Busch Lab

ZMP

efhc2

Ensembl ID:
ENSDARG00000004204
ZFIN ID:
ZDB-GENE-031001-10
Description:
EF-hand domain-containing family member C2 [Source:UniProtKB/Swiss-Prot;Acc:Q32TF8]
Human Orthologue:
EFHC2
Human Description:
EF-hand domain (C-terminal) containing 2 [Source:HGNC Symbol;Acc:26233]
Mouse Orthologue:
Efhc2
Mouse Description:
EF-hand domain (C-terminal) containing 2 Gene [Source:MGI Symbol;Acc:MGI:1921655]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa41465 Nonsense Mutation detected in F1 DNA Not yet available
sa21529 Nonsense Available for shipment Available now
sa31733 Nonsense Available for shipment Available now
sa45363 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa41465
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
ENSDART00000008737 Nonsense 22 748 2 15
ENSDART00000142788 Nonsense 22 345 2 15
Genomic Location (Zv9):
Chromosome 9 (position 34739038)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 33972066
GRCz11 9 33781251
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACAATAATGAAAACAAATCTCTTTCCAGCTTGGAAAAGACAAATTTCAC[A/T]AGTCTCAGCATTTTGATTATTCAAATGGAGTAGCTATGATGGTTGGGACA
Long Flanking Sequence:
GGCGTTACCAATGCTGCCTGGAAATTCAGTCAACAGAAACGTAAGTAATATCAGAAATCTAAAATAAATTCCTGTTATAAAAAGCCTTGTAGGACATTTCTAAGCTAACTTACATTGGTGCAAGAGCAAAAGTGCAATTTATCCTTTCGAAAGCACTTAATATAACGTTATGCGTTAACGTTATTATTTATGATTCAATATAAGTTAACTTTAAGCACAGTTTCGACGTCAGGTGCGATAAAAGTGGTCAGAGAAAATGACGATTTACCTTTTTGAACATACCATTGAACGAGATGGATAAAAAAAATGTAACTTATGTGTTTATTACACATTATGCATTAGTTCATTTGTTAGTAAGTAGGCAGTTCAATTGTTTAAACCACTAAAAGCAAATGAAGGAAACTGATCTAATATAATAACAGGTTAAATGGTCTGATATAGTTTGTCTTACACAATAATGAAAACAAATCTCTTTCCAGCTTGGAAAAGACAAATTTCAC[A/T]AGTCTCAGCATTTTGATTATTCAAATGGAGTAGCTATGATGGTTGGGACAGAGAAGCCGGGCATTGGAGGAGATCTGCTCCTGGGACAGAGTGCAAGAGCCAAATATTCACGGTTTCCAAAAGGAGAGGGCAGTGGTGCTCCAGCATGGCTTGCCTTTGACAAACAGGTTTTTCATCATATAAGAATATAATATACCTATTTTTTCACCTAGTGCTTGGCAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTGTTTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATATAGAGTACGAAAGTGCAAGATTTACTTCTACCTGGAGGATGACACCATACAAGTGGTGGAGCCAGAGTTCAAAAACAGTGGCATCCCACAAGGTGAACCATCAGAATCAAACATTTAGTTTCCAGATTAATGACAAACCAGTTAAAAACATCTTGTCTAAATTCAGCTGTTCTTCTTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21529
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008737 Nonsense 80 748 3 15
ENSDART00000142788 Nonsense 80 345 3 15
ENSDART00000008737 Nonsense 80 748 3 15
ENSDART00000142788 Nonsense 80 345 3 15
Genomic Location (Zv9):
Chromosome 9 (position 34738768)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 33971796
GRCz11 9 33780981
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATA
Long Flanking Sequence:
TTTTGAACATACCATTGAACGAGATGGATAAAAAAAATGTAACTTATGTGTTTATTACACATTATGCATTAGTTCATTTGTTAGTAAGTAGGCAGTTCAATTGTTTAAACCACTAAAAGCAAATGAAGGAAACTGATCTAATATAATAACAGGTTAAATGGTCTGATATAGTTTGTCTTACACAATAATGAAAACAAATCTCTTTCCAGCTTGGAAAAGACAAATTTCACAAGTCTCAGCATTTTGATTATTCAAATGGAGTAGCTATGATGGTTGGGACAGAGAAGCCGGGCATTGGAGGAGATCTGCTCCTGGGACAGAGTGCAAGAGCCAAATATTCACGGTTTCCAAAAGGAGAGGGCAGTGGTGCTCCAGCATGGCTTGCCTTTGACAAACAGGTTTTTCATCATATAAGAATATAATATACCTATTTTTTCACCTAGTGCTTGGCAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATATAGAGTACGAAAGTGCAAGATTTACTTCTACCTGGAGGATGACACCATACAAGTGGTGGAGCCAGAGTTCAAAAACAGTGGCATCCCACAAGGTGAACCATCAGAATCAAACATTTAGTTTCCAGATTAATGACAAACCAGTTAAAAACATCTTGTCTAAATTCAGCTGTTCTTCTTCTGTACAGGAACCCTGATTCGGCGCCACCGCATTCCTCTACCAGCTCCTAAAGATGATTGTTTCTACAATGTGCACCATTTCAACATCAACCAGGAAGTCGTGTTTTATTCCAGAAACTTTATGATCACAGACTGTGACCCTTTCACTCGCAACTTTTTGATAAAAATGGGAGTCCGACTGAATCCTCCTGCTTCCACACCAGCGGATCCCTATACTACCCTTCGACAAGAGGCAAGTGAGCACCAGGGATCTAAATAGCAATATCAGAACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31733
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008737 Nonsense 80 748 3 15
ENSDART00000142788 Nonsense 80 345 3 15
ENSDART00000008737 Nonsense 80 748 3 15
ENSDART00000142788 Nonsense 80 345 3 15
Genomic Location (Zv9):
Chromosome 9 (position 34738768)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 33971796
GRCz11 9 33780981
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATA
Long Flanking Sequence:
TTTTGAACATACCATTGAACGAGATGGATAAAAAAAATGTAACTTATGTGTTTATTACACATTATGCATTAGTTCATTTGTTAGTAAGTAGGCAGTTCAATTGTTTAAACCACTAAAAGCAAATGAAGGAAACTGATCTAATATAATAACAGGTTAAATGGTCTGATATAGTTTGTCTTACACAATAATGAAAACAAATCTCTTTCCAGCTTGGAAAAGACAAATTTCACAAGTCTCAGCATTTTGATTATTCAAATGGAGTAGCTATGATGGTTGGGACAGAGAAGCCGGGCATTGGAGGAGATCTGCTCCTGGGACAGAGTGCAAGAGCCAAATATTCACGGTTTCCAAAAGGAGAGGGCAGTGGTGCTCCAGCATGGCTTGCCTTTGACAAACAGGTTTTTCATCATATAAGAATATAATATACCTATTTTTTCACCTAGTGCTTGGCAAAATATACAAATTTACCCCCCTTTATTTACCTACCTGAAGGTCCTGTG[T/A]TTTGATGCTTATTTCAATGAAGATGTTCCTCAAAGGAGGGAAGAAAAATATAGAGTACGAAAGTGCAAGATTTACTTCTACCTGGAGGATGACACCATACAAGTGGTGGAGCCAGAGTTCAAAAACAGTGGCATCCCACAAGGTGAACCATCAGAATCAAACATTTAGTTTCCAGATTAATGACAAACCAGTTAAAAACATCTTGTCTAAATTCAGCTGTTCTTCTTCTGTACAGGAACCCTGATTCGGCGCCACCGCATTCCTCTACCAGCTCCTAAAGATGATTGTTTCTACAATGTGCACCATTTCAACATCAACCAGGAAGTCGTGTTTTATTCCAGAAACTTTATGATCACAGACTGTGACCCTTTCACTCGCAACTTTTTGATAAAAATGGGAGTCCGACTGAATCCTCCTGCTTCCACACCAGCGGATCCCTATACTACCCTTCGACAAGAGGCAAGTGAGCACCAGGGATCTAAATAGCAATATCAGAACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45363
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008737 None 204 748 5 15
ENSDART00000142788 Essential Splice Site 204 345 None 15
Genomic Location (Zv9):
Chromosome 9 (position 34738232)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 33971260
GRCz11 9 33780445
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAATATCAGAACTTCCGTATTATAAAGTGTGTTTCCCCTGACAGTTGGA[A/G]GAGAACATGAAGCCACTGCGGCCGTATGAAAGACTGGATACCCTGAAGCA
Long Flanking Sequence:
GAGGGAAGAAAAATATAGAGTACGAAAGTGCAAGATTTACTTCTACCTGGAGGATGACACCATACAAGTGGTGGAGCCAGAGTTCAAAAACAGTGGCATCCCACAAGGTGAACCATCAGAATCAAACATTTAGTTTCCAGATTAATGACAAACCAGTTAAAAACATCTTGTCTAAATTCAGCTGTTCTTCTTCTGTACAGGAACCCTGATTCGGCGCCACCGCATTCCTCTACCAGCTCCTAAAGATGATTGTTTCTACAATGTGCACCATTTCAACATCAACCAGGAAGTCGTGTTTTATTCCAGAAACTTTATGATCACAGACTGTGACCCTTTCACTCGCAACTTTTTGATAAAAATGGGAGTCCGACTGAATCCTCCTGCTTCCACACCAGCGGATCCCTATACTACCCTTCGACAAGAGGCAAGTGAGCACCAGGGATCTAAATAGCAATATCAGAACTTCCGTATTATAAAGTGTGTTTCCCCTGACAGTTGGA[A/G]GAGAACATGAAGCCACTGCGGCCGTATGAAAGACTGGATACCCTGAAGCAGTTTTTAGAGCATGACCGCCAAGTCCTGCGCTTCTACTGCTACTGGGATGATAGTGAGAGCATGTTTGGAGACCCTAGAGAGCTGATCCTGCATTACTTCCTGGCAGACGACACCATGGAAATGTACGAAGTTGTTCCTCCAAACTCTGGTCGAGACACTGTCCCTAAATTTCTGCACAGGGGCAAGCTTCCCAAGGTTAGTAAGAAACAGCACATTACTTTAAATATATATATATATATATAAACATATTAGAAAAGAACATATCTGTAAAGGAGAATCACATATATAACTAATGCATTGAGCAAAACTATTGCAAGTATAATAAAAAAACAGTTTACAAGGTACAAATTAATGGAGGCACAATGGTGCAGTGGGTAGCACATTCGCCTCACAGCGAGAAGGTCACTGGTTCAAGCCTCGGCTGGTTCAGTTGATGTTTCTTTGTGGAG
Associated Phenotype:
Not determined