si:dkey-220f10.4

Ensembl ID:
ENSDARG00000062902
ZFIN ID:
ZDB-GENE-030131-9651
Description:
Novel tub family member protein [Source:UniProtKB/TrEMBL;Acc:Q1L8C0]
Human Orthologue:
TULP2
Human Description:
tubby like protein 2 [Source:HGNC Symbol;Acc:12424]
Mouse Orthologue:
Tulp2
Mouse Description:
tubby-like protein 2 Gene [Source:MGI Symbol;Acc:MGI:1861600]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa35277 Nonsense Mutation detected in F1 DNA During 2017
sa35278 Nonsense Mutation detected in F1 DNA During 2017
sa14354 Essential Splice Site Available for shipment Available now
sa1568 Nonsense F2 line generated During 2017

Mutation Details

Allele Name:
sa35277
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 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084007 Nonsense 58 556 3 13
ENSDART00000091452 Nonsense 76 503 3 17
ENSDART00000128160 Nonsense 76 456 3 14

The following transcripts of ENSDARG00000062902 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 12 (position 21971511)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20497092
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGACACGCAAACAGAAACCTGAGTGTGACGATACTGTTTTATTGATAAGC[C/T]AATCTCAAAGCAATACTTCCCTCAATGGTTTGTACACACTTACACTATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35278
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 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084007 Nonsense 60 556 3 13
ENSDART00000091452 Nonsense 78 503 3 17
ENSDART00000128160 Nonsense 78 456 3 14

The following transcripts of ENSDARG00000062902 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 12 (position 21971517)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20497098
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAAACAGAAACCTGAGTGTGACGATACTGTTTTATTGATAAGCCAATCT[C/T]AAAGCAATACTTCCCTCAATGGTTTGTACACACTTACACTATATAAACCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14354
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084007 Essential Splice Site 187 556 None 13
ENSDART00000091452 Essential Splice Site 146 503 None 17
ENSDART00000128160 Essential Splice Site 99 456 None 14

The following transcripts of ENSDARG00000062902 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 12 (position 21973198)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20498779
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAAAGACAAATGGAACTAAAGGGAGAGCAAAGACAGGGGAACAGTCCTG[T/A]AAGTTTACCGGAGATGTGTGTCTATTGTTAGGCTTGACACAAGTTAAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1568
Current Status:
F2 line generated
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 2017.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084007 Nonsense 279 556 7 13
ENSDART00000091452 Nonsense 214 503 10 17
ENSDART00000128160 Nonsense 167 456 7 14

The following transcripts of ENSDARG00000062902 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 12 (position 21973687)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20499268
KASP Assay ID:
554-1511.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAAAAAACACAAAAAGTGTTAACAGTCTTGCCTCTTTGAACTCCAACTA[T/G]AAGGAGCACTCTTCTGACAGTGATTCTTCCGACATCGGAAAAGTGAGTAT
Associated Phenotype:
Not determined

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