ZMP
efha2
Ensembl ID:
ZFIN ID:
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 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa32633 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa7356 | Missense | Mutation detected in F1 DNA | Not yet available |
| sa32634 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa24836 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa45070 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32633
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113266 | Nonsense | 79 | 503 | 1 | 15 |
Genomic Location (Zv9):
Chromosome 1 (position 15139157)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15704325 |
| GRCz11 | 1 | 16397262 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGCGGTGTTGTATTATTATTATTCAGAAATGTGCGGATTTGGAGGGAGG[A/T]AAGCCCCGATAAACCGAACAGTCTGTCGGGCTCTGCTGCCTTCACTGCCC
Long Flanking Sequence:
ATTATATATAATTATATGTATAAAAAAACACCATATCCTTTTGATTTGACTTCTTTTTGGTGGGTTCAAGTTTGACCCGCCCAATCATATCCCATAATTACCAGTACACATGTGCGCTGGCAAGCGTTTTCATTTATCCGGAGTGCGTAAACGTGCGCATTTTTCACATGTATGTTTACGAGCAGCGCACAGATGCGTGCAGGACCTGCTGCTGCTCCGTTCAGGGTGATCCCGGAGAGGGAGCAGCAACATCTCGCGATGAATGCATGAGAATTCGAGAATATTGTGCAAATTCTGTCATACCAACAATAATGGCCGCTGTGCGCAGAGTCATATTTAAGAGTTTGTCGCTCTCTTTAGCTGCACGGAACGCGCTTTTTCGCTCTCCGGTGAAGGATAAACGATGCACACGCACAGGACTAGCAGTTGCAGTGGGCGTCGCGGCCGGAGGAGCGGTGTTGTATTATTATTATTCAGAAATGTGCGGATTTGGAGGGAGG[A/T]AAGCCCCGATAAACCGAACAGTCTGTCGGGCTCTGCTGCCTTCACTGCCCGCTGTAGCCGCAAAGGAGAAGGTATGACTGTACCCAGTGTTCTCAGTGCCACGTAATACTGCTTCTTATTAGAGGTTGTATTTTCCTGACAGTGGTTTATTGGTATCCACTGCAAGTAGGACAGCTTTGAAAACTGTTTTAATGCTGTAGAGTTTTGTGAATTGTCCCAATGTCCCATTGGGATAATTTCCAATGCACCTAGACTATGACAATGCGCATTTGTGTGATGCTGCAGGAAAAAGGCGCTTTCCTCGGTCATGGTGCTGAAATGACTGAGCTGTTTCAGATCACATGAGCAAATCGTTACGGTTGGTTAAAAAAAGTTGTGCACTTATCTGTGCTGTATCACAGAGGCCCGTCAAACAGTAACCTGTGCGCTGTCATATAGTAGCATAGAATTCTTTGGCGCGTGCGTATAAACAGATTTTTTTTTGTCAGTTTGGCAGACGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7356
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:
A > T
Consequence:
Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113266 | Missense | 226 | 503 | 6 | 15 |
Genomic Location (Zv9):
Chromosome 1 (position 15164563)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15729731 |
| GRCz11 | 1 | 16422668 |
KASP Assay ID:
554-4148.1 (used for ordering genotyping assays)
KASP Sequence:
TTTTAAAATTGCCTTTAACATGTTTGACGCTGATGGTAACCAGATGGTGG[A/T]TAAACGAGAATTTATGGTGGTGAGTGGATAAAGTGKAGATTTWAAGTCAT
Long Flanking Sequence:
CATATTATTTTACCATTTGTACACCAATATAATTAGTGAATGTGCGTGTCCGTGGATGGTGCTGTGTCAGGTGGGCTGGTGTGGCTACAGTGCCAGGGCTGATTTTTAGTTCTAGTCCGTCCCTGGCACACATTATAAACAGAAATGCACTGTCTCTCTTCTGCTGTTACTTGGGCAACACAACATTGGGGACACATGAGGCTCTTTAAAAACACCTGAAGAGAGTGATGAAAGGAAGAGCGCTGAAAGCAAAAGTGGATTGCAAGTTCTTCTTACAGCTTCTTACAAATGTGGGCTTCAGATCTGATCTCTGATTTAGCCACCTAGTGGTTGAATGTTGCAAAAATGCTGGTCATTAATGAGCAAACGCATTTATATGTTCTGCTGCTTTATTACATGCATGATCATTTAACATACTTTTCACATCTGTTCTTCAGAACCTCATGCTGGTTTTAAAATTGCCTTTAACATGTTTGACGCTGATGGTAACCAGATGGTGG[A/T]TAAACGAGAATTTATGGTGGTGAGTGGATAAAGTGTAGATTTAAAGTCATTTAATTATTGAACTGATCGATGTTATTTATTTCCTTCAATCATCCTTTGTCTTTTGTAGTTGCAAGAAATCTTCAGAAAGAAAAACGAGAAAAAGGGAAGGAAAGGAGATGCTGAGAAATCTGCTCAACTTGTAAGTCAATATCAGATACTTTTTATGTAATAACGTAATCGGTTTATCCATTCCAGTTTTTCCAAACAATACATTTAAATGGACTGTTAACAATTTTCTTTAGAATTTACAATAACTTACTGGCAGCAGTTCGCTGGTAAATACAGTAAATCAATTACATCAAATATACTGTGTTTACATTTAGAACACCTTTTATCTGTCAATATATGGATTTACAGTATTGTATATTGTAACTGTAAAATATACAGTAATTTTCACAATGCGCTTGAAATACAGTAACATATCGCATAACTGCCCTACAGTAAAATATAGTTCACAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32634
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113266 | Essential Splice Site | 334 | 503 | 10 | 15 |
Genomic Location (Zv9):
Chromosome 1 (position 15182831)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15747999 |
| GRCz11 | 1 | 16440936 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTTGGCAAGAAGGGGAAGGCGGAGCTAACGTTTGACGACTTTTACAG[G/A]TATGACTGATTGAGCACTGAAAACATGGCACTTATTCATCTCTGCTTGAC
Long Flanking Sequence:
TCACTACACATAAGCGGGTTCCAAAAAGTTAGTTTGAAGTACATTTGGTGGTAATAAAATGGACCAGTTGTAAACAGCGGCTTTATATGTACACAACTGGCATGCTTGTGTGCATTTGTGTGTATCATTTCTCTTGTGTTTCCGTTTCAGTCTAACACAATTTTTATGCCATTCTATCTACTGATGGTATAAAGATCTGCACGTCTACTCTGAACATGTTCTCTGTGGGCTTCAGGGGGGACGAGATAAATGGATGCACACTTTCAGGCACTGGATGGCTGGTACTCTGAATGGCTCGGCAAGACTGAGATGGACTGCTTTGTCATTCCAAAGACATCTGGATTTCTGTCATAGTTTGTTCTCTCTTGTTTTGCTCTCTTTACCACCACTCCTCACCGATGGCAGCGTGCCGATGAGAACATGATGATTGACACCACTCTGCTTGTGCACTTCTTTGGCAAGAAGGGGAAGGCGGAGCTAACGTTTGACGACTTTTACAG[G/A]TATGACTGATTGAGCACTGAAAACATGGCACTTATTCATCTCTGCTTGACATGGATGGATACACAAGATGTAATGTCTTTCGAGATGTTAGTTAACTGCTTGTTCTAACAGGATGTGACATGATAAAATGTCAAACCTGCAGAAGTGTTGGATGTTTTTTTGTGTAATTCTTAAATCCTAACCAGGGCTACATGTATTTATTCAAAAATAATGTCAAATATTAATATTGAGTGACAGCATTAATATTCAGAATAGCTATTTTTATAAAAAGAATTTATTCCTGTGATAACAACGCTACATATTCAGCATTATTACTTTTTTAGTGTCATGTGATCTTTCAGAAGTCATTCTAATGTGCTTTTTATGGTGATTATTTATGATATTGAAACATTCGCTTAATAAATGTACGGGGGGGGGTAAGTATTCAAATCGTCATCATTTTTCTTAGAAAACATATTTCTAAAGGTACTGTTGACTCAAAATTTTCAACAGATGTTGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24836
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 |
|---|---|---|---|---|---|
| ENSDART00000113266 | Nonsense | 427 | 503 | 12 | 15 |
Genomic Location (Zv9):
Chromosome 1 (position 15194797)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15759965 |
| GRCz11 | 1 | 16452902 |
KASP Assay ID:
554-7463.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTCGCCATTGCCATGCAGATGTACAACTTTGCCTGCCGTTCCATTGGA[C/T]AAGGTCAAATACTTCATTTGAATACATGTATAAAATACATAGTGTGATAC
Long Flanking Sequence:
AAATTGTGAGGTGTCTCAGTGATGGCAGTCTATGATGTCATGCAGTTTGTTTTCGCTCGTCTGCATTCAGAGCGGCTGACAATTTGATGACATTGTGCCATAAAATGACTCATTCCTTTCATCGTTGCACGTATCATTACACATGACACAATGAGCTGAACGCATCAGCAAACAAGCATGAGTTGCACAGCTTCTGATTTCTGTCGCACAAACCAGAATGTTGATTTCTTTTCATCCATTTGTCTGTTCAGTGTTGATTCGCTTGTATGAAATGTGTTTATTATGCGTGAGGTCAGCGATGTCACAGATTCTCTTGAATGTAATGACAACTTTTGATGTCTCAGATTAAAGCTTTGTGTCTTTTTTTTTATTTATTTCATTCTTTTCATGATCAGGGCATCACCTTCGAGGAGTTCAGGTCTTTCTTTCAGTTTCTTAATAATCTGGAAGACTTCGCCATTGCCATGCAGATGTACAACTTTGCCTGCCGTTCCATTGGA[C/T]AAGGTCAAATACTTCATTTGAATACATGTATAAAATACATAGTGTGATACAAAGGTCATGAGCCCAAAACAGTGGATGTGAAAAAATATAATTGTCCGATTAAAAATTTCAGAATATTTATAGCAGTTTTCAATGTTTCTCTTATGAAAGATAAATAAATATTGCAAATGTGTTTAAAATATCTTAAAAATGTGGATATAATATGTTTTGCTGTCATGATAATGTAGTACATTTTATTTAATAAATTCTACAAGTATTTATTTCTTTATGAAAATACTAATTTCTGAATAATGAAAAAACCTTTGAAAAGTACTTTTATTTCTATATTTTAAATGTACAATGACTATTGAGAAAACCCAAGATGAGCTTGTCATGTTAAATGAAATAAGCATGTCAAGTTGAGTAAGCCATTTGACTATGCTTTTGTAAAAAATATATATGTTTTTGATTTTGATGTGTTGTTTTTTTTTTCAGATGAGTTTGCTCGGGCTGTGTATGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45070
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113266 | Essential Splice Site | 427 | 503 | 12 | 15 |
Genomic Location (Zv9):
Chromosome 1 (position 15194801)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15759969 |
| GRCz11 | 1 | 16452906 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCCATTGCCATGCAGATGTACAACTTTGCCTGCCGTTCCATTGGACAAG[G/A]TCAAATACTTCATTTGAATACATGTATAAAATACATAGTGTGATACAAAG
Long Flanking Sequence:
TGTGAGGTGTCTCAGTGATGGCAGTCTATGATGTCATGCAGTTTGTTTTCGCTCGTCTGCATTCAGAGCGGCTGACAATTTGATGACATTGTGCCATAAAATGACTCATTCCTTTCATCGTTGCACGTATCATTACACATGACACAATGAGCTGAACGCATCAGCAAACAAGCATGAGTTGCACAGCTTCTGATTTCTGTCGCACAAACCAGAATGTTGATTTCTTTTCATCCATTTGTCTGTTCAGTGTTGATTCGCTTGTATGAAATGTGTTTATTATGCGTGAGGTCAGCGATGTCACAGATTCTCTTGAATGTAATGACAACTTTTGATGTCTCAGATTAAAGCTTTGTGTCTTTTTTTTTATTTATTTCATTCTTTTCATGATCAGGGCATCACCTTCGAGGAGTTCAGGTCTTTCTTTCAGTTTCTTAATAATCTGGAAGACTTCGCCATTGCCATGCAGATGTACAACTTTGCCTGCCGTTCCATTGGACAAG[G/A]TCAAATACTTCATTTGAATACATGTATAAAATACATAGTGTGATACAAAGGTCATGAGCCCAAAACAGTGGATGTGAAAAAATATAATTGTCCGATTAAAAATTTCAGAATATTTATAGCAGTTTTCAATGTTTCTCTTATGAAAGATAAATAAATATTGCAAATGTGTTTAAAATATCTTAAAAATGTGGATATAATATGTTTTGCTGTCATGATAATGTAGTACATTTTATTTAATAAATTCTACAAGTATTTATTTCTTTATGAAAATACTAATTTCTGAATAATGAAAAAACCTTTGAAAAGTACTTTTATTTCTATATTTTAAATGTACAATGACTATTGAGAAAACCCAAGATGAGCTTGTCATGTTAAATGAAATAAGCATGTCAAGTTGAGTAAGCCATTTGACTATGCTTTTGTAAAAAATATATATGTTTTTGATTTTGATGTGTTGTTTTTTTTTTCAGATGAGTTTGCTCGGGCTGTGTATGTGGCAA
Associated Phenotype:
Not determined