Busch Lab

ZMP

efcab4a

Ensembl ID:
ENSDARG00000053636
ZFIN ID:
ZDB-GENE-061215-136
Description:
EF-hand calcium-binding domain-containing protein 4A [Source:UniProtKB/Swiss-Prot;Acc:A1A600]
Human Orthologue:
EFCAB4A
Human Description:
EF-hand calcium binding domain 4A [Source:HGNC Symbol;Acc:28703]
Mouse Orthologue:
Efcab4a
Mouse Description:
EF-hand calcium binding domain 4A Gene [Source:MGI Symbol;Acc:MGI:2446129]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa37989 Nonsense Mutation detected in F1 DNA Not yet available
sa44218 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6790 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37989
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075663 Nonsense 22 408 2 10
Genomic Location (Zv9):
Chromosome 25 (position 3912586)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 3730511
GRCz11 25 3856170
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAAGGACGGGGTGGTGCTGGAGGGGACGGGCAGCGGTCAGATGTCCCCC[A/T]GATCCACACTGCGGAGCCCATTGCCCAGTCGCACAGCGAGGTCATCGGCA
Long Flanking Sequence:
AGTCAACAACATAATCGTTTTATGTTTAATCCACTTAAATTTGTTAAATTAACTTAATCGATTTGTGTTGGGACAACCTGAATAAATTGTGCCGAACCTTGCATTTGTGTACAGTGTATTATTAGCCAGTTAGCACTGTAAATTATTATTAAAGCAACACATCTACATGTATTTGAGGAGTTTCAAGCTCTTCATCCAAAATTTACGCACTTTTTCAAACGGGTAAAATTCAAGGATTTCCAGCACCCGTATAATCCCTTAGCTGTAATGGAAAGAAAACAGAAATCCAGACTAGCAGAATGTTTTGCTATGTATCACTTGTCAGACTCAAGGCTGATTGGGGCAAGAACTGCCAGATAAGACTGTTTTCTTATGCTTTGACCTGGTTTGACCATCTCTTATCTTGATTTGGCTGTGCTGTGTGTCTTTCTGCAGTTATGTCGGGCTGGCTGAAGGACGGGGTGGTGCTGGAGGGGACGGGCAGCGGTCAGATGTCCCCC[A/T]GATCCACACTGCGGAGCCCATTGCCCAGTCGCACAGCGAGGTCATCGGCATCCAGCGATACTCCGTCTCCTGGAGCAGACAGACAGGACAGAATGAGCAAAGCTAAAGAGCTCTTTGTGCTCTGCGATAAAGAGGGGAAAGGATTCATCACAAAGAGAGACATGCAGGTAAGAAGACATTAGATGATGATGATGATGATGATGATTATGGTTTCAAAGCAATGAAAAGTTCTGCTCAGCATGTACAATAAACTGAAAATGGAATAATGATTTTGCTTTATTGAAGACCAATTATTTTTCAAATATTTACCAAGTTATGTTTAATTAACCCAAGTCATTTTTCACTGTATTTTACATTTACATACATTTAATAGCCACTTTATTAGGTACACCTTACTAGTACTGGGTTGGACCCCCTTTTGCCTTCAGAACTGCCTTAATCCTTCATGGCATAGATTCAACAAGGTTCTGGAAATATTCGTCAGAGATTTTGCTCCATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44218
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075663 Essential Splice Site 160 408 5 10
Genomic Location (Zv9):
Chromosome 25 (position 3907830)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 3725755
GRCz11 25 3851414
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCTCCAATGATAGTGATTTGTTTGTTGGTCATGTGTCTTCGTTTGTCA[G/A]TCAGTGGGAGTTGTGTGGTCTGTGGTGTGAGCTGCAGAGGGACAAACCTG
Long Flanking Sequence:
CTTCAAAGAGCCTAGCAACCACTCAGAGCATTTTAACAACTTCCTGTAAACAAATTGGAACATTTTTTGCTGCATATCAATGCCCTAGCAACTACTCTGCATCCTAACACCGCATTAAACGCCCAGAATACTTCAGTACTTGCACCCTAGCAACACCTCGGAGCGTATTTACAACCTGTCAGCCACCAAGAACACTTCAGTAACTGCTAGTCAGTTGCTAAGGTGCTTCCAGGATGTTGCTAGGCAATCACTATAAAAATGTTCTAGTTTGTTGACCGGGAGTTCATGAAATGCTTTGCAACACCTTAGAAAAAGCCTAGCAACCACTCAAAGCATCTTAACATCACCTTGACAACCACATAAACCCTGCTTAACGACAGCCTAGCAACCATTCACCATCTGATCACTCTATCCTAAAGTTCTTAAATGCCTAACTGTGTTTATTTCAGCTGTCTCCAATGATAGTGATTTGTTTGTTGGTCATGTGTCTTCGTTTGTCA[G/A]TCAGTGGGAGTTGTGTGGTCTGTGGTGTGAGCTGCAGAGGGACAAACCTGAGCTGCTGGGTGTGTTGGAGGAGGTCCTGTCCTATACAGTGTCTCATCTTCAGGACGCACTCAAAGAGAAAGACAATCTAGAGCATGCGTTGCGCAGGTCAGCCCTCACTGCACTCGTCTTTTTGTCAAATAAACCCGTTTATGTGCTAAGAGTACTCGATGTCCTGCAGGAGAGAGGAGGATCACGACAGAGTGGTTCGGTCCATGTATGAAGACATGGAGAGTCAGTTAAAAGAAGAGAGGGAGAGAAGACGAGCTCTGGTAAACAAACACACACACTGTGAATGTGACATACATTTTCAAGTTAAGGTGGCATGGTGGATCAGTGGTTAGCTCTGTCGCATCACAGCAAGAAGATTGCTGGTTCGAGTCCCAGAACTATGAATCAGATTAGACCATTAGCATCTAGTTGATGTATAGTTAGTTATTCTTAATAATATCTTTGTGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6790
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
ENSDART00000075663 Essential Splice Site 358 408 9 10
Genomic Location (Zv9):
Chromosome 25 (position 3903300)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 3721225
GRCz11 25 3846884
KASP Assay ID:
554-5288.1 (used for ordering genotyping assays)
KASP Sequence:
ACATGCAGAAGGAGCGGGAAAGCCTYGTSAGACAGYTGGAGCTGCTCCGG[T/C]AAGTTTGACCAGACTAACCKGATCACAYCTTGAGTTTATAACAGGATGAG
Long Flanking Sequence:
TGTTTTATGCTAAGCTTAGCTAAAAGTGCTCCTGTCAGACTCGGCGATGACTGAACGGATTCAAAAGCTCCATTGTTTAACTCTAGGGCAGCTGTAAAATTAACCTATATCCAAAAAAAAAGTGGAGTGTTCCTTTTCTTATTTTATGGAAAATAAAACCATAAATTAACAATTGACAAAAAAATAAGTCAGGCACTGCTAATCAGATGCATGAATTGTTTGGCAGAAGTTTCATTAGTTTGTTGGTCTGGAGCTTCAGGCGTGTGTGAACACACAATGTACGTCCTACAGTTTTATCATGGAACCATCAATGCCAATAAAGAATCTTTAATTGCAGTTATAAAAAGTACTATTACAGTGATAAAGAGAAACAAACATTTGCTGCTCCTGTAACATGCTCATGTGTTTTCCTGTTTGACTGCTACAGAGAAGTCCTGAAAGTGTCCCGAAACATGCAGAAGGAGCGGGAAAGCCTCGTCAGACAGCTGGAGCTGCTCCGG[T/C]AAGTTTGACCAGACTAACCTGATCACACCTTGAGTTTATAACAGGATGAGTGTTTAAACATAGGTGTGTGTGTGTGTATGTGTGTATTATTCTTATCTGAAAGATAAGGCCATAAGAACTGACCAATCCGATCACAAAAGGAACAGATGCAGGATTGAGATGGTTGATCGGTCATTAGTCCATATTTTCGATAACTCAAATTATCATCTATAACTCTGAGCCTTTATTAGTACTGTGACTAGTTGCGTTTTTGAAATTACCATAAAAATTATTATTTTATTTAAATGAATGAAATTGTATTATTCATTTAGTAAATGTATTATTCATTTTGTAAATAATAAACTATGATGTGGCAATAATAATAATAATAATAATAATAATAATAGTAATAATTATAATTATAATAATTATTATTATTATTTATTTATTTATCTAGTTATTTATTTATTAATTTATTTATTAATTTATTTTTTTTACCAAAATGAATAATACATTAACTA
Associated Phenotype:
Not determined