ZMP

crybb2

Ensembl ID:

ENSDARG00000053512

ZFIN ID:

ZDB-GENE-060130-1

Description:

beta-crystallin B2 [Source:RefSeq peptide;Acc:NP_001018138]

Human Orthologue:

CRYBB2

Human Description:

crystallin, beta B2 [Source:HGNC Symbol;Acc:2398]

Mouse Orthologue:

Crybb2

Mouse Description:

crystallin, beta B2 Gene [Source:MGI Symbol;Acc:MGI:88519]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa34464	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa34465	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa34464

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000075553	Essential Splice Site	105	208	4	6
ENSDART00000135525	Essential Splice Site	105	185	3	5

The following transcripts of ENSDARG00000053512 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 8 (position 44672868)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	42625650
GRCz11	8	42632437

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCAACAGCAGACGCAGTGACTGCATCGTCGCCTTCCGCCCCATCAAAGTG[G/T]TAACTAAATACAGTACAGCAGAATTGTGAAAGTGTCACGTGTGTAAAGTA

Long Flanking Sequence:

TGGAGGACCACCAGCACATTTTCTATGTCTCCTTAACCAAACACACCTGATTCAGGTCATCAGCTCATTAGCAGAGACTGAAAGGCCTGTAATGGGTGTGACTGACAAAGGAGACATCTAAAACATGCAGTGTTCATGGTCCTCCAGAAATGTGGTTGAGAAACACTGATTTATATTGTCCATAGGCTGCTTTTAATTATACAAACCTGGCAACCACTCCAGACTAAATGAAACTCTGCTCATACTTTTATGTCCCAGAGCTTTTGGGCTGTAATATCAACACGCTTGTAACTCTGCTTGAGGAATCAGATTGTAGAACTGTGCTGTATTAAGAGAGCATGTCATAGATGTGCATTTGTTGTTGTAGGTGGGTGGGATTTGAGCAGCCCGGCTGTAAGGGGGAACAGTATGTGTTTGAGAAGGGTGAGTATCCTCGCTGGGACTCCTGGACCAACAGCAGACGCAGTGACTGCATCGTCGCCTTCCGCCCCATCAAAGTG[G/T]TAACTAAATACAGTACAGCAGAATTGTGAAAGTGTCACGTGTGTAAAGTACTGATTTAAACACAATTAACTTGAATTAAAAACTTAAAATTAAAACTTAAAATTCAATTAAATAATTTATTTTAAAACTAAACATTTTACACAAATCAAAACTTGTGTATTTTGTATTTAGCAACTTTATGGGATGCTTTTTTTTCTCAAATAATAAAAATTCTACATAATTTCTATTTCTATATATATGGAAATAATTAACTATACTAATCTAAAAATAAAATAGTTGGAAAAAATACATTTAAAACAAATGAAAATTAGATTATTAATTTTTAAACAAACTTTATAGGCTGTGTTATATGATTTTAAAAAGCATTTAATGAATTTACTTGTAAACTTGATTAAAAATATTGATTCTAAAATAGTTATAACTTTAAACAACAAAGCCATATAAATAAATAATTTAATAAAATTACAAATATTTTAAATGAATCAATAAAAGACTTTTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa34465

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
ENSDART00000075553	Nonsense	142	208	5	6
ENSDART00000135525	Nonsense	142	185	4	5

The following transcripts of ENSDARG00000053512 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 8 (position 44674170)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	42626952
GRCz11	8	42633739

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTGAGATCATAGACGATGACGTTCCCAGCTTCCACGCTCATGGATACCAT[G/T]AGAAAGTCTCTTCAGTTCGTGTGCAGAGTGGCACGTGAGTAAAACCCCCA

Long Flanking Sequence:

ATCTGTTCAAATAATAAAAGAAAAACTTTACAATGGTGTTATAAAGACTTTCAGAAAAAGGAAAAAAAAAATAGTGCGAGACAGAAGAGAGAATAATGTCAAATTTACTGTCCTGTCCCATTGACGTTACATTAGAAATGCCTTGCGCGAGCAGTAATTCGTTTTTGTTTGAAGCAAAGATGATATAATACATGCATAAATACATATAAATGTTCATACGTTTAAAAAAAACAAATCAAAATATTAAATACATTCAAGGATTTAAGATGCTGATGAACATTAAACACATTGTAACAGGCTTGTGAAAAGGGTCTATAAGATCCTAAAACATTTTTCTGTCCGAATGTTTAAACTAAACATCACAATATACATTACATTATACGTCCCTACAGGACAGCCAGGAACACAAGATCGTCCTCTACGAGAACCCAAGCTTCACTGGGAAGAAGATTGAGATCATAGACGATGACGTTCCCAGCTTCCACGCTCATGGATACCAT[G/T]AGAAAGTCTCTTCAGTTCGTGTGCAGAGTGGCACGTGAGTAAAACCCCCAAAAAGCACTGACATGAGTACAGTCTATATACTATTTCTGATAGTCATCGTTTCAATCTTATAAAAATCTTTTGTCTTTGCAAATCAAAATTGCAAAGTTAAATTTAAAACATCAAAGGTTAATCATAATTGAGGTCTCATAACGCAGTTCAAAAACGTGAAATAAATTAAAAACAACTTGTTAAACGCAAAATAAAAACTTTGAATTGATGGATCATTTTTACAGCGTCAGTTTATTTATGAAACCTGTAAAGTATGAAACAATGACTGTAAAATAAGAAGCAATATTAGGGTTATTTATTAACATTTTTCCATTAGTTAGCACAAAATAATACTGCATATTATTTATGTACACTGTAAAAAAAAAAAAGCTGGGGTGCTGGAAAAAAGACCTAAAGTAACTACCGTTAAATTACAGAAATTTACTTTAATCTAAATTTCTGGTAAAATT

Associated Phenotype:

Not determined