Busch Lab

ZMP

LOC100332608

Ensembl ID:
ENSDARG00000079876
Human Orthologues:
C2CD4C, C2CD4D
Human Descriptions:
C2 calcium-dependent domain containing 4C [Source:HGNC Symbol;Acc:29417]
C2 calcium-dependent domain containing 4D [Source:HGNC Symbol;Acc:37210]
Mouse Orthologues:
C2cd4c, C2cd4d
Mouse Descriptions:
C2 calcium-dependent domain containing 4C Gene [Source:MGI Symbol;Acc:MGI:2685084]
C2 calcium-dependent domain containing 4D Gene [Source:MGI Symbol;Acc:MGI:2685505]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa43833 Nonsense Mutation detected in F1 DNA Not yet available
sa24162 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa43833
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113168 Nonsense 148 426 1 1
Genomic Location (Zv9):
Chromosome 22 (position 22493581)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 22105217
GRCz11 22 22130195
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCCAATCCGCCATGTCACTTCCTTACATTCCAAAAACTCAGACTTCCTA[C/A]GGCTTTGCTACATTGATGGAGAGTCCCCACACCCGGCGGAAAGAGTCCCT
Long Flanking Sequence:
ACTGTTGAATGTTCTGTTGTGTGTGCTTACAGGCAACCGTGCATCACCCAGTGGGTTAAGCCCAAACGGATCATGTGGGTTCTGGAGAAGATCCGGGACTCAGTTGAAACAAATGTGCTCCGACAAGGAGAGGCGGGTGAAAAAGGAAAGGCTCCTGTTTATAGCAACGTCCTCACACCAGATAAGATCCCAGATTTCTTCATCCCCCCCAAGCTTGTAAGCTGCCCACCAGAGACCGAAGCTTCTGACGTCAAACCCAAAGAGAGTCTGAAACCCTCGACTTCTGAACAGACCATCAGCAACAAAAAGATCAGCAGCCCTCGTAGTCCGCGATTGGTCAGCAAGTTAGCAGGAGACACCAAGAACTTACTGAGGGCGGCGAACCGCCACATCATTCAAATTGAGAGTGCGGATGACGTTGTAGCAGGTGACACCAATGCCGACCCTCAATCCCAATCCGCCATGTCACTTCCTTACATTCCAAAAACTCAGACTTCCTA[C/A]GGCTTTGCTACATTGATGGAGAGTCCCCACACCCGGCGGAAAGAGTCCCTCTTCCACTGTGACCACACAAGCCCAGTAACATCACCCAACACCCAACGCAAGTCCCAAAGCAAGAGTCCTAATGAAGGGAACCACCTCAACCCTCCGGATTTTAACACCTCACATATAAACCCCTACCGATACTTCAGCGGGGGCGAGAGCGACACTTGCTCTTCAGCAGAGTCCTCTCCATTCAGTTCTCCATTGCTCTCCCGATCTGCCTCTCTACTGAAGATCTTTACTCACGAAACTCAAGCCAAGGTCGCAAAAGGAAAGCGGACATTTGCCAGGCATAGTTCCTTGTCTACGGATGAGTGCAGCTCAGCAGAACCAAGCCCTAATGTTCCTAGACGGAGTCACTGTTCGTCCTTGCAAGCCGGCGGAGCTCTGGACCATCTTCATGGCGGGGACCGCCAACACAAAGAGCACACCATCAACATGCATAAAGGAGGCACTGTCCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24162
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113168 Nonsense 168 426 1 1
Genomic Location (Zv9):
Chromosome 22 (position 22493521)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 22105157
GRCz11 22 22130135
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACATTGATGGAGAGTCCCCACACCCGGCGGAAAGAGTCCCTCTTCCACTG[T/A]GACCACACAAGCCCAGTAACATCACCCAACACCCAACGCAAGTCCCAAAG
Long Flanking Sequence:
CCCAAACGGATCATGTGGGTTCTGGAGAAGATCCGGGACTCAGTTGAAACAAATGTGCTCCGACAAGGAGAGGCGGGTGAAAAAGGAAAGGCTCCTGTTTATAGCAACGTCCTCACACCAGATAAGATCCCAGATTTCTTCATCCCCCCCAAGCTTGTAAGCTGCCCACCAGAGACCGAAGCTTCTGACGTCAAACCCAAAGAGAGTCTGAAACCCTCGACTTCTGAACAGACCATCAGCAACAAAAAGATCAGCAGCCCTCGTAGTCCGCGATTGGTCAGCAAGTTAGCAGGAGACACCAAGAACTTACTGAGGGCGGCGAACCGCCACATCATTCAAATTGAGAGTGCGGATGACGTTGTAGCAGGTGACACCAATGCCGACCCTCAATCCCAATCCGCCATGTCACTTCCTTACATTCCAAAAACTCAGACTTCCTACGGCTTTGCTACATTGATGGAGAGTCCCCACACCCGGCGGAAAGAGTCCCTCTTCCACTG[T/A]GACCACACAAGCCCAGTAACATCACCCAACACCCAACGCAAGTCCCAAAGCAAGAGTCCTAATGAAGGGAACCACCTCAACCCTCCGGATTTTAACACCTCACATATAAACCCCTACCGATACTTCAGCGGGGGCGAGAGCGACACTTGCTCTTCAGCAGAGTCCTCTCCATTCAGTTCTCCATTGCTCTCCCGATCTGCCTCTCTACTGAAGATCTTTACTCACGAAACTCAAGCCAAGGTCGCAAAAGGAAAGCGGACATTTGCCAGGCATAGTTCCTTGTCTACGGATGAGTGCAGCTCAGCAGAACCAAGCCCTAATGTTCCTAGACGGAGTCACTGTTCGTCCTTGCAAGCCGGCGGAGCTCTGGACCATCTTCATGGCGGGGACCGCCAACACAAAGAGCACACCATCAACATGCATAAAGGAGGCACTGTCCGACTTTGTGCAGACTATGATGCTGGAACGGCCCGCTTGCGATTCCGCATTATAGCAGCCGA
Associated Phenotype:
Not determined