ZMP

LOC569090

Ensembl ID:

ENSDARG00000076179

Human Orthologue:

NGEF

Human Description:

neuronal guanine nucleotide exchange factor [Source:HGNC Symbol;Acc:7807]

Mouse Orthologue:

Ngef

Mouse Description:

neuronal guanine nucleotide exchange factor Gene [Source:MGI Symbol;Acc:MGI:1858414]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15674	Essential Splice Site	Available for shipment	Available now
sa22714	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa15674

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
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000111018	Essential Splice Site	105	718	2	15

Genomic Location (Zv9):

Chromosome 15 (position 38726434)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	40242221
GRCz11	15	40089273

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCAGCCCTGCTGCAGCAAACAGAGTCCCACTGTCCCCCAGACTGCAAAAG[T/C]GAGTATTAAAAACACACCAAACACNNNNCTGTCTGTTGTTCAGTCTGTCT

Long Flanking Sequence:

AGCACCGCCAGCATTCACAATGGGCCCTCTGTGTTTATATATGTGTGTGTGTGTTTGATTTGTCTGCATGTGGATATGCGGTAACAAGTGAATGACCAGTATGTTGTTATGCCTGTAATGAAATACTTTCTCTGGCAGACAGATTCATAAACTCAATCGTTTTTAGCCAAACAAGTGGTTTTATCCTGATAGCATATATAATGGGTGCTTCTTCAGATGTATTGTTTTCCTTCTTATGGAAGCATTTTTATACTCTTGTACTGTGTCTGACTGGGACTGTCATGCAGGAGGGATATAGTTCAATTCCATTTTATTTAATTCCACACTCGAGCATGCCCAATATAAATGATGTTTATTCTTTTCTTGGTTAAGCTAAGCCACTCCCATTCTCTCCATTAGGCCCCTCCTCCTCTCCGAAACCAACAGTAGACCCCGCCTCCTACAATAGACTCAGCCCTGCTGCAGCAAACAGAGTCCCACTGTCCCCCAGACTGCAAAAG[T/C]GAGTATTAAAAACACACCAAACACCTGTCTGTCTGTTGTTCAGTCTGTCTGTCCATCACTTTGTCTGTCTGTCTATCCATCTGTCTGTCTTTCTTTTTTTCTATCTCTGCCTATCTGTTAATCTGAATATCTATCTAGCTCTGTCTGTCCGTCTATCTGTCCGTCTGTCAGTCCATTTGTCTGTCTCTATTCGTCTGTCTCTCCGCTTGTCTATCCATCTTTCCATCCATCCATCCATCCATCCGTCTGTCTGTGTCCGTCTGTCCCTCTGTCTGTCTGTCTGTCTGTCTGGCTGTCTGGCTGTCTCTCTCTATCCGTCTGTCTATCTGTCCATCTGTCTGTCTCTGTCAGTCTGTCTGTCTATCCATCCATCTGTCTGTCTGTCTCTCTCTCTATCCGTTTGTCTATCTGTCTGTCTCTGTCGGTCTGTCTGTCTGTCTGTCTATCCATCCATCCATCTGTCTGTCTGTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa22714

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
ENSDART00000111018	Nonsense	364	718	7	15

Genomic Location (Zv9):

Chromosome 15 (position 38746056)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	40261843
GRCz11	15	40108895

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GACATTGTTCATTTCCACGCTGTTAACCACTTCCAAGTCTTTATCAGCTA[T/A]GTCATCAACCAGGTCTACCAGGAGACCAACTACCGGCGGATACTGTAAGA

Long Flanking Sequence:

AATTTGCCTCAACACACTTGCAAGGATGTTTCAAGAAAGATTCACTAGCCCAGGTGTGTCTGATTGGAGTTGGAGCTCAAATCTGCAAGAAACTGGACCCCCAGGACTCCGATTATGAACCCCTGGCTTAGAGTATAAATACATGCGCACATTTTGATTGAGACTTGAGAGGTCTGAACTTTTCTAAGCAATGTGAGACTGAAGAGGCCACAACAATTACTGTATAAACCTTATATATATTTGTGTATTTATCTATTCATCAAGATGCTAACACTATGATGTAAACATAAATTTTAACTGTAATCCTCCTTTTTTTTTTTTTAAAGCTAATTCATTTATTTATCAAGTTACTAGCATAAATACTTACTGAAAACCTCATGTTTTTTTTCCAGGTTTTTGATGGATCTGGAGCATCGGATCGAAGAGTCCATCCTGATCTCAGATGTGTGTGACATTGTTCATTTCCACGCTGTTAACCACTTCCAAGTCTTTATCAGCTA[T/A]GTCATCAACCAGGTCTACCAGGAGACCAACTACCGGCGGATACTGTAAGAACACTTCTTACCTTTGCATATGAAAAATGGGAAATGCTGTGTAATATTGTCTGAGGTCAGATATCCCTATTTCAGTTATGTCTGTCTGTCAAAACAACAATAAAATAACTTATAGACATAACAGTATGAAATGGATGCAGAATGTTTTATTAGTTATTTTGTAAGGTGCTAGAATTCAGCTTAAAGTGCTTTTTTTTTCTTCGATGTTTGACGTAGTCTCATCCAAAACACGATCAGGGTGTGGGACATAGTGTATAGCTCCTCCCCTTTTTAAAAAAACAGCCAATAGTATTTTGTTTCATCACCGCTCTGCCAGTGGGAGTGGTTGAGCTCAATCGCATTAAATAAAAAGCAAGTGTGAAGTGTCTTGAAGGGGGTAGAACATGTCTAGAGAGCATTTGATTGGAAAGATTTGATGAGAAACTGAGGTATAAGGTGACATGAATAAAA

Associated Phenotype:

Not determined