ZMP

zgc:103750

Ensembl ID:

ENSDARG00000011998

ZFIN ID:

ZDB-GENE-041212-58

Description:

phakinin [Source:RefSeq peptide;Acc:NP_001008633]

Human Orthologue:

BFSP2

Human Description:

beaded filament structural protein 2, phakinin [Source:HGNC Symbol;Acc:1041]

Mouse Orthologue:

Bfsp2

Mouse Description:

beaded filament structural protein 2, phakinin Gene [Source:MGI Symbol;Acc:MGI:1333828]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa6852	Nonsense	Mutation detected in F1 DNA	Not yet available
sa39864	Nonsense	Mutation detected in F1 DNA	Not yet available
sa19801	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa6852

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000004712	Nonsense	7	438	1	7
ENSDART00000125889	Nonsense	7	441	1	8

Genomic Location (Zv9):

Chromosome 2 (position 32486645)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	32785552
GRCz11	2	32768770

KASP Assay ID:

554-5257.1 (used for ordering genotyping assays)

KASP Sequence:

TGGCCTGTCACTTCAAAAGCATCAGGACAGGAATGCCTCTTCCAAGACGC[C/T]GATCCTCCTTCCTGGGCCAGGGTGCAGCGGAGCGTCCTGGCAGTGTAGGA

Long Flanking Sequence:

GTGTTCAACAGAAGAAAATCACATAACATTTTTAAACATTTTTTTTTTTTGGCCAAAAAATTCATGTGAGCTTATGCAACATTTAGCATATCTCTCATAAACACACATATGAGCCCAACCACAAGCAGACAAATGCTCTGTTGGGTCATTGTGATGATAGTTCAGCCTCCCCCCCAAAAGTTATTGTCAAACATACTGAGAGAGGGTCCTGGATTGGCCCATAGAGCTTTCCTGAGAAGACCACTATGCTGAGGCAGCCAAAAACAGCCTAGCGGTGATGAACAAAGAGCATCACCAGCATCACTTTCACAATAGTACCAAAACAAAGAAGCTGATTTCCAGAAGCCCAGACCCCCATAAAGAGGCTTCGCTGCCCGCTGTTGCCGTTTAGCTGAAAGGAGCTTAGTGGACATTCACGCTTGCGTTGTGGTCATGTCTATGGACTAATAGTGGCCTGTCACTTCAAAAGCATCAGGACAGGAATGCCTCTTCCAAGACGC[C/T]GATCCTCCTTCCTGGGCCAGGGTGCAGCGGAGCGTCCTGGCAGTGTAGGACGCATGAGCGCGGCTGCCACCTCTGCGCCTCGGGGAGTTTTCGTAGGCAATGCTCCCACCGGAGGAGGCAGTAGCCTGGGCACACGAGTGTCCCGCAGGGCTCTGGGTATCAGCAGCGTGTTTCTGCAGGGCCTCAGATGCTCGAGCGTTCCTGTGGTGGCTCAGCCTGGAGAGCAAGGCCATCCATTTGGTGTGGACAGCCTGAACACATGCCTGTTGGAGTACAGAGATAAAGTCCATGCTCTGGAGCAGCTCAACAAGCAGCTGGAGGAACAGATCAGACACTGCTTGGATCGTAAAGCCGTCAGCGCTGGGACATGGACCGGCCTGAAACAAGACTGGGAGGATGTTTATATACAGGTAGGAGGATGTTAGACTGGGATGGATTTATAGATGAGTTGTAGAGGTCATATAGCAGAAATCATTTCTGAAATGGTGTAGTTGAGTGAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa39864

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:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000004712	Nonsense	275	438	4	7
ENSDART00000125889	Nonsense	275	441	4	8

Genomic Location (Zv9):

Chromosome 2 (position 32484181)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	32783088
GRCz11	2	32766306

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACTGGGAGAGGGTGGTGGAGAAGAACCGTGCAGAGACGTATGCCTACTTT[G/T]AGTGCAAGGTAAGCCACCGTCTCAAAGATATTTATTAGAAAAACTTGGGC

Long Flanking Sequence:

GAGGACTTTAAAGAGAGGTGTGAGTGTGTTTCACTGCTTACCTTCATCATAAGAAACAGTTTTTCAGTAAATGTATTCTATAAAGTGTTCCTCTGGATGATTGTGTAGATATGAGAATGAGCAGCCGTTCCGTAAAGCAGTGGAGGAGGAAATCAACTCTCTGTACAAAGTCATCGATGATGCAAACCTGACCAGGATGGACCTCGAGAATGAGATTGAGAGCATGAAGACCGAGCTGATAAATGTGGAGCAGAGTCATATGGAGGTGAGTTCACGAGATAAACTCCACAGCTCAATTCTTTTTGGGTTTCAGTGTTAAATTGGGATGTTCTTTTGCTCTTCTCCAGGATGTTAAAATGCTCTATAAGCAGATGTCCGGTCGTGAGGTTGATGAGCCGGACGCTCCTACTGAGACCAGCCTGGACCAGATTCTGTCCTTCATTCGCTCTCACTGGGAGAGGGTGGTGGAGAAGAACCGTGCAGAGACGTATGCCTACTTT[G/T]AGTGCAAGGTAAGCCACCGTCTCAAAGATATTTATTAGAAAAACTTGGGCCAAATAGTTTTGCAAAAATTTATATTGTATAAAATGTATAAATATATATGTATAAATATATTCATTTTTTGATCTTTCCACTGCCCTTATAAATTTTGTAGTCAGTAAAAAATATCTAATAATAATGATGAAAATAATTAGGGATGCATGATATATCGACGGCCATATCAATATCGGCCGATAAATGCTGTCTTAAATGTTAATGTTATTGGTTTGATATCAATAATAGGTCGATATATTAAAGTCAAAAGATTGCAAAATTGTGCATAACATGACGTGTCTATTTTGTGTCTGACACATTAAATTTAGCATTTTAAAATGCTGATTAATTTTAACATGCAAACAACAGCATACAAAACAGTTATCGGTTATCTATATCGGCCTAAAAATCCATATCAGTGCATCCCTGATAATAATAATAATAATAATAATAATAATAATAATAATAAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa19801

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
ENSDART00000004712	None	428	438	7	7
ENSDART00000125889	Essential Splice Site	428	441	None	8

Genomic Location (Zv9):

Chromosome 2 (position 32479291)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	32778198
GRCz11	2	32761416

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATCCCACACCTTCCACATCTGGACAACAGAGCTGTGCACAGACTGACGG[T/A]ACTCTTTTAACAGAATATTATAACACAGAATAACTGTAAAATGATCAGAT

Long Flanking Sequence:

TTTCTGTGAGAAGTTTGCATGTTCTCCCTGTGTTCACGTTTCCCCCAGGTTTACCGGTTTTCTCCCACCGTCCAAAGACATACACCAAATTGACTACTCCAAAACAGCATCTTAAAGCAACTCTTAGCCAAGTATATCTCAGTACATTTACAAGCTTGGGAGTTCTCGAGACCTACCTGAGCTCAAACTCCCCTCTCGCCCTTTAGATGGGAGGGAGCCCCGGGCTCAAGGATGTTTTGACAGCACAACAAATACGCTTTATTATCAATCATCAGCTAAGTGTGAACTCTTAAAAAAGAATGTGTATTTAAATTGATATTTGCTCACCAGCCTCTTTGTTATGTTGCAGCTCACAGATCAAGTGTGAATCTGTTAAACCCTTTATGTTACCGCAATATTGTTCTGCACTGTAGATTCCCTGCTGGTTCTTCAGTACCCGAGGGACCAACAGATCCCACACCTTCCACATCTGGACAACAGAGCTGTGCACAGACTGACGG[T/A]ACTCTTTTAACAGAATATTATAACACAGAATAACTGTAAAATGATCAGATTGTATTGTGAATATCTGAACTTAGCATTAACAGTGACAGTGTGTTGTAGGATATATGCAGTGAGGATTAAAAATGAGTTTTGATGTTCTCTGTTAGGATCTAGCGCTCCTGAGGCTCCCGAAGAAAAAAATAAGTTTTGATTTTCATTTGTTTCTCCTAACTTGTAATTCATATCTATATACGACATGATTTCTGTGCAGGTAAAATAAATACAAATAAAAAAATGAAGGCATAAATTCAAGAAATAAATTCTTTTTATTTCATATTTAGCTGGAAATTGTATGTACAAAGACTCTTTAGATGTTACTGTAACAATAACCTCTGGGATTTCATATATGCCAGCGTCTTGTTTTACTCCCACGGCTAACAAAGCCATAAATGATAACGTGGGAAATGAGAATAATTGACTCTGAAGCTGCTTAACACAATAATGACACCTTGTGGTTATAA

Associated Phenotype:

Not determined