Busch Lab

ZMP

EFHA2 (2 of 2)

Ensembl ID:
ENSDARG00000074255
Description:
EF-hand domain family, member A2 [Source:HGNC Symbol;Acc:27820]
Human Orthologue:
EFHA2
Human Description:
EF-hand domain family, member A2 [Source:HGNC Symbol;Acc:27820]
Mouse Orthologue:
Efha2
Mouse Description:
EF-hand domain family, member A2 Gene [Source:MGI Symbol;Acc:MGI:1925756]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa42406 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6347 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa8466 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42406
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087859 Essential Splice Site 86 438 1 12
Genomic Location (Zv9):
Chromosome 14 (position 31359752)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30149809
GRCz11 14 30490123
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGCGCGCATTGATTTCACCGCTCCCAGCAGTGGCTGCAAAAGAGAAGG[T/C]ATCTACATTTTAGTACATTTTGCGGTGTTGTAGTGTTCACTTTAATATTG
Long Flanking Sequence:
AACCGTAGCTTATTAAACTTGAAAAAAGTAGGCTGCCGTCCAATTTTCAATAGAATCTATGTAAGGCCAGTTTTTAAAAACGTAAAATTAATGTTATTTGAGATCTGAACGGATTAACTATGACCTGAATCGAAAGGACAAATGACTGCAAATACAGCTGCTTCTGCATTCATGTGTTTCAGCGAGGTCACATACAGTATCTCGCGAGGAGTGCGCGCGGTCTGTCAGCCGTCACACAGTCATGATGGCCGCCGTCCGTCGCTTTCTGGGTCTTCGGAGCAAGTTCACCAGCTCTGTAAACGGGTTAAACATTTACTTCAACAGCAGAAATTCACCGAGGGAAAGAGCAGCTCTGAGACGCGTAGGGACAGGGCTGTGTATCGCTCTCGGCGGGTTCGCCTTTGTTTACTACCAGCACAGTTCGAGTCCGGATCGGAGACGCGCAGCGAGTCTGCGCGCATTGATTTCACCGCTCCCAGCAGTGGCTGCAAAAGAGAAGG[T/C]ATCTACATTTTAGTACATTTTGCGGTGTTGTAGTGTTCACTTTAATATTGCTTCATCATCCAGGTTTTTTATTGTGGTTAAAGTCTGAAAATCGTGTCGTTGTTTTGTCATCAAAACAGTCGCTCTCCACCACAGAGGTGCTGAATTCACTGTTTCAGTTCATTTGTCAGGCGATGATGTGTTATGATTCTGTTTAAATTATAATTTCAACCAGTATTATTAACACCATTGTACGTTTTGTGCATGTGATGTTTAGTATTGACTTGGGCTCCAGAAGGGTCATTTTACTAGGCATGCAAATTCAGTCATCAATCCTGAGCTGTCCAGATCTCTACTGGCATTTGTATGTCAACCAGATTTCCATTAGTTTCTGAAACCACAATAGTTCGTCAACTCACAGTGAAGAGTGCTATTTATTACTATTACTGTAATCATTTTATATACTGGAGAAAATAAAAACAATTTTCATTCATGCAAATACACGAATGTGATGCAAATGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6347
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087859 Essential Splice Site 214 438 6 12
Genomic Location (Zv9):
Chromosome 14 (position 31344058)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30134115
GRCz11 14 30474429
KASP Assay ID:
554-4230.1 (used for ordering genotyping assays)
KASP Sequence:
GTTTGATGCGGACGGCAATCAAATGGTGGATAAGAGGGAGTTCATGGTGG[T/C]ATGGCTGTTTTTCTGCCRATGTTTTATTATTAATCTGAATGTCAGCATGT
Long Flanking Sequence:
TATCATTTGCAGATCCTGCCATGTTGTTGACAGACTGACTTAGTCACAGACTGAATTAGTCACATCTTGCATACAATATATATTTGAGCTTTGTGTATAATTTGCAGATCCTGTCACTGAATCATACACATCTTGCACACAAAGGCTAATTGATTGTTTGATATTTTATGTAAAGTATGGTTGAAAATGGGATTTTTTAAAAATTGACACCCCTATTGGATCACAAGCATTGTTTGAGCTCTTGAAAGGAAATGTCTTTGTTGTGTTTTTCAGGTCTCATCGCTTACACAGAGTATCTGTTTCTCCTCTGTATTTTGACAAGTGAGTTTTTGTCGACTTCTTGACACTTGTTTAACACAAACTACAGTCACAGAAAGTGTACATGTGTGTGAAGATGTGTTTCTTTCGTCTTCCAGAGCCGCATGCTGGCTTTAAAATAGCTTTCAACATGTTTGATGCGGACGGCAATCAAATGGTGGATAAGAGGGAGTTCATGGTGG[T/C]ATGGCTGTTTTTCTGCCAATGTTTTATTATTAATCTGAATGTCAGCATGTGTGATAATTAAGTTCTGCTTTTTTCCCTTTAGCTGGAGGAGATATTTCGTAAGAAAAATGAAAAGAGAAAGGAGCGAGGAGGAGATGCTGAGAGTTCATCTCAGCTGGTAAGAAAAACTGGTTCTTCATTTTCAATGTATTTTATTTACAGTCCTAAGTTGCATGCGCATGTTCTTTCTACAGTATGTCATTGCATTTAAAAGGAAATAGTACACCTGAAATAAAGCTGTGGTGAAAAATCATTTGAGAAACTTAATGATTCTGCATCAGTGTTGAGATATTAAAAAAAATTGTGTTTATATTTTCTTTCTTGAATGGATTAGAGAGAGACTAGAGAAAAACTAGGCTAGTTTTCAACCACACTCTTAAAATTCATGTATTTTGGCTTTAAAGGTGCAGTATGTAAGTTTGACTCCCAGTAACGTAACGTGTTGTTAGGACATGGGGTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8466
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087859 Essential Splice Site 239 438 7 12
Genomic Location (Zv9):
Chromosome 14 (position 31343899)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30133956
GRCz11 14 30474270
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGAAAAGAGAAAGGAGCGAGGAGGAGATGCTGAGAGWTCATCTCAGCTGG[T/C]AAGAAAAACTGGTWCKTCATTTTCAATGTATTTTATTTACAGTCCTRAGT
Long Flanking Sequence:
GATATTTTATGTAAAGTATGGTTGAAAATGGGATTTTTTAAAAATTGACACCCCTATTGGATCACAAGCATTGTTTGAGCTCTTGAAAGGAAATGTCTTTGTTGTGTTTTTCAGGTCTCATCGCTTACACAGAGTATCTGTTTCTCCTCTGTATTTTGACAAGTGAGTTTTTGTCGACTTCTTGACACTTGTTTAACACAAACTACAGTCACAGAAAGTGTACATGTGTGTGAAGATGTGTTTCTTTCGTCTTCCAGAGCCGCATGCTGGCTTTAAAATAGCTTTCAACATGTTTGATGCGGACGGCAATCAAATGGTGGATAAGAGGGAGTTCATGGTGGTATGGCTGTTTTTCTGCCAATGTTTTATTATTAATCTGAATGTCAGCATGTGTGATAATTAAGTTCTGCTTTTTTCCCTTTAGCTGGAGGAGATATTTCGTAAGAAAAATGAAAAGAGAAAGGAGCGAGGAGGAGATGCTGAGAGTTCATCTCAGCTGG[T/C]AAGAAAAACTGGTTCTTCATTTTCAATGTATTTTATTTACAGTCCTAAGTTGCATGCGCATGTTCTTTCTACAGTATGTCATTGCATTTAAAAGGAAATAGTACACCTGAAATAAAGCTGTGGTGAAAAATCATTTGAGAAACTTAATGATTCTGCATCAGTGTTGAGATATTAAAAAAAATTGTGTTTATATTTTCTTTCTTGAATGGATTAGAGAGAGACTAGAGAAAAACTAGGCTAGTTTTCAACCACACTCTTAAAATTCATGTATTTTGGCTTTAAAGGTGCAGTATGTAAGTTTGACTCCCAGTAACGTAACGTGTTGTTAGGACATGGGGTTACAATGTAACCTGCTCACCTAATGTTTATGTTCTTAATATTTATATTGTTTGCTAATTAATAACCTTATGTGGAACTCTAAATCTGCATCTCATTTTGGAGGCTGCTACTGTCCACCGAAGGCTGCAATTCAGTCATGGATGCATACTTTGAAAGCCTTT
Associated Phenotype:
Not determined