Busch Lab

ZMP

RAPGEF6

Ensembl ID:
ENSDARG00000010945
Description:
Rap guanine nucleotide exchange factor (GEF) 6 [Source:HGNC Symbol;Acc:20655]
Human Orthologue:
RAPGEF6
Human Description:
Rap guanine nucleotide exchange factor (GEF) 6 [Source:HGNC Symbol;Acc:20655]
Mouse Orthologue:
Rapgef6
Mouse Description:
Rap guanine nucleotide exchange factor (GEF) 6 Gene [Source:MGI Symbol;Acc:MGI:2384761]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa8486 Nonsense Mutation detected in F1 DNA Not yet available
sa43729 Nonsense Mutation detected in F1 DNA Not yet available
sa43730 Nonsense Mutation detected in F1 DNA Not yet available
sa14914 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa8486
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
ENSDART00000063714 Nonsense 208 1334 5 28
Genomic Location (Zv9):
Chromosome 21 (position 43775185)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 45044169
GRCz11 21 45068309
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTGTCTCTCTCACACTCTGCTGTCGTGTGTGCAGTTCGTGTGTATCGCG[C/T]AGCAGGATTACTGCCGCATCCTCAATCATGTGGAGCAGAACACACACAAG
Long Flanking Sequence:
CAATAAATCAGTTGTTTAGTCAATCAATCAGTTATTCAATAAAGCAATCAATTGATTAATTAGCCTGTCAGTCAATCAATTAGTCAATTACTCAACCAATCAATCTAACAATCAATTAGTCAATTAATAAACCAATAAATGAACCAATCAATTAGTCTGTTAGTCAATTAATCAATCCATCTACCAGTCAATTAGTCAATTACACAGCCAATCAGTCAGTCGATGTATCCACCTGTGCGCAGCTGGACCTGTGGTATGTGATCCTGAACGGTGCGGTGGAGATCAGCTACAGTGACGGCCGATCAGAGATCCTCTGTATGGGAAACAGCTTTGGCATCACTCCATCACTGGACAGACAACTGATGAGCGGAGCCGTGAGCACCAGAGCAGACGACTGCCAGGTCAGACACACACACACTCTCACACACACACACACACATTCCCACACACACTGTCTCTCTCACACTCTGCTGTCGTGTGTGCAGTTCGTGTGTATCGCG[C/T]AGCAGGATTACTGCCGCATCCTCAATCATGTGGAGCAGAACACACACAAGGTGGAGGAGGAGGGCGAGATCGTGATGGTGAAGGAACACCGAGAGCTGGACCGCAGCGGCACACGCAAGGGACACATCGTCATCAAGGTGAGACTCAGCTGACGACAGGTCAGAGGTCACCTGGAGGAGCTCATACAGGTCAAAGGTCACCTGGAGGAGCTCACTCAGGTCAGAGGTCACCTGGAGGAGCTCATACAGGTCAAAGGTCACCTGGAGGAGCTCACTCAGGTCAAAGGTCACCTGGAGGAGCTCAGAAATGTATTGGATGTTTGACGTATATATGTATGGAGTGTATCATGTGGGAGACGCAGTGGAGTTGTATGTAGCGATGTCGCCACACAGCATGAAGGTCGCTGGTTCGAGTCTCGGCTGGGTCAGCTGGTGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGTGTGGGTTTCCTCCGGGTGCTCCAGTTTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43729
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063714 Nonsense 298 1334 6 28
Genomic Location (Zv9):
Chromosome 21 (position 43778020)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 45041334
GRCz11 21 45065474
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTACCGCACCTTCCTGTCCAGCCCCATGGAGGTGGGAAACAAGCTTCTG[G/T]AGTGGTTCAGAGTCGACGCTCTGAGAGACACGGTCAGTGTGTGTGTGTGT
Long Flanking Sequence:
GCCGCAACCCATCTCTGGGAAACATCCACACACACATTCACACACACACAGTTTAGCCTACCCAATTCACCTGTAGCGCATGTGTTTGGACTGTGGGGGAAACCGGAGCACCCGGAGGAAACCCACGCGAACGCAGGGAGAACATGCAAACTCCACACAGAAACACCAACTGAGCAGAGGATCGAACCTGTGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGTGCTACTGCGTCACCTGTGTGTGTCATTGCTCTGCTGCTGTGTGTGTGTATCAGCACTGTTGTGTTTTGTGTGTGTGTGTGTATCATTTCTCTGCTATTGTGTGTGCATCACTGCGCTTGTGTTTTGTGTGTGTGTGTCAGGGCACGCCGGAGCGTCTGGTCCTGCATCTGGTGGAGGAGCCGTCAGTGGTGGACCCCACATACATTGAGGACTTCCTGCTGATGTACCGCACCTTCCTGTCCAGCCCCATGGAGGTGGGAAACAAGCTTCTG[G/T]AGTGGTTCAGAGTCGACGCTCTGAGAGACACGGTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGCAACAGTCTGAGAGACATGGTCTGTGTGTGTTTATCAGTCTCTTGCAGCTGACGTGCTGTTTCTCGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTTTTGCAGGTGACCCGGATCGTGCTGTTGTGGGTGAACAATCATTTCAATGATTTCGAGGGTGATCCGGTGATGACGCAGTTCCTGGAGGACTTCGAGAAGCTGCTGGACGCCTCGGTCAGTCATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAAACACAGATGTGCTTTATCACTTTTCATTAATGTGCTTTATCACACACGTGCACATGCACATACACACACATACATATGCACACACATGTGCACACAAACACACACATACACATACATGTACACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43730
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
ENSDART00000063714 Nonsense 679 1334 16 28
Genomic Location (Zv9):
Chromosome 21 (position 43783863)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 45035491
GRCz11 21 45059631
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCGCGCTCAGGTACTACCTGAAGAACAACATGGAGACGGAGACGCTGTG[T/A]TCAGACGAGGACGCTCAGGATCTGCTGCGGGAGAGTCAGATCAGCCTGCT
Long Flanking Sequence:
GAGTGAGTTCGGTCTGATCGCCGCCGCTGAGACCTACTCTCTGTGTGAGGTGTCCGTCAGTCCGGAAGGAGTCATCAAACAGCGCAGACTGCCGGACCAGCTGTCTAAACTAGCGGACCGCATACAGCTCAACGGCAGGTCAGCACACACACACACACACACCCTTACTGCAACCATACAGGAGAAACACCACACTCTTACATTCACACACGCGCACACACACACACACACTAATACAAATACACCAAACACATATTAATACAAGACATACATTTCACACACACTCACACACACATATAAACACACACATTATTGCATGAGACATGCCACACACACACACTCACTCACACAAACATTAATACAAGATACACAACACACTTATATTATTTACTTTTTCTATACTGTTTATGTATCTGTGTGCAAACGTGTGTGTGTGTGTGTGTCTGTGTGTGCGCGCTCAGGTACTACCTGAAGAACAACATGGAGACGGAGACGCTGTG[T/A]TCAGACGAGGACGCTCAGGATCTGCTGCGGGAGAGTCAGATCAGCCTGCTGCAGCTCAGCACAGTAGAAGTGGCAGCTCAGCTCTCCATGCGGGACTTCAGCCTGTTCCGGAACATCGAGTCCACCGAGTACGTGGACGACCTGTTCAAGCTGGACCCCGGCGGAGGTGGCGGCGCTGGGCATCTGAAGCAGTTCGAGGAGATCATCAACCAGGAGACCTTCTGGGTGTCCACCGAGATCCTGCGAGAACCCAACGCCATCAAACGCATGAAAACCATCAAGCACTTCATCAAGATCGCACTGCACTGCCGCGAGTGCAAGAACTTCAACTCCATGTTCGCCATCATCAGGTGATCTTACAGGTTTACTCCCGCTGTGTGCTTCTGACTGAAAATTCTGATATACCAAAAATAAAGTAATACCAATAACTATAGATCTGGAGGTTGATAGCCGATATATACCAATAACTATAGATCTGGAGGTTAATAGCTGATATATAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14914
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063714 Essential Splice Site 1095 1334 23 28
Genomic Location (Zv9):
Chromosome 21 (position 43795240)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 45024114
GRCz11 21 45048254
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCTAGAAGCGCGAGTRAAAGCAGCATGTTGAACTGTTTTCTGTCTGC[A/T]GGTTACGCCYTGATGCCCGCGGGTCGCTCTGATCTGTCAGACTCCAGCGA
Long Flanking Sequence:
TGACATTAATGTTAGGCTATATGTAGACACATCCGCTGTTTTACAAGAAAAGTGTCTTGTGGATAGTTCTGCTGCTCTAGATCTGCCGGTTTTGTTCTTGAGTAGACTGATTAATGCATTATTATAGACGTGTTTATGCATTCACAGTGGTATAACCTATTATATGTCCATCCATTTTTATAATTATTAGGATTATTAATTAAGATACAGATCAGAGCAAACCATTTTACTCTATTTAAAGGCATGTGGTTTTAACGTCTGCCAATAATCTGCCAATGAGGGAAGCAGAATAATGTTATTTTAAAGCGAAAACATGATCATTCTGCTTCCCCATTGGCTGAGTATTTAGCTTGTTTTGAGGAGAAACTCATTATATCTGAGAAACATTATATCTGCAGCATGTTTTGCAGCTCTAGAAAATGTCTTGTGATGTCAGGATTTGTAGATATTTGTTCTAGAAGCGCGAGTGAAAGCAGCATGTTGAACTGTTTTCTGTCTGC[A/T]GGTTACGCCCTGATGCCCGCGGGTCGCTCTGATCTGTCAGACTCCAGCGAGATCTCGTCCCGCTCCAGCATCGTCAGCAACTGTTCTGTGGATTCGGGACTCACAGCGGCCCCCGCCAGCGTCCCGGCAGAGACACACACACTCACACACACTCCAGCAGACTGCAGGTACACTCACACACCATCATCACACTGTCATGACGGCCTTTGTCTTTAAGTCTAAGTTGTCTGCCAGCATTTTTGATGACTTTCAGCTCAATTAATTAGAAATACAGGAGGAATACAGAAAGACCGGGAGAGGAGTGTGTCCTTCAGGTGGTTTGTCAAGCCCACTCATTTGTGTGGAGCACACTCATGCATCATACGGTTATGTGCTGCGCCGTGTGTTTGCTTTACTAAAAACATCGGTCTTCAATCTAGTGTTGAACTGAGAGAGTGTGTCTGAGCCTCGGACATTATCAGGAAGGCTATTCCAGAGTTTAGGAGCCATAAATGAGAAGG
Associated Phenotype:
Not determined