ZMP
LOC569090
Ensembl ID:
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 |
sa42610 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa8969 | Nonsense | Mutation detected in F1 DNA | Not yet available |
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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
Mutation Details
Allele Name:
sa42610
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000111018 | Nonsense | 504 | 718 | 11 | 15 |
Genomic Location (Zv9):
Chromosome 15 (position 38759745)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 40275532 |
GRCz11 | 15 | 40122584 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTCCTGAAGAAGGGTGAGGTGCAGCAGATGTCTGGACCCAAGAGCACT[C/T]GAACCATGCGCAGCCGCAAGCTTTACCATCCCATTTACCTGTTCCTTTTC
Long Flanking Sequence:
GTCAGTGTGACAGTGTAGGTTAGAGTACTTAGAATTAGCTCAAATGAAAAGTCAATGGGAAATCCCCTTCAATATATTAATGCACTGTGGGTGTTTGTATGTTTGTTGTTTCAGATTGTGAAGCAGTGCAATGAAGGAGCAAGGAAGATGAGTCGCACTGAGGAGCTGATCAGCATTGAGAAGACACTTGAATTCAAGTCAAAGGTACTACAAATATATATTTATATATTTTGCTGGATAGTTCCACAATATCACAATTTTACTCCCTTTCTTCATATATATTTATCCGCTTGGCCACAATCTGCATTGTAAAAGCACTATAGAAATAACGATGAATTCAATTAATGAATTGATTATATCATATAAATTGTATTTTTTATAAATATATAATATATGTATTTCTCCTCTCGTGTTATTATCAGTCAGTGCCGGTGATTTCTCACTCTCGCTGGCTCCTGAAGAAGGGTGAGGTGCAGCAGATGTCTGGACCCAAGAGCACT[C/T]GAACCATGCGCAGCCGCAAGCTTTACCATCCCATTTACCTGTTCCTTTTCAACAACCTGCTGCTCATCACCAAACGCAACTCCAGGTCTGTGACATCATCAGCTGCACTGCTTGTCAACACATTATAATGATGTCATCATGAGCAATGCCAATAATAAATCGATTTTGTATAGGACAACAAATTATTAATATTTTACTAAATAAAAATAGAGAGAGCGAAACGTTTTTGGTTATATTTCCTGAAGAATGTGAAACAAAATATACAATGCGATTACTCAAAGTGTGCAGATCCTGAAATTTTGCACTAAATAAAAACTGAAATGATGAATAATAGACCTATATTACACAATTTTTACAATACAACAAGCAGTGCACAATTTATTAGTGATGACCATTAATAAAAGTGCAGAAAATTGTATGTTTGATAAACTTAACTATCATTTTGCCCCAGATGAGATGCCTTAAAAATAAACAGATAAATAAATAAATAAACAGATAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8969
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
---|---|---|---|---|---|
ENSDART00000111018 | Nonsense | 555 | 718 | 12 | 15 |
Genomic Location (Zv9):
Chromosome 15 (position 38762731)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 40278518 |
GRCz11 | 15 | 40125570 |
KASP Assay ID:
2260-8914.1 (used for ordering genotyping assays)
KASP Sequence:
TTCTGGATTCGTGCAGTCRCTCCATGCTGAGGACTGAGGATCTGGAGGAT[C/T]AGGGTCAGATGCTGGCCTGTGTGTTTGTGCTGAAGCTGCTGGAGAATCAA
Long Flanking Sequence:
CTATATTCACTGAGAAATTAATAAAACATTTTTTTTATTTTCAAAATGGAGTTTACACAATTATGCTGAGCACTGTGTGTATGTGTTTATAATTTTTCTTTTTTTTTTTGCATCAAAGTAATTTAGACCCAGTTATTTTGGAATTTGAAAATAATTCAAATAATTTCTTTAATTTATCAAATAATAAAGTTAAATTAATAATAAATAAAATAAAATATTCAAAACTGATATACTGATATTACATTAGTTTAGAAGTCAGAAACATTCTTAAAATTACAATAAAATAGTTAACAGGAGCACATATTTTTAATTACCAATGCTTTATAAATTGCATGTCATTTCAAATATGTTATGCTGAACTAATTGTTTAATTGCTTGTTATATAATTGCTTTAATTAATTGTTTAATTGTCTGTATTTTATGTATGTTTCAGTGGAGACAAATTCCAGGTTCTGGATTCGTGCAGTCGCTCCATGCTGAGGACTGAGGATCTGGAGGAT[C/T]AGGGTCAGATGCTGGCCTGTGTGTTTGTGCTGAAGCTGCTGGAGAATCAAGAGGACAGAGAAGTCAGCTACATGCTCAAGACTGAGAGCGTGTGAGAATGCAGTCCTGTGTCTTTATCACACTGATTACAGCATGTGTTTGCTTGCTCCATTAATGCTGCTCTGAATGTTTGCAGAAGCGATAAACTGCGCTGGATTTGTGCTTTGACTCCAAACCGCCGTACGAGATTCCTCTCAACTAGCACTCATGAACCAGGTAACACGCATATTCAAACAGTGTATATTACATGATGCTTTGTCTTGTGTTTGAGTTTAAAAAAAAAACTTTAAACTTGAATGCATGTTGGTTTTGAGAAAAAAATCTTTAAGCTGATGAATGTAAACTGGCATTTTGGTGTCTGGTTTTGGCAAAAAAATAAAAAATAATAATAATAAATAATTTAATATATTAAAGAACAAAATAAATATAATATTATAATTTGTTATAATAATATTATTTGT
Associated Phenotype:
Not determined