ZMP
NFAT5 (1 of 2)
Ensembl ID:
Description:
nuclear factor of activated T-cells 5, tonicity-responsive [Source:HGNC Symbol;Acc:7774]
Human Orthologue:
NFAT5
Human Description:
nuclear factor of activated T-cells 5, tonicity-responsive [Source:HGNC Symbol;Acc:7774]
Mouse Orthologue:
Nfat5
Mouse Description:
nuclear factor of activated T-cells 5 Gene [Source:MGI Symbol;Acc:MGI:1859333]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24800 | Nonsense | Available for shipment | Available now |
sa24801 | Nonsense | Available for shipment | Available now |
sa38182 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa24800
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 |
---|---|---|---|---|---|
ENSDART00000003603 | Nonsense | 100 | 1093 | 1 | 12 |
Genomic Location (Zv9):
Chromosome Zv9_NA324 (position 30667)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 67180195 |
GRCz11 | 7 | 67403843 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGTTTCTGCGGAAGAGGCCAGCATGGATGTCTTTGATGCAGACAGTGCC[A/T]AAGGCCCGCACTTTGTGCTCTCACAACTCGGCCCAGACAGCAAGACCTGT
Long Flanking Sequence:
TTATTGACTGTCTGATTGTACGCACTACAGATGCCTCGTCCGCCTCTTCTGCTATGAGCTCTGGAAGTCCTCGCAGTGCTTTTCCCACCTCAGCGTCAGATCGAAGCACCGTACACGACAGCGGCTCATCAGGAGATGTCAGCAGTCGAAGGAAATCGGAGGCTGTGGAAAACAAACCCTCTGGTCGAGATAAAGGTGTCCAGCAGACCCAGATGACCCCCTCCAAACGGCCTGTCCTCAACATCTCGCCTCCACCCGAAGACCTGTTCGATGACAGCCACATGTCCTGCCAGGATGATCTGCTTCTCGACTCGGAGCAAAGCAGCAGCATCTGGATTGAAAACTCAGTGTCTAACTTCAGCATTGTGAGCTCTAGTTCCTACAACGACAACACTGAAGTGCCCCGCAAGGCCCGCAAATGTACCCCGCGACAGAAGCCTGGGCCGAAGCCGGTTTCTGCGGAAGAGGCCAGCATGGATGTCTTTGATGCAGACAGTGCC[A/T]AAGGCCCGCACTTTGTGCTCTCACAACTCGGCCCAGACAGCAAGACCTGTTCCAAAGCAAGGTGAGCCATTGAGTACCATGTTGTAAAAAGAAGTCTCTGATGTTTCAAGAGTGTACATATGAAGTTTCAGCTCAAAATGCCCTACAGATCTTTTCGTAACTGCTCCTTTTAGGCATTAATCTGAACTGTGCCATTTTTTTTGACTGTTGCTTTAAATTCAAATGAGATTGAGCTCATTTGAAATTGTGTCAGCATAGTGGCAGTTTCAAAACAGGATTGATATTATCTCTGTGAATAATGAAAAGTGTCAATAGAAGTGTCCCACAAGAAGGTAATTTTTGGAGACTACGGTGTTCATTTGTGCATCTTAAAACTCAACTTTTGTTATGCCTCTTAGGGTGCTTTCACATCTGTAGTTCACTTCATTTGGTCCACACCAAGGGTATTAAATGATACATTGTTGCATTTTCTGCCGTCTTTGGGTCGTTTTCACACCACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24801
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 |
---|---|---|---|---|---|
ENSDART00000003603 | Nonsense | 333 | 1093 | 5 | 12 |
Genomic Location (Zv9):
Chromosome Zv9_NA324 (position 43787)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 67193314 |
GRCz11 | 7 | 67416962 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTACACAGCTGTTCGGTTAAAGGGGGGAATGAAGTCTTTATCATTGGA[A/T]AAAACTTTCTGAAAGGAACCAAGGTCATATTTCAGGAGAACGCTTCAGGT
Long Flanking Sequence:
GCACTTTGAAATGTTGCCTTCTGAAAGTGAAATGAACCACAAATAAAATGCAACAATGTCATAATTGAAGTCCTGTTGTGGAACAAAGCAAACAATCTACGTATCTGAAAATGTCCTACGACAGAGATGTAACATAGCCTTAACAGGAAGAATTACGCACTTGCCTAATTTTCTAGGTAAACGCACTGCTGGTTATGCATTACTAACATAATACCAGTTGCTTTTCCTGGTATTCCTGTTTGGATGCAAAACAAAATTAACCTTTTTTTCTGGTGATACATGGATGTGTTGGCCCACACGTAATGTGCGGAAACTAAATATATAGTCACGGTCTGCTGCACAGGAACATTGTTACCTGGTTGTCTAATAGTCTCTTTCTCTGTCTTCCTCCGATTGGCTTGATTTTTTTTATAGCCCAGCCTGCAGGAGCACCTGAGATTCTCAAGAAGAGTTTACACAGCTGTTCGGTTAAAGGGGGGAATGAAGTCTTTATCATTGGA[A/T]AAAACTTTCTGAAAGGAACCAAGGTCATATTTCAGGAGAACGCTTCAGGTATCTTTACATGTGAAAACGTTCCATGTTGCTTTGGCTAGCTCTTGCACTGTTTAACCTCTGGCTGTTTGATTGTAGCAGATGATAAGTCCTGGAAGGCAGAGGCTGACATTGACATGGAGTTTTTCCATCAGGTAAGCCATAGCATCTGCTCTGTTTATTATTTGACTGTGTGGGATGAGCAAGCGCTGTAAAAATAGAGGCAGATTTACACAGGTCACAGATATCTGTGTCCTCAATTGTTGCCTGACATTAATTTAGAAAAAAACTGCAGAATGTTGACCTAGATACACAAAGATTCATAATAAAGAAGTTATTTTTGAGTGACTGTTTTGAATATGTCAGATTTTAGAAAGAATTAATGCAATAAGGATTGCACATTTTGAAAGTGCTGTGTATTGTATGGCCTGACATAGCAATTTGATTGCAGGTAATTTTGCTTTATCGTGTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38182
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 |
---|---|---|---|---|---|
ENSDART00000003603 | Nonsense | 1020 | 1093 | 12 | 12 |
Genomic Location (Zv9):
Chromosome Zv9_NA324 (position 46908)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 67196434 |
GRCz11 | 7 | 67420082 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTATATTTTAAAACTCATTCTAATGATTTTATTTTTTGCAGAGTGCCGT[C/T]AACTCATGAACAGCCAAGGATCTACACTGTCTAATCAAATAATTACCATC
Long Flanking Sequence:
GTCAGAGCAACAGAACACTCCCCTTCCCTTCGCTCAGGCTGGTCTGGTCACCGTGAGGCAGCAGGAGGCATCTGAACCAATGACATTTCAGGATCAGACAGCAATGGTGGTCAACCTGTCATCAAATAAGCCCATCTTCCAAGACCAGCAGCCAATGCAGTTGGCACCAAGTTCTAATCCAGGCTCTTCACAGTCTGTAAATCTTTTCATGGCACAGTCCAACATGCAAGGGGGGATGACTACACAAGAAGCTCTTTTTGCACCACAAGGAGATGTAGGTGGCATTCAGACAAGCACTTCCTCTCCAGTGCAACAGCCTGGTCAACTCTTTCAGACCACAATGAGTGGGAGTCTCAACCAGCCCAACCAGGATCAGCAGACAGACCTATTCCTCTTCGAGATCCAGAATGGTTAGGCAATATTCTTGAACATGCTTGCCTGTTTACAAGTCTTATATTTTAAAACTCATTCTAATGATTTTATTTTTTGCAGAGTGCCGT[C/T]AACTCATGAACAGCCAAGGATCTACACTGTCTAATCAAATAATTACCATCAATCAGCCTGGACAGAGTCAGCAAGAGAGTGATGGGCAAATCCAGTCTTTACTTGGGCAGGCTATGCCAGACCCTGGAGCTGTGCAGAGTACCTTGACAACCTCTCAGAACATGGAGAAAATTGATGACCTTCTGGTGAGCCTTCAGGAGCAAGGCAATAACATCTCCCATTCCTACTAGGGCCTTCAAGGAGTAGCTGCCTGATATTTCTATTTCATAATTGACTATAGCAGGGATGTCAGAAGTACCGACTTTGATACCAATCTGTACTGAAATTTAAAATATGTGGTGATATCAAAGTACTTCCCTTTGCATTTTGAGTGCTGCTAAGTGGATCCATGAACACCAGTGATTGTTTAATGTTTATGCACTCGAGAGATTTGATTGACTACAATGATCATCGCTTGATGCTCTTCACCATGCGTTTAAGCCATGTTCACTCTTCCAGCG
Associated Phenotype:
Not determined