Busch Lab

ZMP

rabgef1

Ensembl ID:
ENSDARG00000014430
ZFIN ID:
ZDB-GENE-040426-1486
Description:
rab5 GDP/GTP exchange factor [Source:RefSeq peptide;Acc:NP_957137]
Human Orthologues:
KCTD7, RABGEF1
Human Descriptions:
RAB guanine nucleotide exchange factor (GEF) 1 [Source:HGNC Symbol;Acc:17676]
potassium channel tetramerisation domain containing 7 [Source:HGNC Symbol;Acc:21957]
Mouse Orthologue:
Rabgef1
Mouse Description:
RAB guanine nucleotide exchange factor (GEF) 1 Gene [Source:MGI Symbol;Acc:MGI:1929459]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa21763 Nonsense Available for shipment Available now
sa9546 Nonsense Available for shipment Available now
sa10271 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa21763
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018977 Nonsense 43 502 1 8
ENSDART00000099827 Nonsense 43 218 2 4
ENSDART00000133421 Nonsense 49 212 1 4
ENSDART00000138243 Nonsense 43 502 2 9
Genomic Location (Zv9):
Chromosome 10 (position 33831997)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 32933346
GRCz11 10 32877206
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCAATGCTGCCTGGCAGGGCCTGTGCTCCAAGTGCTGGAGGGACGAATA[T/A]CAGAAAGCTCGGCAGAGGCAGATCCAGGATGACTGGGCTCTGGCAGAGAA
Long Flanking Sequence:
TACATTTGAACAGATGTCATTTCTGAAAATGAATCAAAAACAGACTTCCAAAAAGGAAACAAGGTCCAAAACGTGAACTAGATTTGCAGGTTCAGCATGACATATGTCACAGTTTGGATCAATAGCTGGGAACATGCAAGCCAGTTTACACTTAAACCAGTAAACTCTGTGGACTACTTTGCACTGTAGAATCTCATGACGAGCACATACAGATGATATATGGACCTTTTGTAACTAAATTGAATATTCTTAAAAGGCATTCTGAGTTTAAATAATGAATAATTATTCCCTTTAAATTGAAGTGTGCACAATAACAGTATCATGCATGCTCATTATTACTCTTATTGTCTTTACCTAGACACAAAGGATACAATGAGTCAGCGCTCGGAGAGACGGGGGATCCATGTGGACCAATCAGAACTGCTGTGTAAGAAAGGCTGTGGTTATTATGGCAATGCTGCCTGGCAGGGCCTGTGCTCCAAGTGCTGGAGGGACGAATA[T/A]CAGAAAGCTCGGCAGAGGCAGATCCAGGATGACTGGGCTCTGGCAGAGAAGTGAGTCATTCTCGTGGCTTATTTAAAGGGATAGTTCACACAAAAACTATTATTTACTCATCAATAACACACCTTCAAGTAGTTTCAAACCTTTATCCTGCTTCTTTATCTTTTGAAAACAAAAGAAGATATTTTGAAAAATGTTAGAAATCTGTAACCATTGACTTCAATAGTAGGAAAAAGCTATTTTATGGAGGTAAGTGGTTACAGACCTCCAACATTTTTCAGAATTGTTTCTGTTTTAGTGAAACTTGTGACAAGTGAAGGGTGGGGAAATGGTGACTATCCTTTTAATGCTCATGAAGATCAAATTAAACTGTAGTGGTTTTGGTAGTTCACACAGTTAGAAGGCACCACAGGTAAAGAGAGTAAAAATGAACTAGTAGGTATCACTATACTTTTCCAGTTGTTTGATTTAATTAAGGATTGTAAATATGTTCTTGTAAGTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9546
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018977 Nonsense 484 502 8 8
ENSDART00000099827 Nonsense 200 218 4 4
ENSDART00000133421 None None 212 None 4
ENSDART00000138243 Nonsense 484 502 9 9
ENSDART00000018977 Nonsense 484 502 8 8
ENSDART00000099827 Nonsense 200 218 4 4
ENSDART00000133421 None None 212 None 4
ENSDART00000138243 Nonsense 484 502 9 9
Genomic Location (Zv9):
Chromosome 10 (position 33813480)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 32914829
GRCz11 10 32858689
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGCGATACCCGCTGGACATCAAACCAYGCGCATCAGCGATCGATGCC[G/T]AAAACGTGGAGAACGACAGGCTGCCACCTCCACTTCAGCCACAAGTSTTT
Long Flanking Sequence:
TGTTATTTTTGTCAGTGTGTGTGCACATCTACATTTATTGTTATATTTATATTTAAAGTTATTGTGCTTTTTGTAAAAGTCTTTTAAGTATATTTTAATTTAGTCTTTTTTTTTTTTTCTCGGATGTATCAGTTTTCTTATCATTCATTTCCCTACAGTGCTGTGCCGTTGCCTTCATAGAGAAGCTGGACGCCCAGTCATTAAATCTCAGCCCTGAGGATTTTGAGCGCTACATGTCAGGCCAGGCTTCTCCTCGAAGGCAAGACGATCCGGCAGGCTGGCCCCAAAGTGGCTCTCGTGTAAATCCAGTGCTCACTCAGATCCAACACAACCTCAGTGTCCTGTCCAGCCTGGAGAAAAGACAGCAGCAGGTCATCGAGGGGGCGCAGAGCCTGGAGGCGGAGCTGACCGAATGGCAGGAGAGCGTGGCCCGCGAGGTGCAGGAGATCCTGGAGCGATACCCGCTGGACATCAAACCACGCGCATCAGCGATCGATGCC[G/T]AAAACGTGGAGAACGACAGGCTGCCACCTCCACTTCAGCCACAAGTCTTTGCAGGTTAGCGTAGCATCATGTTCTGAGACGGGAAAAGCATGTTTCAAAACGCAACGGCTGCTCTCGAAACAAAATCTCCGCACTTACCATTCCATCTGCTTTATTTTAATGCTTATACAGTCGGCTGTTACGTATTTTATGCAAATGTATTCTTGTCACATTTGTGCAGCTGATCAAAAAAGGGCGAGAGTTCGGGAAGCTATAAAATATTTCTAGTCTAACTTTGATTTGATCTACCATTTTAAATCTTCAAGATAGCTGCTAATACGTCCTCTTAAATGGATAGTTCTCACCAAATTGAGATGTCGCTGTTCATTTAGTAATTCTCAGGCCATTTAAGATGTACAAAAGTTGAAAATTAAAGATTTGTTTGGTGAAACTGGGGTATTTGTGGATTCAGAAAATGCAAAGCAATGGTGATTAGCACTTTGAGAGTCAAAACAAATACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10271
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018977 Nonsense 484 502 8 8
ENSDART00000099827 Nonsense 200 218 4 4
ENSDART00000133421 None None 212 None 4
ENSDART00000138243 Nonsense 484 502 9 9
ENSDART00000018977 Nonsense 484 502 8 8
ENSDART00000099827 Nonsense 200 218 4 4
ENSDART00000133421 None None 212 None 4
ENSDART00000138243 Nonsense 484 502 9 9
Genomic Location (Zv9):
Chromosome 10 (position 33813480)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 32914829
GRCz11 10 32858689
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGCGATACCCGCTGGACATCAAACCAYGCGCATCAGCGATCGATGCC[G/T]AAAACGTGGAGAACGACAGGCTGCCACCTCCACTTCAGCCACAAGTSTTT
Long Flanking Sequence:
TGTTATTTTTGTCAGTGTGTGTGCACATCTACATTTATTGTTATATTTATATTTAAAGTTATTGTGCTTTTTGTAAAAGTCTTTTAAGTATATTTTAATTTAGTCTTTTTTTTTTTTTCTCGGATGTATCAGTTTTCTTATCATTCATTTCCCTACAGTGCTGTGCCGTTGCCTTCATAGAGAAGCTGGACGCCCAGTCATTAAATCTCAGCCCTGAGGATTTTGAGCGCTACATGTCAGGCCAGGCTTCTCCTCGAAGGCAAGACGATCCGGCAGGCTGGCCCCAAAGTGGCTCTCGTGTAAATCCAGTGCTCACTCAGATCCAACACAACCTCAGTGTCCTGTCCAGCCTGGAGAAAAGACAGCAGCAGGTCATCGAGGGGGCGCAGAGCCTGGAGGCGGAGCTGACCGAATGGCAGGAGAGCGTGGCCCGCGAGGTGCAGGAGATCCTGGAGCGATACCCGCTGGACATCAAACCACGCGCATCAGCGATCGATGCC[G/T]AAAACGTGGAGAACGACAGGCTGCCACCTCCACTTCAGCCACAAGTCTTTGCAGGTTAGCGTAGCATCATGTTCTGAGACGGGAAAAGCATGTTTCAAAACGCAACGGCTGCTCTCGAAACAAAATCTCCGCACTTACCATTCCATCTGCTTTATTTTAATGCTTATACAGTCGGCTGTTACGTATTTTATGCAAATGTATTCTTGTCACATTTGTGCAGCTGATCAAAAAAGGGCGAGAGTTCGGGAAGCTATAAAATATTTCTAGTCTAACTTTGATTTGATCTACCATTTTAAATCTTCAAGATAGCTGCTAATACGTCCTCTTAAATGGATAGTTCTCACCAAATTGAGATGTCGCTGTTCATTTAGTAATTCTCAGGCCATTTAAGATGTACAAAAGTTGAAAATTAAAGATTTGTTTGGTGAAACTGGGGTATTTGTGGATTCAGAAAATGCAAAGCAATGGTGATTAGCACTTTGAGAGTCAAAACAAATACA
Associated Phenotype:
Not determined