTTCTTAATTTGCTGGTGTTTTTTGCAATCAGCCACCATAAAAAATATATTCAAAATATTAAAATATTAATTAGTATTTAAAAACATTATATGTATAAACTGAAATATATAATAAGGTATAAAATACCATGCTTACATCAACATAACGTAACCTAACACAACACAACACAACACAGCATAACGTAACGTAACATAACGTAAATATATGTTATGTATAATTAAATATGATGAAGACCTCTAGTGAGTCCCAGTTGGTGTACTTCTATGCTGTTTTTTTTTTTGTATAAAAAATGCAAATATTGAATTGATACAGACAAACCCAAAAAGAAACATATATATATTTAAATACCCAGATATTTCATTTAACAAAAACAAACAAAAAAAGTGTGCATAGTCTGTGAGTGTGTGTTGTGTCATTTGTGATATATTTGTGTTACATTTGTGTATGTGTTTGTGCTTGGATTTTACTCCTCAG[C/T]GTTCTATCAGTTTCCGAACAGAGGCCCGGCCATTGCCTCCAATGCCAAGATCCCGTCAAAAGGCTTCTTCATTCCCTCGACGGCGGAGCAGTCAGCTGTGGAGTGACACGGTGGACAACATGAGCCATGAGCTCAGCACTAAAGAGATCAAACGACAAGAGGTGTGATAACAGCGTTAGATTAATGCCACAACACAGACTAATGTGTCAAAGTCAATTCTTTATTTTGTGCATTTTGTAATTCTAAATTACCTTACAGATTATATTTATCATATTTGGCCTTTAATTACGAGCATCAAACTAGTAACTTTGGCCCATGCACCTTTAAATTCTTTTAAAAAAGCTTTCTGTCTTTACAACCGTAGTTGTGAAACAGGAAGTGAGCTGGTATACGAGGCCATGTTCTCTATTTCAGTGTCAGTATTTCCTCTGAAACACAAGCTCTACCACACAGCACTGCCAAACTGACTGGTAACTTGTGACAGTAGTGCAGTTATAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45000
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
ENSDART00000054686 Essential Splice Site 159 506 6 12
ENSDART00000127445 Essential Splice Site 185 532 7 13
ENSDART00000138936 Essential Splice Site 164 511 6 12
Genomic Location (Zv9):
Chromosome 23 (position 20964559)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20749666
GRCz11 23 20676009
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCCAGGGTGAGAAACAGCTCATAGAGGATCTAAGCCTCGTAAAAAAGG[T/A]TCGTCCAGGAGTTCAGCTGATTTATTTATTTCTACTGTCCTAAATGAGAA
Long Flanking Sequence:
CGTTAGATTAATGCCACAACACAGACTAATGTGTCAAAGTCAATTCTTTATTTTGTGCATTTTGTAATTCTAAATTACCTTACAGATTATATTTATCATATTTGGCCTTTAATTACGAGCATCAAACTAGTAACTTTGGCCCATGCACCTTTAAATTCTTTTAAAAAAGCTTTCTGTCTTTACAACCGTAGTTGTGAAACAGGAAGTGAGCTGGTATACGAGGCCATGTTCTCTATTTCAGTGTCAGTATTTCCTCTGAAACACAAGCTCTACCACACAGCACTGCCAAACTGACTGGTAACTTGTGACAGTAGTGCAGTTATAAATGTGTGTGTATGCATGTTTGCGGTCTTCCTGCACAAGGTTTCATAAGGTTACAACTACCTGTGCACATTTTCCTGTGCATTAATGTAATATTTATTCTCTTCATCTCCAGGTAATCTACGAATTAACCCAGGGTGAGAAACAGCTCATAGAGGATCTAAGCCTCGTAAAAAAGG[T/A]TCGTCCAGGAGTTCAGCTGATTTATTTATTTCTACTGTCCTAAATGAGAAGGATTTTAATTTGGACTGTTCTCTCAGGTGTACTATGAGCCTATGCTGAAGTTAGACATCATGACAGAAAGTGAGCTGGGACAGATATTCGGGACGCTTGATTCTTTAATTCCCCTTCATGAAGGTAAATGTTTCTTTGAGAATGTTTCTTCATTTATTCACTAAGGCCTTCTTTCAGATGTACATAACAAATTTTTAATTAGATACCCAAGTCTCGCAGTCATTGACTTTCACTGGAATTGTGTCATTTAACAGACCCTTGTTGATAAAACTAGGTTAAATACTGGGCTTTTATAGCTATAAGAACCAGCAGATCAAATTATCCTAATGTGTTTATTTTCATGAAACTTAAATTTCCTTATTATGGTGGGCATATCCTTTATTTTCACATCCCAATGTTGACAGGTATGATTGTTCAACCATGACACATACCTACTAGAGACATTAATC
Associated Phenotype:
Not determined