ZMP
celf2
Ensembl ID:
ZFIN ID:
Description:
CUGBP Elav-like family member 2 [Source:UniProtKB/Swiss-Prot;Acc:Q6P0B1]
Human Orthologue:
CELF2
Human Description:
CUGBP, Elav-like family member 2 [Source:HGNC Symbol;Acc:2550]
Mouse Orthologue:
Celf2
Mouse Description:
CUGBP, Elav-like family member 2 Gene [Source:MGI Symbol;Acc:MGI:1338822]
Alleles
There are 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38441 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa11849 | Essential Splice Site | Available for shipment | Available now |
| sa30851 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa33469 | Nonsense | Available for shipment | Available now |
| sa20284 | Nonsense | Available for shipment | Available now |
| sa20283 | Essential Splice Site | Available for shipment | Available now |
| sa26299 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa2160 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa38441
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 |
|---|---|---|---|---|---|
| ENSDART00000017443 | None | None | 514 | None | 13 |
| ENSDART00000077926 | None | None | 493 | None | 13 |
| ENSDART00000128368 | None | None | 505 | None | 14 |
| ENSDART00000129320 | Nonsense | 60 | 585 | 1 | 15 |
| ENSDART00000132615 | None | None | 493 | None | 12 |
| ENSDART00000133433 | None | None | 468 | None | 12 |
| ENSDART00000135942 | None | None | 448 | None | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | None | None | 448 | None | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 23053913)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24395975 |
| GRCz11 | 4 | 24116950 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCACTCACTCAATCAGCCGCATTTCTGTCCGAGCAAAGCCCGAGCTGCC[C/T]GAGCCTCAAACATGGTCTCTATAATCTCAGACCTGGACCCCCTCAAGAGC
Long Flanking Sequence:
AGGTACCAATACGGACCCTTCAGGTACAAATGTGTACCTTTTGAAAAGGTACCACCCCAGTGACAGCTCTTTCTGAGAGTGTACACACTAAGTACTCAGTATGCATTGGCGTAATAAGGTTTACATAATGAAGTACACCTGTGCAGTTTAACCGTCTGAGGCGTCATCACAGGCCTATACTTGTCGTTTTGGACGTTTTAACATTCATACTTATGTAGAAAACAGTACAATATTTACAGTTAGGCTACGTCATAAAAAACAAATGCTTTAAATCAGGTATACGTGCGAAAGGTTGCACGCGTTGACTCTGATATTACACAGCGATGAGTCTGAGAGAGCGAGAGAGAGAGCGAGCGAGAGAAAGAGATTGTGAGGGGCGGAGGAAAGAGAGCCAGTTCTCAGCGCTTATCACACTCAGAGCAGCGCAGAGAGACAGTCGGAGTAACAGCGCTCACTCACTCAATCAGCCGCATTTCTGTCCGAGCAAAGCCCGAGCTGCC[C/T]GAGCCTCAAACATGGTCTCTATAATCTCAGACCTGGACCCCCTCAAGAGCTGGAACGTGTTAAGGTAAGACCCGCGCCGAGCGTGCATGCGGAGCACGCCGAGTGTCTCCATCCGCCCGCGCCAAGGCTCCGCTCGACTCCAGCATCAATGTAGTGAGAATTACGCACGGCTTGCGTGTGCTGTTTCAGCTTTAAAAAGTGTGTGTGAGACTTTTTTTCGCCCCCCTCCTTGAGTTCGCACATATTCTGTCATGTGTCTGACGCATGGAGTGGCTTATTAACCCTTTGAGGGACCGAGCAATCCCTCCCCCGAATACACCGGGAATGAGGAGGTTTATCGGACCGGGCGCGTCTGGTCTCGTGTCATATGTGATGCGGGATGATGGTGCTGATGCTGAGGAGAGGAGACGCGGTGCACATCGCTGTCAGCTTTGTGCAGTATAGTTCACTTTAAATCAATCGACTTGACATTTGGGACTGTTTTTATCCACTTATATATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11849
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017443 | None | None | 514 | None | 13 |
| ENSDART00000077926 | None | None | 493 | None | 13 |
| ENSDART00000128368 | None | None | 505 | None | 14 |
| ENSDART00000129320 | Essential Splice Site | 93 | 585 | 2 | 15 |
| ENSDART00000132615 | None | None | 493 | None | 12 |
| ENSDART00000133433 | None | None | 468 | None | 12 |
| ENSDART00000135942 | None | None | 448 | None | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | None | None | 448 | None | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22996017)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24338079 |
| GRCz11 | 4 | 24059054 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTCTCTCACAGGCAGGACGCAAGTGATCTGACTGGAACTATACAGAGG[T/A]AAGACTGTCTCCATCTCTCGCTCTGTCAATTATTTGYACACACTTCTGGC
Long Flanking Sequence:
AAAACTATATATACACCTCTCAAACTGTATTGTTAATCTGTATAGTGGAAACATTAAGACACGTTTTGCCTTGCCTTGTCTTGCCGTGTTTGAACCTAGCCTTGTTTTGTTTGTTTTAAGTTGTCTACTGCCTGCCTTTTGACCATCTGCCTGTTATTTTGACTATGAATCTGGATTTGCCCGTATACATTTGTTTGCCCTTGTGTTGACCGTTGTTTGCCTGACCATTCTGCTAAATAAACCTGCGTTTGGATCCGCACCCCTGTTGTCAGCGTCAATTCACATTACAGTACTAGCAAAAACTGGGTAATGGGTTTGATTCCCAAAGAAAGTTTAAAGTGTTATTTTCCAATGTAAGTGGCTTCGAAATGTGTACATATATATGTAATCCCCAGTTTCAAACCAAATTGCTTGTGTGTCTTTGACTAGGTTAATGAATACATTTTCTCTTTTTCTCTCACAGGCAGGACGCAAGTGATCTGACTGGAACTATACAGAGG[T/A]AAGACTGTCTCCATCTCTCGCTCTGTCAATTATTTGTACACACTTCTGGCTGTTCAGTAGTGTGTTGACTGCTATATTGATGTTATGGTTATTCAGTTTCACACACACAAAGATGAAGTACCATCCTGTCGCTTTTTTTTTCTCTCTCTCAACTGAGACCTTGGGTTGATTGCTGGATTGAAAACCAGACAAAAACAACAATTTTACATTATATGCTTTCATGGCCTTGTCCATGTTTGGTCTCAATAATGTTTAATATAAATTTGTCATACAATATCAGGACATGGGCTGTTCTAAATTAAACAAGCTGCAAGTCTAGACTGAAACACCAGCTGAACACCAGCTTGACCAACTGGGAGAACAGTTTAAGCCAGTTATTACAGGCTATGACTAGCCAGTTAACATATGTGTAAAAAATAATCTTCCAAGATGGCATTCAAGTTCTGAATGGAGATCTGTGAATCTATTTACAATTTATACAATACCAAGGCATATTGAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30851
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 |
|---|---|---|---|---|---|
| ENSDART00000017443 | Essential Splice Site | 22 | 514 | 1 | 13 |
| ENSDART00000077926 | None | None | 493 | None | 13 |
| ENSDART00000128368 | None | None | 505 | None | 14 |
| ENSDART00000129320 | None | None | 585 | None | 15 |
| ENSDART00000132615 | None | None | 493 | None | 12 |
| ENSDART00000133433 | None | None | 468 | None | 12 |
| ENSDART00000135942 | None | None | 448 | None | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | None | None | 448 | None | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22968654)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24310716 |
| GRCz11 | 4 | 24031691 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCGCGAACAGCGCTGTCTCCATGAGGAGCACAGAGGAACTACTGCTGAG[G/A]TAAAGCTGTCCCTGGACAGCACACAAAGACATGCATGCTTACACACACAC
Long Flanking Sequence:
GCTTCTTCATTCGTTATTTTCATGTGAATATATGGAGATATGAGCTGTCCTCGGGGTTGTTGGGCATCCTGGACAACAGCGGGCTTCCCAATTCTAGCCAGCACCAGGCTAACAGCACTAGCTCTGGCCCAAAAACAACATGAGCTGTCAGAAAGGGTTATCACAGCCCAGTGAATCAGACAGGAGGAGGGAGGGACAAGGGGAAGGAGGAGGGAGCTGGTGAGGGCTGGATGGGTGGGAGTGGGAGTGTTACTGCGAGAGAGAGACAGAGAGAGAGAGAGGATTCAGACGCTAGAGAAAGGGCCAGCGTACACCCACCACAACTGAAAGCACAAGGATTGTGTGCGTGTGTAGTGCGTGCTTGCGTTCGGAGTAACGGCGATGTTGGAGCACTCGTCTGAGCTGGGCTTTGTGCCGAGTGTGTGTGTGGACAGCATGCGATACCCATCCACCGCGAACAGCGCTGTCTCCATGAGGAGCACAGAGGAACTACTGCTGAG[G/A]TAAAGCTGTCCCTGGACAGCACACAAAGACATGCATGCTTACACACACACGCACACACACACTAGCTCTGAAAGGTTTGTCGCTCATAGCTGCAGGCATGCGACGAGTCGTTACAGGAATGTTTGGTTGATGGAAGCCCTGCAGATTTGTTGGCGCGGTTCATTGACATGCCGCTTGTAGGCCGTTTGAGCTGTGTGTGTATGCAGTTGTGGTTTTGTCAAATTGCGGGACCCTGCCTGTGCCGTACCACCTGCACTTGTCATGCCGACCATTAAATTGTGCAGCTTGCAACGTTTCCCTCTCTAGTTTCTCTTCCCCGCTGTTCAATTTTAGCCTCTCGGAAGGCTGAAGAGTTGATACAGCTATAGAGAAGTGTTTGAAGATGAGCGTGCATGCACACGATATCGCATGTGTGTGTGTGTGTGTGTGCACGCATGGAAAAGAGATTCATTCCTGATAATAAAACTGTTAATGCAAATCACTGTTCTTACTTATTGCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33469
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017443 | Nonsense | 28 | 514 | 2 | 13 |
| ENSDART00000077926 | Nonsense | 32 | 493 | 2 | 13 |
| ENSDART00000128368 | Nonsense | 19 | 505 | 2 | 14 |
| ENSDART00000129320 | Nonsense | 99 | 585 | 3 | 15 |
| ENSDART00000132615 | Nonsense | 7 | 493 | 1 | 12 |
| ENSDART00000133433 | Nonsense | 7 | 468 | 1 | 12 |
| ENSDART00000135942 | Nonsense | 7 | 448 | 1 | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | Nonsense | 7 | 448 | 1 | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22899512)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 17566280 |
| GRCz10 | 4 | 24242847 |
| GRCz11 | 3 | 17716020 |
| GRCz11 | 4 | 23963822 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTTAACGCTCATTTATTTCTTCTGTCTTTGCAGTAACGGTACAGCTGGG[A/T]AGATGAACGGCGCTCTGGAGCATTCAGACCAGCCTGATCCGGACGCCATT
Long Flanking Sequence:
TAAATATATATATATATATGTATGAAGTGAATTTGTAAAACAATAATAAAAGAAGCATAAAGTCATAGCTGAACAGATGTGTGTTAAGGTTAGTAATCTTAAAAAATATTAAAGAGTGTATTTTTTATAATTGTCTCATTCATCAGTGCCTCCTTTGTTGGCGACCATTGAAAACTTCCATTTTGTTTAGTTTTATGAACTGAGGACCGTCTGCTATTTTCCACCGAACTCGTGGCAGCCTCAGAAATGTACCTGCTCAGGACTGTAAACACAATAGCGCACACATGCTGAGTGTAATAACACTGTTGTGATTTTAATCAGCGCTTGTGTCTCACTGTCTTCCTGCTTTAATGAGGAGCAGTTGTCGATCTGTCCGGCCCAAATTCACTCTCGCTGTGAGCTCCGAGACCAACCCTTTTCACCCGCCATTTTCCAGACCACCGTTTTCACATTTAACGCTCATTTATTTCTTCTGTCTTTGCAGTAACGGTACAGCTGGG[A/T]AGATGAACGGCGCTCTGGAGCATTCAGACCAGCCTGATCCGGACGCCATTAAGATGTTCGTGGGTCAGATTCCTCGCTCCTGGTCCGAGAAAGAGTTAAAGGAGCTGTTTGAGCCGTACGGAGCCGTTTACCAGATCAACATACTGCGAGACCGCAGCCAGAACCCACCACAGAGCAAAGGTAGAGCACGTTTCTTGTCTTTATGCATCACACATGTAGACCTGCTCACATGTGTACTGTGTTAAAGCTTGAGCATATGACTTCCTGTTTTGATTTCTCATTTCCTGTATGTCTTTGTGTCGCTTATTATTCCATCTTTTTAAAAAGGTTGAGTTGGGGTTACACATTACAAATAATTGGATTACTTTTTTCAAGTAGTGCATTATTTTAATGAACGAAAATATCAGACTTTTTTTCATATAAACATTACAAAGCTCACATGTGTCATGTGTTATAGCTTAAGCATCTGACTTCCTGTTTTGATTCTTTATTTCGTGTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20284
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017443 | Nonsense | 87 | 514 | 2 | 13 |
| ENSDART00000077926 | Nonsense | 91 | 493 | 2 | 13 |
| ENSDART00000128368 | Nonsense | 78 | 505 | 2 | 14 |
| ENSDART00000129320 | Nonsense | 158 | 585 | 3 | 15 |
| ENSDART00000132615 | Nonsense | 66 | 493 | 1 | 12 |
| ENSDART00000133433 | Nonsense | 66 | 468 | 1 | 12 |
| ENSDART00000135942 | Nonsense | 66 | 448 | 1 | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | Nonsense | 66 | 448 | 1 | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22899335)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24242670 |
| GRCz11 | 4 | 23963645 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTACCAGATCAACATACTGCGAGACCGCAGCCAGAACCCACCACAGAGC[A/T]AAGGTAGAGCACGTTTCTTGTCTTTATGCATCACACATGTAGACCTGCTC
Long Flanking Sequence:
CCATTTTGTTTAGTTTTATGAACTGAGGACCGTCTGCTATTTTCCACCGAACTCGTGGCAGCCTCAGAAATGTACCTGCTCAGGACTGTAAACACAATAGCGCACACATGCTGAGTGTAATAACACTGTTGTGATTTTAATCAGCGCTTGTGTCTCACTGTCTTCCTGCTTTAATGAGGAGCAGTTGTCGATCTGTCCGGCCCAAATTCACTCTCGCTGTGAGCTCCGAGACCAACCCTTTTCACCCGCCATTTTCCAGACCACCGTTTTCACATTTAACGCTCATTTATTTCTTCTGTCTTTGCAGTAACGGTACAGCTGGGAAGATGAACGGCGCTCTGGAGCATTCAGACCAGCCTGATCCGGACGCCATTAAGATGTTCGTGGGTCAGATTCCTCGCTCCTGGTCCGAGAAAGAGTTAAAGGAGCTGTTTGAGCCGTACGGAGCCGTTTACCAGATCAACATACTGCGAGACCGCAGCCAGAACCCACCACAGAGC[A/T]AAGGTAGAGCACGTTTCTTGTCTTTATGCATCACACATGTAGACCTGCTCACATGTGTACTGTGTTAAAGCTTGAGCATATGACTTCCTGTTTTGATTTCTCATTTCCTGTATGTCTTTGTGTCGCTTATTATTCCATCTTTTTAAAAAGGTTGAGTTGGGGTTACACATTACAAATAATTGGATTACTTTTTTCAAGTAGTGCATTATTTTAATGAACGAAAATATCAGACTTTTTTTCATATAAACATTACAAAGCTCACATGTGTCATGTGTTATAGCTTAAGCATCTGACTTCCTGTTTTGATTCTTTATTTCGTGTAGCTCTGTTTTTGCCATGCTTTTGTCATCCAAATCTTTCTAATATTCCATCTATCAGTAGTGTTGGGGTAATGCATTAAAAGTAATCCGATTACTTTTTTTAAAAGTAACAAGTAACACATTACATTTTTAGCGAATCTGTTTTTGTCGCTTTATACATATTAATATTGTTTTGTTATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20283
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017443 | Essential Splice Site | 131 | 514 | 4 | 13 |
| ENSDART00000077926 | Essential Splice Site | 135 | 493 | 4 | 13 |
| ENSDART00000128368 | Essential Splice Site | 122 | 505 | 4 | 14 |
| ENSDART00000129320 | Essential Splice Site | 202 | 585 | 5 | 15 |
| ENSDART00000132615 | Essential Splice Site | 110 | 493 | 3 | 12 |
| ENSDART00000133433 | Essential Splice Site | 110 | 468 | 3 | 12 |
| ENSDART00000135942 | Essential Splice Site | 110 | 448 | 3 | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | Essential Splice Site | 110 | 448 | 3 | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22874281)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24217616 |
| GRCz11 | 4 | 23938591 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGCACCATCCCATACAGATGAAGCCCGCAGACAGTGAGAAATCAAATG[G/A]TGAGTGTCTCCTATATTTTGTCTCCAGTACGCTTGTCTTTCCATCTGTGT
Long Flanking Sequence:
TGAATATTGTCAAACAGACATTAAAAGTCAAATAAGACACACAACTTTAACAACAAAAATGAAAAACACAGCATTACCTCCACAAAAATATTAATCTGACCCCTGTGTACATAGACTGACAATTAAAAATAGTGCAGACGGGAAAGACCCAGAGCACACAACAAATTATTCAGAAAAAAACATTAGATCGAGATTAAGAGAACAGGAAAGATGGAGCGCAATAAACATTTCATCGGCAAAGTGCTGACAAATCACCTTCATCAGCAGCCCCGCTCGCGTACGTCTTCATTCGGCTCGCGTCTATCGAGATGAAGAATTGAGTCAGCGGAAAAAACGACGACACATTAACAAGATTACAGCGATAATGTAGAACATCAGCGAGACCAGCTTGATTATGAACATTAATGAGTGTGCTGTAGTAAATGTAACCCGTGTGCGTCTTGTGTTTCAGATGCACCATCCCATACAGATGAAGCCCGCAGACAGTGAGAAATCAAATG[G/A]TGAGTGTCTCCTATATTTTGTCTCCAGTACGCTTGTCTTTCCATCTGTGTGTGTGACTGACTGGAAGATGACTGAATTATTGAAGCCCAGGAGAGCCGCGGGTCAACAATAGTTTAAGCGTCTGGCCTGGCAGTGACCCATACGCGTATATACAGACACTCAGATAAAGCGAATCACTCATAAAATGATTTCATAAATGTGGTCAGGAAGTCCAGTGAAAGAGAGCTGGTGACCAGAGGATCTGCAAAGCTCTTTAAAGGAGATATGTCATAAAAATGATAGACTTTTTTCATGTTTAGGGGCTATCATCGGTTCCCCAACGCATATGTAAGCTCAAAAGGCTCTATCTATTTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26299
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 |
|---|---|---|---|---|---|
| ENSDART00000017443 | Essential Splice Site | 176 | 514 | 5 | 13 |
| ENSDART00000077926 | Essential Splice Site | 180 | 493 | 5 | 13 |
| ENSDART00000128368 | Essential Splice Site | 167 | 505 | 5 | 14 |
| ENSDART00000129320 | Essential Splice Site | 247 | 585 | 6 | 15 |
| ENSDART00000132615 | Essential Splice Site | 155 | 493 | 4 | 12 |
| ENSDART00000133433 | Essential Splice Site | 155 | 468 | 4 | 12 |
| ENSDART00000135942 | Essential Splice Site | 155 | 448 | 4 | 12 |
| ENSDART00000138873 | None | None | 208 | None | 5 |
| ENSDART00000139439 | Essential Splice Site | 155 | 448 | 4 | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22868036)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24211371 |
| GRCz11 | 4 | 23932346 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGATCGAGGAGTGCCGCATCTTACGGGGACCAGACGGACTCAGCCGAG[G/A]TGAGACACATGCATATTATACAACAATCATATTGAAAAAGAAACATATAA
Long Flanking Sequence:
TTTTTGTTGCATTAGCGCTAAAGAGTTGCTAGTCTTTTTAGTGAACTATGAAAAAAAGAGAGGAAAAATAAAATGAAATCGCATCCATTTTATTCCCACTAAAATGCACATCGCATCATAATTACGGCCTTCAAGCTCGTAAATAGGAAGTTCCCCACGAGGACTAGAAAGGCAGCGCATGTAGATTATGGCAGAAGAGAAAGCACCCGGGTCACTGAAAGAAAAGATCAGAGAGAACCCAGCAAAAATGAGTGTGTGTGTTTGTCATTGATGTGCAAATGAGACGCTGATCATGTGCAGCCTCAATGTCTATTTTAGCGCACGTTGGTCACACTTGTTTTCTCCACCTCTCCTCTTTTGCTCAGCGGTGGAGGATAGAAAGCTGTTCATTGGGATGGTGTCGAAGAAATGCAATGAGAACGACATTCGGGTCATGTTTTCTCCCTACGGACAGATCGAGGAGTGCCGCATCTTACGGGGACCAGACGGACTCAGCCGAG[G/A]TGAGACACATGCATATTATACAACAATCATATTGAAAAAGAAACATATAATTATTCTTTTTGAAACATGGTTGGATAGTTTTACAATAGCAGGGCAAATGTGAAACTAATTTGGTGAGCCAGCCAAGATACAGTGAAGCACACTGGGTAGCTACGCCCACAGTGAAATACCATTGGTCAAATAAAACTTTTGATGCAACTATATATTAAACAGCATACATGACTGACACAGCTTTTTACATTTTTACTTGTGGACTAACATCATTGGTGCTGGTTAGAGTTACTCGAGATTACTTAAAATGTCTAGTCAATTGCAAGATCAAGTTTACTTGGTTTAGGTAATATAAATGACTTCTTTTGGATTACTTTTGGATTACTTTTATGTATCCTAAGTGTACCCATGTGGTTGTAGGGTAATAATAGTGAGTAATAATAATATAAAATAATAATAATATAAAATAATAATATATGATTTAGAATAATGATTGTTCTGATTACTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2160
Status:
F2 line generated
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 |
|---|---|---|---|---|---|
| ENSDART00000017443 | Nonsense | 398 | 514 | 11 | 13 |
| ENSDART00000077926 | Nonsense | 377 | 493 | 10 | 13 |
| ENSDART00000128368 | Nonsense | 389 | 505 | 11 | 14 |
| ENSDART00000129320 | Nonsense | 469 | 585 | 12 | 15 |
| ENSDART00000132615 | Nonsense | 377 | 493 | 10 | 12 |
| ENSDART00000133433 | Nonsense | 352 | 468 | 9 | 12 |
| ENSDART00000135942 | Nonsense | 332 | 448 | 9 | 12 |
| ENSDART00000138873 | Nonsense | 92 | 208 | 3 | 5 |
| ENSDART00000139439 | Nonsense | 332 | 448 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 4 (position 22828693)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 24172028 |
| GRCz11 | 4 | 23893003 |
KASP Assay ID:
554-2888.1 (used for ordering genotyping assays)
KASP Sequence:
GKTCGGCCGGGCCTATGGACGCTCTCACACAGGCCTACTCAGGGATCCAA[C/T]AGTAYGCGGCTGCCGCCCTGCCCACCCTCTMCAGCCAGTCCCTACTGCAG
Long Flanking Sequence:
TTTAATAATAATAATAATACAATCAATAATACATTGAGCAGCAGAATATCACAGTAAATATGATTTCTGAATGATCATATGACACTAAAGACTGAAACTACATTGGATAAAGAAAACGGTCAGTTTAAATGATTATAATATTTGTTCAGCTTTTGCAAATACAGCTTTGGTAGGCACAGGTTTCTTTTAAAAGCACTTGAAAAACTTACTGACTGACTTATTTGACAAGCAGTGTACGTTTCCATGTGTCGTTGGTTTTTATTTTTGTGTGTGTGTGTGTTCTGTGCGTGTCGTGTTGTGCTTTGTTGTAGAAACACACCCCGAGTTCAAATGCTAACGAGTAAGAGCACTTCTTTTTTCTTTATTGTTGGGTTTTATGTAAAGTTGCTCACATGCTCTCAGGTATGGCGGCTTTGAATGGCGGGCTGGGCAGCACAGGTCTGAGTAACGGGTCGGCCGGGCCTATGGACGCTCTCACACAGGCCTACTCAGGGATCCAA[C/T]AGTACGCGGCTGCCGCCCTGCCCACCCTCTACAGCCAGTCCCTACTGCAGCAACAGAGTGCTGCGGGCAGCCAGAAAGAGGGTATGACACACACAGACGCAGATGTAAACTAGTTTTACAAAAATCTAAATTTACTCTCCATTTACTCAACCTCAAGGGGTACTTTCTTCTTGTGAACACAAAAGAAGACATTTTGAAGAATAATGGTAGAGATTGAGATCCATAGTTGGAAAATATGGATCAATGGCTTGTGGAAATTAATGTCTTCTTCAAAATTAGTTTTTTGTGTTTAAACAGTTTTGGAAGTGGATGATGAGTAAATTATATGCAATATAAAACACATATAAAAATGCAAATTATATTTTGACTATCACAAGGGTATTTTTTCCCAGCAATGTTAACTATTTAGTTTAAAATTCAAGTTGTCTTTATTTTATGTATCAATTATAATAATTGTTTTTTCATAATATTATATTCCTATATTATAAATCGGAAGTGCT
Associated Phenotype:
Not determined