Busch Lab

ZMP

crybb1l3

Ensembl ID:
ENSDARG00000007655
ZFIN ID:
ZDB-GENE-070820-11
Description:
crystallin, beta B1, like 3 [Source:RefSeq peptide;Acc:NP_001095860]
Human Orthologue:
CRYBB1
Human Description:
crystallin, beta B1 [Source:HGNC Symbol;Acc:2397]
Mouse Orthologue:
Crybb1
Mouse Description:
crystallin, beta B1 Gene [Source:MGI Symbol;Acc:MGI:104992]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa42562 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39052 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42562
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
ENSDART00000100293 Essential Splice Site 22 208 2 6
ENSDART00000140092 Essential Splice Site 22 203 2 6
Genomic Location (Zv9):
Chromosome 15 (position 27446761)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 28165001
GRCz11 15 28097877
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAAGGAAGTATGGGAAGTCGCTTTGCCACAGGAAAGAGCTCCCACAGAG[T/A]ATGTCAAACTTATCATGCCCTTAGATTCTCGCCTTCCTGTTACATGTGTT
Long Flanking Sequence:
AAAAAATCTTCTCTCCATTAAACAGAACATGCAAACTCTACACAGAAACACCAACTGAACTAGCCTGAGCCTTGAACCAGTGACCTTCTCGCTGTGAGGCGACAGCACTACCTACTGCGCCACAGCGTCGCCCTATGGCTGATTTGAGTTCTAATGCATTTTTAAATGACATTTTAAAATCTATTAATATTTTTATATTCACAGTACTTTTATTTCAGAGTGGGCGCCTTTTAAATATGGTTCCATGTGGGAAATGCAAAGATATAGATTTAGATGCTTTTAAGGGATTTGAGTTAAGAAGCTTACTGCTTTATATGCAAGATATTATTGAAAAGAGGGCGAGAGAGAGATTTTTTTCAAACCTTATACTGTTTCTCTGCAAATGCATTCTAATACATGTGTCATCTCTCTTGTGTTGGTAACAGTTTCAGCCATGTCACATACTGCAGTTCAAGGAAGTATGGGAAGTCGCTTTGCCACAGGAAAGAGCTCCCACAGAG[T/A]ATGTCAAACTTATCATGCCCTTAGATTCTCGCCTTCCTGTTACATGTGTTTTGTACAGGTCTTTGTCTTTTCTGTGTGATCTCCAATCAGATATATCTGTTTGAGTATGAGAATTTCCAAGGGCACATGATGGAGCTGAGTGGAGAGTGTCGTAACGTCTGTGACAAGGGGCTGAAGCGCGTGGGCTCCATCAGAGTGGAGTGTGGGCCGTGAGTATACTTGTCTGACAAATCATATACATGACATTAAAATTGATCATCAGAAGATAAGATAACTAGCAATCATTAGTTTATGGGTCAAAAATGTGCATTAGAATGTGTATTGTTTCATTTACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39052
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100293 Nonsense 137 208 5 6
ENSDART00000140092 Nonsense 132 203 5 6
Genomic Location (Zv9):
Chromosome 15 (position 27449793)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 28168033
GRCz11 15 28100909
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGACGGTCGTAAGATGGAAGTTTCTGATGAGGACATCCCAAGTTTGTG[G/A]TGCCATGGCTTCCAGGACAGAGTTGGCAGCATTCAAGTAAATGGTGGAAC
Long Flanking Sequence:
AAACTGCACAAAACAAAACAAGTAAGCTTAAAACAAAACAAGTAAGACTTTCTTCAGAAGAAAAAATATTATTGGAAGTACTGTGAAAAAGTCCTTGCTCTGTTAAACATTATTTGGAAAATATTTGACAAAGAAAAACGGAGCATTGACAGTATGCATGCTCTTTACCGTCCTGCAGGTGGGTAGGTTTCGAGCAACAGAACATGGCCGGTGAGATGTTCATGTTGGAGAGGGGTGATTACCCACTCTGGGCCACTTGGTCCAACAGCTACCGTTGTGATCGCCTCATGTCTGTCCGGCCAGTTCGAATGGTGGGTTAATAGCTCTATTTCCCATTTTATCACCAATTAAACAGGATAGAACATAAAATATGAATAACCATAAAATATGATGGTTTTTACCATGTAGAATCCACAGGACCATAATATCTGTCTGTATGAGTGCATGAACTTTGACGGTCGTAAGATGGAAGTTTCTGATGAGGACATCCCAAGTTTGTG[G/A]TGCCATGGCTTCCAGGACAGAGTTGGCAGCATTCAAGTAAATGGTGGAACGTAAGTCATTTAACTTCTCGTGTATTTATTGCAGTTTTTCTCAGTGGCTTTGGTGCATTTCTCACAACACTATTTACATTTGCACAACAGTTAATGCATTTATCAAAACAATTAGTCATTTGTGCACATCATAGTAGCAGTTTCTCATTCCTTCCAACAAATTGCAAATGCTATTAGACATGGATCATTTGCTTTCATTCAACTCTTTGCTGTTTTATAACATTATCATTTGCTTATGTCATGTCAGTCAAAATTAACTAAACTTGTGAATGCTGAATAGTCATTCCATATAAAACTAATAGTCCTCATTTCATTACTTGAGTCATTACTTACAAAAATGTTAAACTAGTTGTCAAAATCTGTCAACAAATTTTATTTAAAAAAATTTAATCTTTATTTTCCTGAAAATTTCTTAAAAATTGAACAATTTCATGAATGATTTACAGGCCT
Associated Phenotype:
Not determined