ZMP
celf1
Ensembl ID:
ZFIN ID:
Description:
CUGBP Elav-like family member 1 [Source:UniProtKB/Swiss-Prot;Acc:Q9IBD0]
Human Orthologue:
CELF1
Human Description:
CUGBP, Elav-like family member 1 [Source:HGNC Symbol;Acc:2549]
Mouse Orthologue:
Celf1
Mouse Description:
CUGBP, Elav-like family member 1 Gene [Source:MGI Symbol;Acc:MGI:1342295]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21022 | Essential Splice Site | Available for shipment | Available now |
| sa11143 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21022
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 |
|---|---|---|---|---|---|
| ENSDART00000018448 | None | 148 | 501 | 7 | 16 |
| ENSDART00000041055 | Essential Splice Site | 186 | 534 | None | 16 |
| ENSDART00000123170 | None | 186 | 535 | 5 | 14 |
| ENSDART00000132169 | None | 175 | 528 | 5 | 13 |
| ENSDART00000134570 | None | 148 | 501 | 6 | 15 |
| ENSDART00000139187 | Essential Splice Site | 148 | 216 | None | 8 |
| ENSDART00000143815 | None | 148 | 169 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 7 (position 39944327)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38280967 |
| GRCz11 | 7 | 38552225 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCAAATCGAGGAGTGCCGCATATTGAGAGGTCCAGACGGACTAAGCCG[T/C]GGTGAGAGCCATCTAAAACACACGTACAATGTCATTATCATCATTTAAAG
Long Flanking Sequence:
GCTGAGCACTGGCTAGATCTGTCTTTCTGATGGATAAAATTCAACGATTTAGGGGTATGCATCTGCCCTCCAAATGTCACCCATGATGATTTCCATAAACATTTAAAATGATACAAATGTTCCGTAAGCACCAAATCAGCATCTCTGAATGTTTTCTGAAAGGTCATGAAACTGAAGACTGGACTAACTCTTGTCTTCATCAGAACAAGTTAAAATTTGTTACAATAAAAAGCATTTATGTCTAATAGTATTTCACCTTATGACTGTTTTAGTTTGTTGTATAACATTAAATGAAGATGAGGGTCTTTTGCATGAAGAATTTGTCAAAGCAGGCAGTTTTTCATTACATGCTTTTGTTTTTTTTCAGCGGTAGAAGATAGAAAGCTGTTTGTTGGAATGATTTCAAAGAAGTGCAATGAGAACGACATCAGACTCATGTTTTCTCCATATGGTCAAATCGAGGAGTGCCGCATATTGAGAGGTCCAGACGGACTAAGCCG[T/C]GGTGAGAGCCATCTAAAACACACGTACAATGTCATTATCATCATTTAAAGTAAATTACATGCATGATGTGATACGGTGCACTCAAATATGTGCTGTTCATTTTTCGGCAGCGTATCGCATCATGTGTGTAATTTGACTTGTACCACATACAAGCATGAATCTAACATCTAGTCTTTCCCCCAGGGCAGCACACTAATAATCATGAAGTACATCTTCACTAGTCACTGTGTCTACTCTTAGTTATTTTGATATGGCTGTGTTTTGAGTAACTAATAATTGCAGATGTAATTCATCACAGACAAAATGAGAATCAGTTGGCTTCTGTAGGCCAAAATGAAAATGGCTTAATTCATCCCAAACTCAGCATGGCAGCTGATATAGGAGGTTACATAACCCTGACTGCATGCAACAAATTGAGTTGCTTTAATCATTCAGTTTAGATACTTTTCTGTATTGTTCTTGTTTCTAGCTCTCATTTATCTGCACTGTCATTTAAGTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11143
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000018448 | Nonsense | 236 | 501 | 10 | 16 |
| ENSDART00000041055 | Nonsense | 269 | 534 | 10 | 16 |
| ENSDART00000123170 | Nonsense | 270 | 535 | 8 | 14 |
| ENSDART00000132169 | Nonsense | 263 | 528 | 8 | 13 |
| ENSDART00000134570 | Nonsense | 236 | 501 | 9 | 15 |
| ENSDART00000139187 | None | None | 216 | None | 8 |
| ENSDART00000143815 | None | None | 169 | None | 7 |
Genomic Location (Zv9):
Chromosome 7 (position 39940929)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38277569 |
| GRCz11 | 7 | 38548827 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCTCTGTTCTCTGTTTTGAWGTAATGTCTAGCTTTATTTGCAGCTTCTA[C/T]AGCAGTCTGCTTCCTCTGGAAATGCGCTCAACAATCTCCATCCAATGTCA
Long Flanking Sequence:
TTGCTGTGTTTTTTCTGCTGTGTTTGAGCACATGGGCTACAGGTCTGTGGTTGGCTGTTATTTAGCTGCATTTAAATTGGCTTTTCAAATTCCCTCTTGACAGTCCATTATTGGTCATTCCTAAAAGCTCAGTTACCGTTTATTAGTAGGCCAGCACAGAACTATAGCCCTTTTTGAATGTGTTAGTGCTGCTCCATGGGTGTGCTGTGAAAACTTTTTCTATCTTCATCTTTTCCCCGTCTAATCTTTCTCTGAGTCCTTCTAATTTCTTTTATAATTTCGTAAAGCCCCTGAATGTTAACTTTTCACTCCACTTTGTTTGTCTTCTTCCCCACATTTGCTCCTGCTTGACTTTATTTTGCCTTGTTGCCTGATTTATTCTCCTCCTCCTATTCTCTCCTCTTCTCTCCTTCTCTCCTCTCCATCACAGTCCTGGATGCAGTCCTGACTCTCTCTGTTCTCTGTTTTGATGTAATGTCTAGCTTTATTTGCAGCTTCTA[C/T]AGCAGTCTGCTTCCTCTGGAAATGCGCTCAACAATCTCCATCCAATGTCAGGTGAGAGTCTGACGTGCTTTGCTCTGTCCATAACAGGATAACACCTCTTGGCTGATTGGCAGATAACTTAAATATGTCCTACTTAATTTCGAAGAAACTTCAATAGCCATGATGTCTTTCTATGTTTATTTTTTAGTCTGTTACAATAGGGGCTTTCACACTGGAGTAATGTTTTTGGCATGTCCACACCACAGGAACTGGGAACAGTTTTAGGAACACCATTTGGGTGAACAAAATTGGCCTCTACTTCAGAGCAGGGTCTAATTTAGCACAGTAGGAACCCAATGTTTGCCATAGGAAACACAAGCACAGAATTTTAAAGTGTTGCAAGACTTATACACTAATAAAGCTGGTGGTAGAGGCAGTTGCCTGTTGTGTTTTTGTCTGTGGCTTCGTTCTTTTTTTTTCACTTGTCATTGGTGACTTAGTTCTTTTTGCTGTTTGGAATG
Associated Phenotype:
Not determined