ZMP
si:ch1073-186e1.1
Ensembl ID:
ZFIN ID:
Description:
gephyrin2 [Source:RefSeq peptide;Acc:NP_001165871]
Human Orthologue:
GPHN
Human Description:
gephyrin [Source:HGNC Symbol;Acc:15465]
Mouse Orthologue:
Gphn
Mouse Description:
gephyrin Gene [Source:MGI Symbol;Acc:MGI:109602]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43543 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa45718 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa43544 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa37171 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43543
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 |
|---|---|---|---|---|---|
| ENSDART00000087952 | Nonsense | 34 | 796 | 2 | 25 |
| ENSDART00000130221 | Nonsense | 13 | 715 | 1 | 21 |
| ENSDART00000133078 | None | None | 448 | None | 14 |
Genomic Location (Zv9):
Chromosome 20 (position 51230716)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 51104444 |
| GRCz11 | 20 | 50898869 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGTGTTGCAGTCAGTGACAGCTGCTTCCGCAATCTAGCTGAAGAC[C/T]GAAGCGGCGTCAATCTCAAAGATCTCGTCCACGACCCTTCATTGTGAGTG
Long Flanking Sequence:
CACATTCGTTTGCTATCGGGGAAGAGACTAAGCTAAAGGAAAATGAATTAATTAATTTATTTTTAAAGGAAACATGATGCATCTTATTTCTTTCAGGATTCCTTTTAAAAGAAAATAGTTTGTTTGAAATATATAAATATATAACTTGATGCAAATATCTAAAATAATTTGTACATTTACAGATACATTTACACAAGCAAAATGACCGTTTTCTGAGAGAAAAGGATCAATCTCTGCTTCATTTGTGATAAATATCTGCTCATGCATCAATACACTGAAGCCGCTAAATACAAAATATATTCAAGTAGCTTTTTTCCTCAGGAAAATGTTTGATTTTATTTTCTGAGCAAACGATAATCCTTATTATGAACACACACTGATGTTGATCTCTAATTTTGACTTGTTTTAGGAGAATTTCTTCAATTAAAAGTGTGTATGTCTGTGTTTTCTGTGTGTGTGTTGCAGTCAGTGACAGCTGCTTCCGCAATCTAGCTGAAGAC[C/T]GAAGCGGCGTCAATCTCAAAGATCTCGTCCACGACCCTTCATTGTGAGTGAACATACACACACACACACACACACACACACACACACATACACACAATTTCACTTACAGAAACAGACTCATACTCAATCTCACACATGCATAAATACACACTCATACACACACAATCTCACCCATAAACACACACACACACAATGTCACACGTAAACACACAATCTCACACACACACAGATACTTGGATACACACAAAATACCACTTACACAAACAGACTCTCACACATAAACACTCATGCACTCACACACTCATGCACTCTCACACACATAAACACACAAAACACAACCTCACTTACAAACACACAACTATCTTTCTCTCTCACACACACACACAACTCTCACACACTAAAACACACACACAATCTCACTCACTCACAGAAACAGACACACACTCATCCACATTCTCACACATGCATAAACACATACTCATCCACTCATAAACACAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45718
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087952 | Essential Splice Site | 440 | 796 | 14 | 25 |
| ENSDART00000130221 | Essential Splice Site | 359 | 715 | 10 | 21 |
| ENSDART00000133078 | Essential Splice Site | 92 | 448 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 20 (position 51316966)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 51169035 |
| GRCz11 | 20 | 50982255 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCTGCCTCCATTCCCTGCCTCTGTTAAAGACGGGTACGCTGTCAGAGG[T/C]GAGGCAGATGTGGAGATTTTGCGTTCTTTGTTATCATAGTTGATAACCTC
Long Flanking Sequence:
ATATGCATTTGTTCATCTGAATACTGAATCCATACCCACTGTAAATAAGATAGAAGCGAATATTTGTGTGTACGTGTTTGCACATGTGTTTGTGTGTGCTGTAGGTCATAGTGCGGTGGACATCACCAAAGTGGCTCGGAGGCACCGCATGTCTCCATTTCCTCTCACCTCTATGGACAAAGCCTTCATCACTGTGCTGGAAATGACTGCGGTTCTGGGCACTGAGATCATCAACTACAGAGGTGAAACAACACACACCTGCATTCAAAACAAAGCAGAACAGTGGAAATATCAGCATTGGAAAAAGTCAATTATATTGTACAACTGCAGATTGACTACATATATATGATTGATATATGATTAACCCTACTTGTGTGTGTTTGTGTGTGCATGTGCGTTGTTGCAGACGGCATGGGTCGAGTTCTGGCTCAGGACGTTTATGCCAAAGACAACCTGCCTCCATTCCCTGCCTCTGTTAAAGACGGGTACGCTGTCAGAGG[T/C]GAGGCAGATGTGGAGATTTTGCGTTCTTTGTTATCATAGTTGATAACCTCATGTGAGCGGATTTTATCTATTTTATTTTTTAAACAGATTGGGTCATTATAATCTAGGAAAAGTCTGTAAAATAACAGTGTTTTACTGTAAACATTTGAATGAAAGTATCTGTAGATTTGTTATTTTTTCACTTTATTTCAACAAAGAAATGTTACCGTAATTTTATGGTTTTTGTTTGGCAGCCGTAGCAGTGGCGGTTCTAGACCAGAGTAACTCGGGGGGCCGGGCAGGGGCCACTTGTACTTTTAGGGGGTACACTTTAACATACATCACAAACTGCTTAATTATACTACTTAAAGTCACTATTTTATGCATCACTCTGCAGTCTTCATAAACATTCATTTTCATTTCAGCTTAGTCCTTTTATTAATCTGGGGCTGCCAATTTATCCAGCATGTTTTAGGCACCAGCTGCAACCCATCACTGGGAAACACCCATACACCACAGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43544
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087952 | Essential Splice Site | 639 | 796 | 20 | 25 |
| ENSDART00000130221 | Essential Splice Site | 558 | 715 | 16 | 21 |
| ENSDART00000133078 | Essential Splice Site | 291 | 448 | 9 | 14 |
Genomic Location (Zv9):
Chromosome 20 (position 51324307)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 51176376 |
| GRCz11 | 20 | 50989596 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCGCGCTGATGTCATCATCACCTCAGGGGGCGTGTCCATGGGCGAGAAG[G/A]TGAGACCAATTTTATACACTATTCATATTTAGCTTTACATGTATGATTGT
Long Flanking Sequence:
GACAATATAAGCAGTTTCTGATCAGTAAATGTTGTTGTTTCCAGCTGCTAAACCCGGAGGATGATTTACATCCCGGTAAGATCAGAGACTCGAACCGCTCCACACTGCTGGCCACCATACAGGAGCATGGCTACCCCACCATCAACCTGGGCATCGTAGGAGACAAGTAAGCTTACACACATAAAGACCAAAGAACGGGTGCAAAATTAACCTTATACACGGAGATTCAGCTCTAAATCCCCCACAAATGTTTTAAAACTCTTTGAGACTGCCCCTTTTAGGCTTTAATATGAATTGTAGCAATTTGGTTACTGTTGCTTTAAATGCAAATGAGGTTTTTTCAAAAGAGGGCGGGGCTACACATGTCTATGTCAGCATAGTGGCAAAAATTTGTTTTGTGCCTGCCCTGCAGTCCTGATGACCTGCTGAATGCTCTGAATGAGGGCATCAATCGCGCTGATGTCATCATCACCTCAGGGGGCGTGTCCATGGGCGAGAAG[G/A]TGAGACCAATTTTATACACTATTCATATTTAGCTTTACATGTATGATTGTTTTTGTTTTCCTTGGAAATTATTGGAGACCCTATTGTAAGTCTTTGATGTCCTTAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCATCTCAAAATACTCCACAAATACTGCTTTATAACTCTCTGAAACTGACCTGTTTAGGCTTTGAGGCTTTTTGGTGACTGTCACTTTAAGTTGAAATGAGATTGTGCTCTTTATAAAAAAGGCGGAGCTACAAACGCCTGTGTGTCAGCATAGTGGCAGATTCAAATTCAAGACTAACTTATACAAATGAGGGAGAGATGGTCACTGATGGGCGGAGCTTTCCCCCTCTGATGACACATGCAAAGGGAGAATGTCAATCAAAGTGTTTCTGCTTTTTTCTCAGACTGTTTTCATCAAGTGTGATTATAAAAGATAGAATGAATTAAATTTGACCATTAGATGCTGGTTATATTCCCACACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37171
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087952 | Essential Splice Site | 721 | 796 | 24 | 25 |
| ENSDART00000130221 | Essential Splice Site | 640 | 715 | 20 | 21 |
| ENSDART00000133078 | Essential Splice Site | 373 | 448 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 20 (position 51331198)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 51183267 |
| GRCz11 | 20 | 50996487 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTGTGAGTATCCATTTACAATCTATTGAAAAATCCCTGTGTTGTTTCC[A/C]GTTGTCCTGTGATGTGAAGCTGGATCCGCGTCCGGAGTATCACCGCTGTA
Long Flanking Sequence:
TGTACACTTCACTAGGGGTGATGATCCTTAGCAAAATGAACTACGCTGCACTTTTCTTGTTATTGGACCATTTATTTAAAGATTTTTCACCCTTATGTGCTGTCGGTGATGTTTTAAGCCACTCTGGGGTTGATTTCAAGTCTTAATTTGGCCACAACTTTCAGCAAATGGGATGATGACATCTTATTTTGACACATATTTTGGGAAAATGATTTGATGATTTTCAAAAACTCTACAATACACTCTGGTCAAATGGACTACCCTTTCATTATGTTGGGGGCTGTTTTTGTCCCATTGACCATTGTACTATAATTGAAAACCCACCATAATAAAAGCCAGGGTCACACTATTTTACTCTTCATTAGGGGTGATAACCCTTATGAAAAGGTATACTTTAAGTACACTTAAGTAAGTGTATAAAATTTGGTTTTCTTTGCTGAATGGTAAGTAGATTGTGAGTATCCATTTACAATCTATTGAAAAATCCCTGTGTTGTTTCC[A/C]GTTGTCCTGTGATGTGAAGCTGGATCCGCGTCCGGAGTATCACCGCTGTATTTTAACATGGCACCATCAGGAACCTCTGCCATGGGCACAGAGCACAGGTCACAAATCTATTGTTATTATTACAGACATTTCTTATGGAAATGAATTTGTCCAGAACAGCTGTAGTTGACAATTAAAGGTTGTTTATTAGAATTCATGATTCCATCAAGGCTTTAAAATGACCATTAAAACCATCTAGTGGATCTGTCATCTAAAATGTACAATGAAATGTACCCTAAGGAACGTATGTCAGATTCTCAAAAATGCAACTTTTAGTGCATTTGTCATTTGAAATGTTATACGAAACGTACCCTAAGTCATGTATTTGAGATTGGCAAACATGTAGACAGGGATTTTTCTACTGGATTTTTCATCAGAAATGTATAACAAAATGTACCCTGAGTAACATTTCAAAAATGCAAAAAAAATGTGTCCACTTGTGGATTTGTCATCTAAAACCT
Associated Phenotype:
Not determined