ZMP
nfatc2ip
Ensembl ID:
ZFIN ID:
Description:
Nfatc2ip protein [Source:UniProtKB/TrEMBL;Acc:Q5BLI6]
Human Orthologue:
NFATC2IP
Human Description:
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein [Sourc
Mouse Orthologue:
Nfatc2ip
Mouse Description:
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein Gene [
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40020 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa38377 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa40020
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 |
|---|---|---|---|---|---|
| ENSDART00000011320 | Essential Splice Site | 11 | 353 | None | 9 |
| ENSDART00000130230 | Essential Splice Site | 33 | 375 | None | 9 |
The following transcripts of ENSDARG00000011360 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 15091625)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 15337231 |
| GRCz11 | 3 | 15487031 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAGCGCGCACGGGAATGAGCCCGCACAAAAGGACTATGGCTGAAACGG[T/C]GAGTTCTCGGTTAAAACAGTTATTCAGTTTTGGTTTTTATTTATTGCTGT
Long Flanking Sequence:
GAGTAAATCCAAGGAATCATCTTTGAATTTTTTTTCAGTGTATTTTAATCTAAAAGATTGTGAAAAGGTAGGAGTGTTTAAATAATGATACAGGTCGAACCAAAATTTCTGAACAAAGTCACACATACAAAATAAATGTATTAAAGTTTCATCATCCTTACCACAAAATGTACAATTACTCGGAATATCAACATATTTGGAAACAAATGAGTTAGTCGGATATATTTTCTGCAATATTTTAAAGTGGCTTTCTTGCGTTCTATTAGGAAGAAAGTATTTATGAGGCAACAACAAAGCTTTTCTCCAGTCTATATTATTGTTTAATGCAGTCCGATGAAATGGACAATACGATTTCTTTGCTGAAGAATTAGATGAATGGGTTTATTATTATATTTTTATCATGAAAGTCGGGAGACTTTTAAGTCCAAATTTGTTCTGTGACGTCACGTCGAGAGCGCGCACGGGAATGAGCCCGCACAAAAGGACTATGGCTGAAACGG[T/C]GAGTTCTCGGTTAAAACAGTTATTCAGTTTTGGTTTTTATTTATTGCTGTTCGTACTCTGTGTTTTAATCTGAAACGTAGTTTAAATAGTTAATTTCAGAACACAACCCTAAATGTTGAGGTCTGTGTAACTATTGTGCGATAGCACGGCAACGTTAGCTAACGTTAATTTAATCAGTCGATTAATGAACAGTAATACAGAAAAAGTAAAATATTATAGATTTTAGTCAAATTAAACTTCTATCTGCTACATTATTTAGCTCATAATCGACGTTATTAGTTTTTTGTAAAGTCAGATTTGGATACGGATGTTCAGGTGTAAGTTAACTTACGTTGTATTCAAAACCTAACGTTAACGTTAAGTTACTTTCAGAAATCTATTTTAACGTCAAGTTATGAAATAACTAGAAGTTAAGTTATTATAAGTAGTTCATCATTATGTCTTTCAAATAGTTTTATGCTTTTTACCGAACAGTTTAACAATTTTACTGTAACAAGTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38377
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 |
|---|---|---|---|---|---|
| ENSDART00000011320 | Nonsense | 131 | 353 | 5 | 9 |
| ENSDART00000130230 | Nonsense | 153 | 375 | 5 | 9 |
The following transcripts of ENSDARG00000011360 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 15085305)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 15330911 |
| GRCz11 | 3 | 15480711 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATGTAGTCCGCCAGTGAAACGGAGCAGGCGGGCCAACCAAAAAATG[C/T]GGTGAGTAATTAAATTAGATTTCTTCATTCAGTCTTTAATGTTCTATTGC
Long Flanking Sequence:
TTTTCATAATTATATTTACTGGGATGATTTTTTTCCTGGAATGCATCTGCATAAAATGTAAACAATTTTACAAAACATATTTGTATATACACACTAAAAAAATTAATTAAAGTAGAGATGAAAAAATCTGCACATTGCGAGACTAATGCTAAAATTATATATTTTGCTGCGCTATTCTGAAGAATGTTGGCCATTGACATCTATAGTAGGAACGAAAAATACTATGGAAGTCGATGGCTGTTTTTTCCTACATTCTTCTGTACATCTTCTCTTGTGTTCATTAGAAAAAAGAAACTTAAACAAGTCAAGGATGAATAAATCATGACAGAACTTTCATTTTTGGGTGAACTGTCCTTTTAAGTGTGAAAATATCTATCTGATGATTAGTAAGCTAAATCATTGTCTAATTCAACTTCAGGGAAATCCTTCGTTCCCCTTCTCCACCTCCTCCACCATGTAGTCCGCCAGTGAAACGGAGCAGGCGGGCCAACCAAAAAATG[C/T]GGTGAGTAATTAAATTAGATTTCTTCATTCAGTCTTTAATGTTCTATTGCTTTAGCGAAGACTAATAATAGCATGCAGTGAACAGCGAGTTAGGCCAGAAATGAGCAATCTGATTTGACATGGTTATTTTACTTCCCATTTCTGTTTTAGAGAAATCAACCGGAAACTGGATGCGATCGGCTCTCTTGTGTGTATGTCTCCTGAGCCTCAAGACCCCGTCGTCGAATACAGAAACTCTCCTTCGCCTGTCAATGACTATGATGATGATGATGACATCATCATCGTTTCATCTAACAGCAAACACAAACGTCGTCCCTGCAATACTGAGGGCAGAGACTCTGCGCGAGAAATTTCATTAAAGTTTCGCTGCCGAACAGAGTTGTTCAAAATCCCAATACTGTCTGTAAGTGGATTTTTTTTTGTTTAATTTGATATGACTTTTACATTATATGACTACATTTTAAAATACATTTTTAACCACAGTGACTTATTAATGAGGG
Associated Phenotype:
Not determined