Busch Lab

ZMP

RAPGEFL1

Ensembl ID:
ENSDARG00000079912
Description:
Rap guanine nucleotide exchange factor (GEF)-like 1 [Source:HGNC Symbol;Acc:17428]
Human Orthologue:
RAPGEFL1
Human Description:
Rap guanine nucleotide exchange factor (GEF)-like 1 [Source:HGNC Symbol;Acc:17428]
Mouse Orthologue:
Rapgefl1
Mouse Description:
Rap guanine nucleotide exchange factor (GEF)-like 1 Gene [Source:MGI Symbol;Acc:MGI:3611446]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa31324 Essential Splice Site Available for shipment Available now
sa19993 Nonsense Available for shipment Available now
sa40059 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa31324
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114723 Essential Splice Site 275 621 6 15
Genomic Location (Zv9):
Chromosome 3 (position 23648590)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 23226801
GRCz11 3 23357349
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAATTAACCTGTGTCAAATAGAAGCATTAAGTGTTTGTCCCATGTTTAA[G/A]TCTTTTGCAGGGTTTACACGCCAGATCATTCATACGTTACCATACGAAGC
Long Flanking Sequence:
CCAAAGCAGAAACAGTGACCATCTGTGAAGTGATGTCAAATGACATCTAAAATGAGTCTCACTGAAGTGAGGATTCTTCAATCTGCCCTGAGTTCACAGGTTTGATGTCCAACTTCTAAAGCATCATTCTAAACATTAAGTTAATGTAGGTTAAATCCCAATACTGAGCTGTCTGGAATGCAGCATAAATGCACTGCACTAGCGCATGTCTTTGGACTGTGATGGAAACCGGAGCACCCGGAGGAAACCCATATAAAAATGGGGAGAACATGCAAACTTCACACAGAAATGCCAACTGACCCAGCCGGGGCTCAAACCAGCAACCTTCTTACTGTGAGGCGACATCGCTACCCACTGCACCACCATGCTGCCCATGTTAAGAATATTTTTTTTGTTTTACATGTAAAACTATTCTTTTAAAGCTTATTGACCACCTGAATTTTGAACATGCAAATTAACCTGTGTCAAATAGAAGCATTAAGTGTTTGTCCCATGTTTAA[G/A]TCTTTTGCAGGGTTTACACGCCAGATCATTCATACGTTACCATACGAAGCCGTCTTTCATGCCGGGTTGGGGAGATCTTGGCTTTGGTGAAAGAGAAGCTCCAGTACAGCGAGGACCAGCCAACCCAACCTGCCAACCTCATACTGGTGGCTGTCACCTCATCAGGGGGTAAGAGCATTAAAGATTGCTCCTTGCAAACTAAAGGCCAGTTTAAACCTGGTATTATGAGGCATTTTGTCGATCTTTTTACAAGTAGATTGTGTTTAATAATTCACCCAAAAAATGTAATATTTGATAATGTAAAAAAAAATCAACATTCTTCAAAATATCTTAATTTTCGGTTCTCTATAAACTTTAAAAACTTTCAAACACTCAAAGAAAAATATTTTTTTGTTTTTACTTTTAAAATACTGTAGTTGTGAAACGTTTTGAGCTTTTGACCGCTTCCAGAGGTATTCGAAAACATTTTAATATGATCACTTGCGTAAAGTAAATGCTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19993
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
ENSDART00000114723 Nonsense 303 621 6 15
Genomic Location (Zv9):
Chromosome 3 (position 23648505)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 23226716
GRCz11 3 23357264
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTACCATACGAAGCCGTCTTTCATGCCGGGTTGGGGAGATCTTGGCTT[T/A]GGTGAAAGAGAAGCTCCAGTACAGCGAGGACCAGCCAACCCAACCTGCCA
Long Flanking Sequence:
CCCTGAGTTCACAGGTTTGATGTCCAACTTCTAAAGCATCATTCTAAACATTAAGTTAATGTAGGTTAAATCCCAATACTGAGCTGTCTGGAATGCAGCATAAATGCACTGCACTAGCGCATGTCTTTGGACTGTGATGGAAACCGGAGCACCCGGAGGAAACCCATATAAAAATGGGGAGAACATGCAAACTTCACACAGAAATGCCAACTGACCCAGCCGGGGCTCAAACCAGCAACCTTCTTACTGTGAGGCGACATCGCTACCCACTGCACCACCATGCTGCCCATGTTAAGAATATTTTTTTTGTTTTACATGTAAAACTATTCTTTTAAAGCTTATTGACCACCTGAATTTTGAACATGCAAATTAACCTGTGTCAAATAGAAGCATTAAGTGTTTGTCCCATGTTTAAGTCTTTTGCAGGGTTTACACGCCAGATCATTCATACGTTACCATACGAAGCCGTCTTTCATGCCGGGTTGGGGAGATCTTGGCTT[T/A]GGTGAAAGAGAAGCTCCAGTACAGCGAGGACCAGCCAACCCAACCTGCCAACCTCATACTGGTGGCTGTCACCTCATCAGGGGGTAAGAGCATTAAAGATTGCTCCTTGCAAACTAAAGGCCAGTTTAAACCTGGTATTATGAGGCATTTTGTCGATCTTTTTACAAGTAGATTGTGTTTAATAATTCACCCAAAAAATGTAATATTTGATAATGTAAAAAAAAATCAACATTCTTCAAAATATCTTAATTTTCGGTTCTCTATAAACTTTAAAAACTTTCAAACACTCAAAGAAAAATATTTTTTTGTTTTTACTTTTAAAATACTGTAGTTGTGAAACGTTTTGAGCTTTTGACCGCTTCCAGAGGTATTCGAAAACATTTTAATATGATCACTTGCGTAAAGTAAATGCTCATGTGGCTGAATGCATTTGAACACCAGCTACACTCCATCCACTGACCTAATTCTTAAACATTTCAGGACATGTTGTTTAAGTGTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40059
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
ENSDART00000114723 Nonsense 416 621 9 15
Genomic Location (Zv9):
Chromosome 3 (position 23643274)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 23221485
GRCz11 3 23352033
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTTTTGTTTGAACAGGTGGAGTTTGTGTGCTACGTGTTTCACGGTGAG[C/T]AGGCTCGCTGGCGCCCCCTAAACCTGGAGCTGATCTTGCAGCGCTGCAGT
Long Flanking Sequence:
GACACATTATCATGTGAAAATGTCCTTGCTTTGTTAAACATCATTTGAGGAATATTTAAATAAGAAAAAAAATTCAAAGGGAAATAATTCTGACTTCAACTGTATATTTGCTTAAAACACAAAATAAAGTCAAAAATAAGTAAACTTAAAAAATATACAACTAATACAAGAAATGAATGCAAACAATAAGAAAAAAAAACACTGAAGTACATATAAAATTCAAAATATATTATTATGCCAATAATAATAATAATAATAATAATAATAATAATCAAAGATCATGTACATATATCTCAAAGACAAACAGATGCTACTGTTCAACAGTAGTAGTTTTCCATTGCAATCAGTTGTGTGCCCTAGGAAACGGGTTTAAGTTCAAGGCTACTCTCATAGCGAAGTTCATATAAAACAACAGACCTTTACAGGCCGTTATGCAATGTTTCCCCTCTGTGCTTTTGTTTGAACAGGTGGAGTTTGTGTGCTACGTGTTTCACGGTGAG[C/T]AGGCTCGCTGGCGCCCCCTAAACCTGGAGCTGATCTTGCAGCGCTGCAGTGAAGTCCAGCACTGGGTCGCCACCGAGATCCTGCAGTGCCAGTCACTGCCCAAGAGGATACAACTGCTGCGCAAGTTCATCAAGATCGCAGCCTTGTGAGTTTTCTGCACAGGACATTTATGGCCTTCTCTGTTACATTCCAATAAACTGAAACAAATCCTTTGAAGGGATAGTTCACCCAAAAATAAACACTAGCTCATCATCTACTCACTTCTTTCAAACCTATTTGAGTTTATTTCTACTGTTGAAGACAAAAGAAGATATTTTGAAGAATGCTGTTTGCTGGCACCCACTGACTTACATAGTATTTTTTTTATCTTACTTTGTAATTTCAACTTAAATTTGGATAAAAAATGGACAAACCCAAATGTTTGGTTAAATTAGGCCTAGAAGTTTAATCAAATAAATTAACTCAGCTGTATGTTTTGTTCATATTTTACTCAAATTTGG
Associated Phenotype:
Not determined