ZMP

cbwd

Ensembl ID:

ENSDARG00000004318

ZFIN ID:

ZDB-GENE-040426-2388

Description:

COBW domain containing [Source:RefSeq peptide;Acc:NP_998418]

Human Orthologues:

CBWD1, CBWD2, CBWD3, CBWD5, CBWD6, CBWD7

Human Descriptions:

COBW domain containing 1 [Source:HGNC Symbol;Acc:17134]
COBW domain containing 2 [Source:HGNC Symbol;Acc:17907]
COBW domain containing 3 [Source:HGNC Symbol;Acc:18519]
COBW domain containing 5 [Source:HGNC Symbol;Acc:24584]
COBW domain containing 6 [Source:HGNC Symbol;Acc:31978]
COBW domain containing 7 [Source:HGNC Symbol;Acc:31977]

Mouse Orthologue:

Cbwd1

Mouse Description:

COBW domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2385089]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa44690	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa27234	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa44690

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
ENSDART00000012132	Essential Splice Site	63	366	3	16

Genomic Location (Zv9):

Chromosome 8 (position 31276420)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	30419146
GRCz11	8	30428378

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAACAACATAATAAGCGAATAGCTGTCATACTCAATGAATTTGGGGAAGG[T/C]AAGTTATAAGACAAACAACAAATAAACAATCAAAAAGGCCTCTAGCCTAG

Long Flanking Sequence:

AACCTCTCAGCACCGCCCACGCTCGTCACAGCTAGCAAGCTGACCAATCACAGAGCTTGCGCTACGCGTTATTGTGAAGTGTAGTTACATTATTTGAGAGGTGCATAACAGCGTCGGCGTCAGCCACGGCAAGTGCTATGCGACCGCATACAGGCTGCACCGAGCATACGCTTGCCCTTGACACAGAAGTATGAATCAGCCATGATAATTTCCAACGTACTAATACATTATTGAAATTAAAATTAGATCTTATAAAAATATTAATAACTATAAAAACTGCAACAAAAATATTGCTATTATTAAAATATTGCTATTGCTAAAAGAAATTGCTATTTAACACATTAACTAATGTTAACCAATTAGACCTTACAGTGAAGTGTTTCAGTGAACTTTTTCTCTATTTCTTTTGCAGGTGCAGGAAAGACAACTCTTTTGAACTACATATTAACCGAACAACATAATAAGCGAATAGCTGTCATACTCAATGAATTTGGGGAAGG[T/C]AAGTTATAAGACAAACAACAAATAAACAATCAAAAAGGCCTCTAGCCTAGTTCTTGTACCTTTTTCTTTTATGTTGACTGTCACATTGGGTTTGTCACTATTATAACCAGAAGAGGGCAGCAAAGCGCTCTGTTTCCAAAAGCTGCAAGCTAGAGTAGCAGGTCCCATTTGTGAAAGACCCACATTTTGGACTCTTTAGTCTCATGTTTATCTTTTGTGTTGCCTATTTATATATAGTATAGTGTATACAATTTTTCCATATTTTAATTTCATTTGCATCATGTTCATACATTTTGATTAAAAGAGCAAAGATTATGGATGGCCAAAATTCCAGAGATTGCGTTTTTGGCCTGTTTTGCACTGAAGTTGCTAAAAGTTTGAAGTCGTGTTGTGGTCTGATTTTTTTTGCAGGGAGCGCTCTAGAAAAATCTCTAGCTGTGAGTCAGGCAGGAGAGCTGTATGAAGAGTGGCTGGAGCTGAGGAACGGCTGCCTGTGCTGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa27234

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
ENSDART00000012132	Essential Splice Site	237	366	11	16

Genomic Location (Zv9):

Chromosome 8 (position 31291091)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	30433817
GRCz11	8	30443049

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TATCTGAAGTATTAGACTTGCATTCTTTTGACACTAAAGATGGTGAAAGG[T/C]AAGCGTTTTCCTGCAAGAAAACTTCCAACAATTACACTCACTGAAGTATA

Long Flanking Sequence:

GACTTCATTCATTTGATCTTTTTGCAATAATTGCAATAAAAAAGTACAGTTTACAATGACTGTGATTTGTTTTTGATATTTTTTTCAAGTATAATTTATTCCTGTCATGGCACAGCTGAGTTTGTTTTATTCTTAAATCATTCTAATATGCAGATTTTTGTGCTCAAGAAACTTTTATTGTTATTCTCGATGTTAAAACTACTTCATATTTTTGTATTAACATTTTTCAGATTTTTTTCTTAATAAAAAAACCCTACTATAAGATAAATTATCTCGTAATAATGTAAATCAAATAAAATTATTATTTGATTACATCTCCTTTCATATTTTTACCTTAAACAAATATTATCTGTAGGTGTATTCAACCATTATTTTATCTGTTACTTACAGATAAAATGTATAAATAAATGATTCACTTTATTTGTGTTTTCCCTCTCCACAGGGTTGATCTATCTGAAGTATTAGACTTGCATTCTTTTGACACTAAAGATGGTGAAAGG[T/C]AAGCGTTTTCCTGCAAGAAAACTTCCAACAATTACACTCACTGAAGTATACAGTTGCAAATCTATTCAGCAGAGGACTATTATGTGTATCTGCCAAAGATCAAACACTCTATTACCTCATGCTAATGACTTAAACAAAAAAAATGAACCTCTTTTTAGGAGTAATTACAGTGAGACGGAGTAAATATGAATGGCTGAGCCCAGCTGCGGAGGATTATGACCGCTGTCCGTAGTTAAAAGTACAGAAGCACCTCCACACAACACCTCCTTTCAGCCCTGACCGTGGCCCATTTGCCCCCTCCGAGCCCGGGTTGCTTGTCTGGGATGAACCCCCCTCTGGCTACTCACAGCCTGACGAATAATCCACACAGCTACGTTTGCCCACCCTGAGGGGTCAAAACCCAGCTCTCACACGCTTTCTTCTTTCTTTCTTTCTCTGTTAAGCTCAATCTTACAGTTGCTAAAGCCAAAAGCCTCTGCGCATCACACCAGCAGCGGGAT

Associated Phenotype:

Not determined