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

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