ZMP

LOC561649

Ensembl ID:

ENSDARG00000090973

Human Orthologue:

CCDC50

Human Description:

coiled-coil domain containing 50 [Source:HGNC Symbol;Acc:18111]

Mouse Orthologue:

Ccdc50

Mouse Description:

coiled-coil domain containing 50 Gene [Source:MGI Symbol;Acc:MGI:1914751]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa41904	Nonsense	Mutation detected in F1 DNA	Not yet available
sa35150	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41904

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
ENSDART00000130278	Nonsense	29	346	2	11

Genomic Location (Zv9):

Chromosome 11 (position 41524550)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	39784231
GRCz11	11	40048376

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTTTTCCCCTCAGTGTGCCAGTGTTTCTCCGTTTTAGAGGATGGTGCTT[T/A]GGCTCAAAGTCTTCAAGAGCAGGAAAGTCAGTATAATCGTTCCCTTCCTG

Long Flanking Sequence:

GGCAGGTGTATACCTTTACAAATCATGTCCAATCAACTGAATTGACCACAAGTGAACTCCAATGAAGCTGCTGAAACATCTCAAGAATGATCAGTGGAAACAGAATGTACCTGAGCTCAATTTAGAGCTTTACGGCAAAGGCTGTGAATATTTTTCAGCTTTTTTATTTTTAATAAATTTGCTACAATTTCAAAAACTCTTTCTTTGAATTGCCATTATGGGGGGTTGTCTGTAGATTTTTGAGAAAATAAATGAATTTCATCCATTTTGGAAGAAGGCTGTAACATAAAACATGTGGAAAAAGTGAAGCGCTATGAATACTTTCCGGATGCACTGTATTTTATAAGTACTAATAAACAGACACTATCTTAATAATTGACAGGTAATAATTCACTAGTTAAATACTTAAACTAAAGTGTTACTGCCTTTTTAAAACTTTGTATTTGTGTGTGTTTTCCCCTCAGTGTGCCAGTGTTTCTCCGTTTTAGAGGATGGTGCTT[T/A]GGCTCAAAGTCTTCAAGAGCAGGAAAGTCAGTATAATCGTTCCCTTCCTGTAATTTGGCTCATCCGTCCTTATTCAACTGGGTTTAAATAGAGCTGATCTTTCTCTTCGCAGTCGAGCATTTCTACAGCACTAACATCCAGAAGAACCAGACAGTGCAGAACGATGTTCGCTTGGCCCGAAGACTCCAGGAGGAAGAGGAAGAGCGGGCAAATCTACAGCAGATGTAAGTTAAAAACCAGACCTGGACACATGCATCTTATCACTTTATCAGCACTATCAGAAAAGCACAGACTTTAATGAAATTCAAGAGAATTTGTGGATAACAGAGGCATCAAATTTGACGAGTTGATAAAGCACCACAGAAAAAACAAGTTTGTTTAATTTTTGCACCTCTTGTAGTATTTTTTAAAGTGGTGGTCCTTTACGATATCATATTTTAAACTTTAGTTGATTTGTAATGTAGCTGTGTGAACATAAACGACATCTCTGAATGTAAGAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa35150

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130278	Essential Splice Site	229	346	8	11

Genomic Location (Zv9):

Chromosome 11 (position 41543584)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	39803265
GRCz11	11	40067410

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGATCTGATGAAGAAGGCAGAGATGAAGAAAACACAACCACCAGGAAGG[T/A]CTGAATGAAGCTCACACACACACACGTATGTTTGTTTTTGTGAAAAGTGG

Long Flanking Sequence:

CAGAATATATCCAGTGTTATAATAATATGTTTTACACAGTGGATGCCCTTCCAGTTGCAACCCATCACTGGGAAACATCCATACACACTCATTCACTCACATTCACTATGGAGAATTTAGTCACCTGTGAGGCGAACGTGCTACCTACTGCGCCACCGTGCAGCCCTCAATGACAATAAAGAATCATAATTTTATTGTTTACACTGCTTAATGATAAACATAATCTGCACGACAAGTGTTTTACAGCCACCAATAACTTCTGGTGAAAGGTTGATGTGATCATTCCCAATTTCAGAAGGTTGCTTTTACAACATTGATAATGTAATTGAATTAAGATCAGTTAACTCTAGAACTACCTCTATACATGCATGTTCATCAGGAGATCGCAAACTACATGCAGCGGCGCCAGAGAAGAGTGAACCACAAAGCACAAGAGCTGGAGATCCAGAGCAGATCTGATGAAGAAGGCAGAGATGAAGAAAACACAACCACCAGGAAGG[T/A]CTGAATGAAGCTCACACACACACACGTATGTTTGTTTTTGTGAAAAGTGGGGACATTACATAGGTTTCCATTCATTTAAACTGTCCAAACCGTATATTGTGTTGCCCCCACCCCTCCCTACCCCTAAACCCAATCATCACAGGAGATTGTGTGCAGCTTTACTCTTTGATTAAACTCAACCTGTGGGATTTATAAGCACTTTGAGAAATGAGGACGCCACCAATGTCCTCCTATTTCACCTCCTTTTTGTAATACCTGTGTCATACCCATGTCATTATACAGATTTGTGTCCTGATATGTCACAAAAACACACACACACACACGCACACGCGAGTGCGTAATGAATGAGACACAACTTTCATAATGATAACACATTTCATTCAGCAGTTACATCTCATGACAATACATAACAATTTAGAGATATAAGACTTTATCAGCCCTCCTGTGATATTTAGAATTATTTTTTACATTTCCCAAGTTTTTACATTTCAGAGTGTTTC

Associated Phenotype:

Not determined