Busch Lab

ZMP

LOC100329945

Ensembl ID:
ENSDARG00000005482
Human Orthologue:
RAPGEF2
Human Description:
Rap guanine nucleotide exchange factor (GEF) 2 [Source:HGNC Symbol;Acc:16854]
Mouse Orthologue:
Rapgef2
Mouse Description:
Rap guanine nucleotide exchange factor (GEF) 2 Gene [Source:MGI Symbol;Acc:MGI:2659071]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa22552 Essential Splice Site Available for shipment Available now
sa42451 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39015 Nonsense Mutation detected in F1 DNA Not yet available
sa42450 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa22552
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003826 Essential Splice Site 176 1601 7 29
Genomic Location (Zv9):
Chromosome 14 (position 50796508)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 48873754
GRCz11 14 47862910
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAGGTCAGATATGAATCTTGACACACAGTTTTGTCTGTCTCCTCATGC[A/G]GCTGCCGGCAGACTTCAGCAGGTTACACCTGGCAGACGGGATTCACCCTC
Long Flanking Sequence:
TGGTTTGTGCTTTTAGATTATATACAGTTGAAGTCAAAATATTTTTTTCCCAGGTATACTTCCCAAATAATGTTAAACTGAGCAAGGAATTTTAACAGTATTTCCTATAATTTTTTTCTTCTGCAGAAAGTCCTAATTATTTTATTTCGGCTAGAATAAAAGCCGTTTTTAATTGTTTTAAACCTATTTTAGGGTCAATGTTATTAGCTTCCTCATGCAATGTTTGTTTTCGATTGTCTACAGAACAACCCACTGTTATAAATTGACTTGCCTAATTGCCCTAACCTGCCTAATTAACTTAACCTAGTCAAGCCTTTAAATTGCTGAATACTAGTAATTGAATAATACTAGTACTCTACAAAAGTATCTAGTTAAGTATTATGTACTGTCATCATCTGCTGAATGAACAGATATGGCACTGATTGACTGTCATGCTTGTTAGATGCTTTCATAAGGTCAGATATGAATCTTGACACACAGTTTTGTCTGTCTCCTCATGC[A/G]GCTGCCGGCAGACTTCAGCAGGTTACACCTGGCAGACGGGATTCACCCTCAGGTGACACACGTGTCCTCCAGTCATTCAGGATGTAGCATCACCAGTGACTCTGGAAGCAGCAGCCTGTCGGACATTTACCAGGTAACTACAGTCGCCTTATAGTGGGATGTTTTTGACAGCTTCAGTGTCATGTGACTTCAATGATTGTTTTCATACACATACTTTAGGCACCAAATTCTTAAATGGAAAGCTTAAATTATTACAATTTAATCGAATAAAATAAACTAAAACCACTTTAAAGATGCATAAAACTTTTAAATACAGTGGTGTTTGCCCCCTTACTGTTTTTATTGCTGAGGAGGATCCGGTCGATGGTTAAACTTAGGATCCAGGAGGAACAATGCTGTTTTCATCCAGGCTGTGGTACACTCGACCAGCTCTACACCCTCATCAGGGTGCTCGAGGGTTCATGGGAGCATGCACAACAGCCCACAAGTGTTTTGTGGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42451
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003826 Essential Splice Site 519 1601 13 29
Genomic Location (Zv9):
Chromosome 14 (position 50765843)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 48843089
GRCz11 14 47832245
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCAATGACACATTTTCTGGAGGAGTTCGAGTACAATCTGGAGAGAGAGG[T/C]CAGTCCTTTTCTTAATGATCTACTGAGTATAGAGCCAAAGACTATAGAAT
Long Flanking Sequence:
CACACACACACACAAACATGCACAGACATAAACAAGCATGCATATAAACACTAACACACACAAACAAACACACAGACTAACACGCACAAACAAAAACATGCACACAGACACACACACACAAACCTGCACAAACACAAACAAACATGCAGATACGCAAATGCACACAAACAAACACAGACGCACACACAAATACACAAACAAAATACACAAAACAAAATACACAAACACAAACACAAATAAACAACCATGCACACACCAACACGCACACACATAAACACTAGCAAACATGTTCACGCACAAACAAACACCCATACAGACACACACACACACACACACACACAGCTCCGCATCTCTTATCAGTAAGGCTTGACATGAGCTGATGTTTCCTCAGGTTACACGGGTAGTCTTGCTGTGGGTGAACAATCACTTTAATGACTTTGAGGGCGACCCTGCAATGACACATTTTCTGGAGGAGTTCGAGTACAATCTGGAGAGAGAGG[T/C]CAGTCCTTTTCTTAATGATCTACTGAGTATAGAGCCAAAGACTATAGAATACTTCTTAAAGGGCCTTTGATAGAGCCCTGTGACTTCAGTTCAGTACAGTTATAAAAACAAAAGTGGAATCTCAAAGATAGATAGCTGTATGATTCAGAATTTTACAGTACAGTGCACTTCTCTAAATATTCATTTTATATATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATTTATTTATACAACAGTTCTGTCTGGTTCTTAAATATGATTGGCTGATAGACGTGTGATATTCTGCAATATTAGAACTCCTACAGCCTCTTTACCCTTTGTGTATTACTCCGCCCACATTAAGCCAGCAAAAAGCAGACACTACAGATCTAAAGTTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39015
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003826 Nonsense 1040 1601 20 29
Genomic Location (Zv9):
Chromosome 14 (position 50749068)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 48826314
GRCz11 14 47815470
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAACAGCCAGAACCTGCAGCCCCCTATCATCCCACTCTTCCCCGTAATC[A/T]AGAAGGATCTCACTTTCCTGCATGAAGGTAAGGCAGTTTTTAGGGATGCA
Long Flanking Sequence:
TACACTGTTGACCATCCCTTACACCTTAACCCACCCTTAAACCTACCCATACCACCAAACCTGTCCATAACCCAACCTCTATCCCAACTCAAACGCACTACGTGTTCTCAAATACATTATAAACACAGTAAGTACATTGTATTTATTTTTTTGATGTAAGTACATAGTAGTTAAGGACACTTAATATAAAGTGGGTCTCATGATAGCACCATATGCCATGAAAAAAAAAAACTTCAACAATTATTTTCAACAAGACATTTTGAAGCCATAATTTTGGGTTAAAATTTTGAGAAGCTTATAACTTTGTGTTTTCCAGTGGTCTGAACTTGGCACCAGTGTCCAGGCTGAGAGGCACATGGGAGAAGCTGCCCAGCAAATACGAGAAGCTGTTTAGCGATCTTCAAGACCTCTTCGATCCCTCCAGGAATATGGCCAAGTATCGCAACCTTCTAAACAGCCAGAACCTGCAGCCCCCTATCATCCCACTCTTCCCCGTAATC[A/T]AGAAGGATCTCACTTTCCTGCATGAAGGTAAGGCAGTTTTTAGGGATGCATCGATATGAAATTTTGGCCTGATAACTTTATTTGGAAGCCGAAAATCAAATACACGGGCTGATAAATGCAAACCTTGGTATAAATTTTCATATACACTCAGCTAATTGGTTTATTTTAAAATCTTAAGTGCAAAAACAAGGAAAAAAATCTAATTCAATATTAAAGAAATCTAATAAAACTGGTTAATTAAATATTAAATGTTCACAAAATCATTTATATTTTGCAGTCCAGTTTTTCTTTTTCACAGTGAGAAACTCCCACACTCCCAACATCTTCTCTCTAGCATAAACTCTTCAAATTATGCATCTTCTGCATGGACCAATCAGAGAAAATAATCCGTAATTTATTGGTCAATATATTTGTTTTATTGTAGCGGGCCGATATAACAATAAAATAAGTGTTTATCAGGTGATACCAATACATCCTGCTTGTATGCGCTGACATATATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42450
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
ENSDART00000003826 Nonsense 1573 1601 28 29
Genomic Location (Zv9):
Chromosome 14 (position 50723526)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 48800772
GRCz11 14 47789928
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCCGCAGGGAAACCGGACCCCCGGGGCCGAGAGGAGGACGAGGCAGTG[G/T]AGGTGGAGGAGGAGGGTGAGTGCTTGTCTCCCAAACTCAGAGCTCAGAGG
Long Flanking Sequence:
TATTTAGCGGATTGTATTTTATTTACAATACAACATCAATACTGTAAAAGAAACCGTATGTAATATAGCAAAAATAGCCACATTATCCTTTCAGCGGAAGTGTTTCGGTAGGGGGAAAAAAACACTAGCTGTGCGTATACCCCATTATTCCACAACAAGATGAAACGGCACAACAAGCCATCCAACTCACACTGATCTAGTGCATGCATCCGCCGGCATTTCCGAGAAGCATTTGGGATATTAAACAGAGCTGTGGTGTCCATCTCCTCCCTCCAGCACGGAAGGACGGCCGCTATCGGGACCCTCCACCAACGCCGCCGGGTTACACCGCGCTGACCATCACAGATGTGACCGAGGGAACGCCACATTCGGGCAGGAAACCACCAGACTACACCACCGCCCTGCAGCGCTCGCGCCTCGTCACACACTCCCTCGACTCCCAGCAGCCCCCAGCCGCAGGGAAACCGGACCCCCGGGGCCGAGAGGAGGACGAGGCAGTG[G/T]AGGTGGAGGAGGAGGGTGAGTGCTTGTCTCCCAAACTCAGAGCTCAGAGGAGGAGAGGTCCACACACAGCAGTTCCCCCCAGGCCATGAGTTACATACACCACCCCGACAGGAAGGTAAAACATCATAAACTCCAGTTCCACCCGCACACGCACTGAGCACGTTTACATGCACACCGCTATTCAGCTAAACCGGCTGTTTGACATGACCTGTTGTATTGGGCTATATGCAAACCCGCCAATACATGTAATCCGCGCTGATATGATCGGGTTAGTATAGCTTTACATCTCAGGGATGTGACATCAAAACTTTTAAGGTAAACTTTAATACAAATATCCAAATTCAAGTCAAGTTTATTTGTATTGCGCTTTTCACAATAATAATTGTTCCAAAGCAGCTTTACTAAATGTGTGTGTTATTACATAGCAGTCAAAACCAGAAAAGCCTAAGGTGTAAGTATGGTGGACAGTACTGCTGTCAAATGTTTACACGGAGGACAAG
Associated Phenotype:
Not determined