Busch Lab

ZMP

LOC571865

Ensembl ID:
ENSDARG00000079972
Human Orthologue:
NFATC2
Human Description:
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 [Source:HGNC Symbol;Acc:77
Mouse Orthologue:
Nfatc2
Mouse Description:
nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 Gene [Source:MGI Symbol;Ac

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa20827 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa40804 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa20827
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113805 Essential Splice Site 439 792 4 10
Genomic Location (Zv9):
Chromosome 6 (position 55215483)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 55231796
GRCz11 6 55241609
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAAGATCCTTGAGGTGCCGATGGAACCCAAGGAGAACATGAGAGCTGTG[T/A]AAGAACATTATTATTATCACATTCAGTTCAATTCAGGTTTATTTGTAAAG
Long Flanking Sequence:
TGAGAATTTAACTCAAAACAAACAGGAAGTGCATTTTCAGATTTCAATTTTAGATTACAAGGGCAAACCTTTTTTTAATGACACTGACAGATGAATTGTTCACCACAAAACTAGCAATTCATCCATTCATTCATTCATTTATTCATTCATTTCTTTTTTTTTTCGGCTTAGTCCCTTTATTAATCCGGGGTCGCCACAGCGGAATGTAGTGCCTAAACTTGCAATGAGAGCAAACAAAATCAACAGGGTTAGGCTTGATGTCATGTGAATTTTAACTGTGTTTTGGGCTGTCTCAGTTGCGAGGGTACACCGGGACGGAGCCGCTGGTTCTCCAGATCTTTATTGGCACGGCTGATGACAGGAACCTTAGGCCTCACGCCTTTTACCAGGTCCACCGAATCACCGGCAAGACCGTCACCACCAACAGCCAAGACCGAATGCTGAACGGAACCAAGATCCTTGAGGTGCCGATGGAACCCAAGGAGAACATGAGAGCTGTG[T/A]AAGAACATTATTATTATCACATTCAGTTCAATTCAGGTTTATTTGTAAAGGGCTTTTCACAGTAATTATCCTTACACATGAAGAAGATCGGGTAGCACGGTGGCTCAGTGTTTAGCACTGTCGGCTCATAGCAAGAAGGTTGCGGGTCCCAACGGGTCCAGTTGGCATTTCTGTGGGGAGTTTGCATGTTCTCCCGTGTTGGTGTGGGTTTCCTCCAGGTACTCCGGTTTCCCCCACAGTCCAAACATATGCACTATAGGTAAATTGGATAAACAAAATTGGCCATAGTGTAAAGTATGATTGTGTGTGTGTTTGAATGAGTGTGTATGGATGTTTTCCAGTAGTGGGTTGTGGCTGGAAGGGCATCCGCTGCATAAACATATGCCTGAATAGTTGGTGGTTCAGTCCGCTGTGGCAACCCCTGATTAATAAGGGACTGAGCCAGAATGGTATATGCCAGAAATAAATTAAAGAAGCCCCAGAATAGAGATCTGCGCGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40804
Status:
Mutation detected in F1 DNA
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
ENSDART00000113805 Nonsense 483 792 5 10
Genomic Location (Zv9):
Chromosome 6 (position 55214239)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 55230552
GRCz11 6 55240365
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACCCGTGTGAGATTGGTCTTCCGTGTCCATATTCCTCAACCTGGAGGA[C/T]AGTGGCTTTCTCTCCAAGTGGCCTCGCAGACCATTGAATGCTGTATGCAT
Long Flanking Sequence:
ACACACACATTGACAGCGTCTCCCTCTCTCTTTCATTCACACACACACACACACACACACACACACACAGAGAGAGCACAAAGCTCACACAGACAGCAACAAACAAGCTAAACGGAGCATCATGCTGTCTCTTTCACACATATACATGCGCGTGCTTGCTTGCTCGGGAGTGGGGAGCTAGGAGCGATATTGTGGAACCGCCCGCTTCTGTCCAAAATTAAACCTGTTACCGTCCGCTCCCACGCTTAATTGGAAATTTATTCCCGCGCTACAGAAATGTGGTCGGGTCCTCTCCCCCAGAAAGAATGAAACATGAACAGCATGTGATAAAAGGAAGGTTTACTTGTTAAAAGTCTGTTTTTGTTTATAGAATTGACTGTGCCGGTATTCTGAAGCTGAGGAATGCTGACATCGAGCTGAAGAAAGGAGAGACGGATGTGGGACGGAAAAACACCCGTGTGAGATTGGTCTTCCGTGTCCATATTCCTCAACCTGGAGGA[C/T]AGTGGCTTTCTCTCCAAGTGGCCTCGCAGACCATTGAATGCTGTATGCATTTACATTTTTCAATTAAATCTTACTTAACTCATTGGCCCACATTTTATTGCACTTACTTTTGCATGGAAAGCTTTATAATATTAATGCTCTTATATGTGAATTTTAGATATTTAAATGTAATTATTACATTTAAATAAGTATATAAAGAGTTCAGATGCAAAAACCTCTAAGGCTACGTTCTGAATCAGATTTTTTTTTCTCAGATCAGATTTTTTTGCATGGCTGTTCACATTGTTGACATAAATGTGGCCAATATCAGATTTGCTGTGTGAACAGATCATGGTCCTAAACTGACCCGCATGCGCAAAAGTACAATTACGGACAGCACAAAATGTCTAATTATGCACACAGTGTGTATACAGTATGAAGTAAGCATGTTGTCGGATTATGCTTAATATGATTATTGCCCTTTTCACAGACAGCCGTGGTGTATTTCACGAACTGTGATA
Associated Phenotype:
Not determined