ctrb1

Ensembl ID:
ENSDARG00000090428
ZFIN ID:
ZDB-GENE-030131-1171
Description:
chymotrypsin B1 [Source:RefSeq peptide;Acc:NP_997783]
Human Orthologues:
CTRB1, CTRB2
Human Descriptions:
chymotrypsinogen B1 [Source:HGNC Symbol;Acc:2521]
chymotrypsinogen B2 [Source:HGNC Symbol;Acc:2522]
Mouse Orthologue:
Ctrb1
Mouse Description:
chymotrypsinogen B1 Gene [Source:MGI Symbol;Acc:MGI:88559]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa11393 Nonsense Available for shipment Available now
sa3647 Essential Splice Site Mutation detected in F1 DNA During 2014
sa18877 Essential Splice Site Mutation detected in F1 DNA During 2014
sa25368 Essential Splice Site Mutation detected in F1 DNA During 2014
sa21002 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa11393
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037346 None None 263 None 7
ENSDART00000109691 Nonsense 48 459 2 13

The following transcripts of ENSDARG00000090428 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 7 (position 36522967)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGCCAGGATTGTRAACGGTGAGGAGGCTGTCCCTCATTCCTGGCCCTGG[C/T]AGGTGTCTCTGCAGRTATGAAYAGACAGATTTTCACTTACAGATGACATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3647
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037346 None None 263 None 7
ENSDART00000109691 Essential Splice Site 52 459 2 13
ENSDART00000037346 None None 263 None 7
ENSDART00000109691 Essential Splice Site 52 459 2 13

The following transcripts of ENSDARG00000090428 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 7 (position 36522982)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACGGTGAGGAGGCTGTCCCTCATTCCTGGCCCTGGCAGGTGTCTCTGCAG[G/A]TATGAAYAGACAGATTTTCACTTACAGATGACATTAGGATAGGCAACTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18877
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037346 None None 263 None 7
ENSDART00000109691 Essential Splice Site 52 459 2 13
ENSDART00000037346 None None 263 None 7
ENSDART00000109691 Essential Splice Site 52 459 2 13

The following transcripts of ENSDARG00000090428 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 7 (position 36522982)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACGGTGAGGAGGCTGTCCCTCATTCCTGGCCCTGGCAGGTGTCTCTGCAG[G/A]TATGAACAGACAGATTTTCACTTACAGATGACATTAGGATAGGCAACTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25368
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037346 None None 263 None 7
ENSDART00000109691 Essential Splice Site 53 459 None 13

The following transcripts of ENSDARG00000090428 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 7 (position 36523064)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CATTAGGATAGGCAACTGTGAATAAAAAAATTGATCTGATGTTTAATGTA[A/G]GGACTCCACCGGCTTCCACTTCTGCGGAGGCTCCCTGATCAACGAGTGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21002
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000037346 Nonsense 187 263 6 7
ENSDART00000109691 Nonsense 383 459 12 13

The following transcripts of ENSDARG00000090428 do not overlap with this mutation:

Genomic Location:
Chromosome 7 (position 36532891)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGCCCTGCTCCAGCAGGCCGCTCTGCCTCTGCTGACCAATGATGACTGC[A/T]AGCGTTACTGGGGAACCAACATCACTGATCTGATGATCTGCGCTGGAGCT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/wu1x8mt0