ZMP
NP_001091056.1
Ensembl ID:
Description:
cytoplasmic FMR1-interacting protein 2 [Source:RefSeq peptide;Acc:NP_001091056]
Human Orthologue:
CYFIP2
Human Description:
cytoplasmic FMR1 interacting protein 2 [Source:HGNC Symbol;Acc:13760]
Mouse Orthologue:
Cyfip2
Mouse Description:
cytoplasmic FMR1 interacting protein 2 Gene [Source:MGI Symbol;Acc:MGI:1924134]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa642 | Essential Splice Site | F2 line generated | Not yet available |
| sa16828 | Nonsense | Available for shipment | Available now |
| sa1556 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa642
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020014 | Essential Splice Site | 300 | 1253 | 9 | 29 |
| ENSDART00000123607 | Essential Splice Site | 300 | 1253 | 9 | 30 |
Genomic Location (Zv9):
Chromosome 14 (position 35099682)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 33672720 |
| GRCz11 | 14 | 34013034 |
KASP Assay ID:
554-0551.1 (used for ordering genotyping assays)
KASP Sequence:
TGGATGCCAAGAAAAGGATAAACCTCAGCAAAATCGACAAGTTCTTCAAG[G/T]TGAAACCAAACTACCCGGTTCTCATKAGGACCGTTTTCATTTTNGGGTTT
Long Flanking Sequence:
GAGTTTATAATCAGTCGGGGCTTTCAAAACTCAAAAGAAATACAAATAAGGAAACATAAAGTGGTTTATACAACTTTTGAAGCTGCACTTTTTTATAGATCAAAACATAAGGAATTTTGCCATATAATCATGTCCTCCTCACTGAAAGCTCATTGTGTGGTGTTTTGTGTGATGTTTGTCCAGTGTCTGCACCAGCAGCTGGAGGTGATCCCAGGTTATGAGGAGCTGCTGGCTGATATTGTCAACATCTGTGTGGATTACTACGAGAACAAGATGTACTTGACCCCCAGTGAGAAACACATGCTGCTAAAGGTGAGCGCATCCATTCCTGCTAAATCTTTTAAGACTCGATTGAAAGAGAACTTCACAAGTGAAGGCATGACTTTGTGTTTCAGGTCATGGGTTTTGGCCTGTACTTGATGGATGGAAATGTCAGCAACATCTATAAGCTGGATGCCAAGAAAAGGATAAACCTCAGCAAAATCGACAAGTTCTTCAAG[G/T]TGAAACCAAACTACCCGGTTCTCATTAGGACCGTTTTCATTTTTGGGTTTTTGTAATGGCTGTATGTTTCCCTTTGCAGCTTCAGGTGGTGCCACTGTTTGGTGACATGCAGATTGAACTGTCACGGTACATAGAAACAAGTGCCCACTATGAAGAGAACAAATCCAAGTGAGTGATCTAATACTGCATATCAAAGAAAAGTATGAAAATCATAAATGCCCTGTTTCCATTAGGTATTAACATGTTTTCAGTAATCTGATCACAAACTGTATGCCAAAATGCATTGCTGTTTTTACTTAATATTAACATCTGAGCGAATGCTTTCTAAACAATGCTTTCTTAATAATCAGGGTGTCTGCTAGGTCCTAAAAGGTCTTAAAATATCTTAAAAACTAAAATGTAGGCCTTAAATTGTCAGGGATCTTAAAGAGACACAAATGCAGGCTTGAGAGAATCAGGGGAATTTATTTTCAATATCCAAACAAAATATCTTTCTAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16828
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020014 | Nonsense | 702 | 1253 | 17 | 29 |
| ENSDART00000123607 | Nonsense | 702 | 1253 | 17 | 30 |
Genomic Location (Zv9):
Chromosome 14 (position 35087014)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 33660052 |
| GRCz11 | 14 | 34000366 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTGTTTCTTCTTCATTTYAGGTCAACCTGTGTTTTGATCAGTTTGTGTA[C/A]AAGTTAGCTGACCAGATATTTGCCTACTACAAAGCAATGGCTGGAAGGTA
Long Flanking Sequence:
AAAACATAAATGGTAGGGGATTCTTTCACTTAATTTGAATTTAAGAACGTTATATTCATCAAAGTCATAAAAAATATCACAGTAAAAATAACATTTTCAAAGGATCTTAAATGACATTTGTATTAATATTACTGTTTATTACCCAGTATTGTCCAATTTACAAGAGCATTAGAGACTTCTATATAAAGCACAAACTCACTGACCCCAAAGTTTTGCACAACAGTGTATATGAACATTTGCTAATTGTGTCTGTCTGCATTTTTACATGTTTTTTTTTTCCCATCAGGTACGTGTTATATCCATTAGATCTTTACAATGACAGTGGTTATTATGCCCTCACAAAATTCAAGAAGCAGTTCCTCTACGATGAGATAGAGGCCGAGGTAGAGTTTCACAGATTTATTCAAATGTCTCCCATTTGCAAATAGCCTTTATTAAATAAAAGCTAAAACTGTTTCTTCTTCATTTCAGGTCAACCTGTGTTTTGATCAGTTTGTGTA[C/A]AAGTTAGCTGACCAGATATTTGCCTACTACAAAGCAATGGCTGGAAGGTAATTATTTTTTTTAATTATTATTAATATTAAGCATGTTTAGTTGTTTACTCCTGACAAAAAAAGAGAGAAATTCATTAATCATTTATGCTGTGTGTACATTTGTGCAAAGGATGCTCTATATCAGTTGTGAAAAGATTTTATAATGTGTCAAGACTCAAGAAGTCAAAAAAAAACCTTTATTGCACTTATTATTTATTGTATTGTGCAATGTAGTTTACTTGACTTAGAAAAGCAAAAGTACTTTGTGTCTCATTCTGTGTAATTTAGTCAAACCAATGTTTGTATGGAAGCATTCACCCTTTTTAGCACAGCACTTGCAACAGTTTGTCTTTATTTAACCAAAGTATGAACTAGCCCTACATCTCAATGTTTTTTTCTCTCCTGCTAAGCACAGAAATCAGTCAGCTTGTTTGTAATTTCAGTCTTTAGATTGAATAGAATCGATTGTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1556
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 |
|---|---|---|---|---|---|
| ENSDART00000020014 | Nonsense | 750 | 1253 | 18 | 29 |
| ENSDART00000123607 | Nonsense | 750 | 1253 | 18 | 30 |
Genomic Location (Zv9):
Chromosome 14 (position 35086400)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 33659438 |
| GRCz11 | 14 | 33999752 |
KASP Assay ID:
554-1499.1 (used for ordering genotyping assays)
KASP Sequence:
GTGTGATCATCCCATACCCGCCAWCAAACCGCTACGAGACGCTGCTGAAA[C/T]AGAGACATGTGCAGGTTTGAGCTAACATTTGAATGGCCAACTCAAAATGT
Long Flanking Sequence:
AGAGAAATTCATTAATCATTTATGCTGTGTGTACATTTGTGCAAAGGATGCTCTATATCAGTTGTGAAAAGATTTTATAATGTGTCAAGACTCAAGAAGTCAAAAAAAAACCTTTATTGCACTTATTATTTATTGTATTGTGCAATGTAGTTTACTTGACTTAGAAAAGCAAAAGTACTTTGTGTCTCATTCTGTGTAATTTAGTCAAACCAATGTTTGTATGGAAGCATTCACCCTTTTTAGCACAGCACTTGCAACAGTTTGTCTTTATTTAACCAAAGTATGAACTAGCCCTACATCTCAATGTTTTTTTCTCTCCTGCTAAGCACAGAAATCAGTCAGCTTGTTTGTAATTTCAGTCTTTAGATTGAATAGAATCGATTGTATGGTTGTTTCTCTCTCACAGTGTCCTCCTAGACAAACGCTTCCGTGCAGAGTGTAAGAATTACGGTGTGATCATCCCATACCCGCCATCAAACCGCTACGAGACGCTGCTGAAA[C/T]AGAGACATGTGCAGGTTTGAGCTAACATTTGAATGGCCAACTCAAAATGTTGGTGAAATAAGAGTTCATAATGATTGCATTTCAGTCTCTCTGTTGTTGTGGCCTTTTAAGTATGGTTCCATTTATGAGTTTTTAATGTAAGGCAACTTTATTGTCACTGAAATTTTTGTGAAGATTAATGTTTAAATCATATTTGTGTTTATCACCTATAGCTGCTGGGTCGCTCCATTGACCTGAACAGATTGATAACCCAGAGGATCTCAGCAGCCATGTACAAATCTCTGGATCAAGCCATCAGCCGTTTTGAGAGCGAGGACCTTACCTCCATAGTGGTGAGAAACTCATCAGTTCTGCTTTTGGAGTTTATCATAAAGTCGCAAACTCAACCATTTTTAATCTATTTAAACATTAGAACACTTTGACATGAAATAAAAGTGTCAAAGAAATATTTTATTTTAACTAAACAGTGTATTGAGCTTTTGGACATATCTGAAAACTTA
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
See FAQs for more info.
| Stage | Entity | Entity | Quality | Tag |
|---|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
larval locomotory behavior GO:0008345 |
disrupted PATO:0001507 |
abnormal PATO:0000460 |
|
| Larval:Day 5 ZFS:0000037 |
swim bladder ZFA:0000076 |
aplastic PATO:0001483 |
abnormal PATO:0000460 |
|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
anterior/posterior axis BSPO:0000013 |
decreased length PATO:0000574 |
abnormal PATO:0000460 |