Busch Lab

ZMP

spty2d1

Ensembl ID:
ENSDARG00000033889
ZFIN ID:
ZDB-GENE-050522-212
Description:
Protein SPT2 homolog [Source:UniProtKB/Swiss-Prot;Acc:Q6DGN6]
Human Orthologue:
SPTY2D1
Human Description:
SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) [Source:HGNC Symbol;Acc:26818]
Mouse Orthologue:
Spty2d1
Mouse Description:
SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:2142062]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa38086 Nonsense Mutation detected in F1 DNA Not yet available
sa25228 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa38086
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
ENSDART00000046349 None None 487 None 7
ENSDART00000073527 Nonsense 118 629 3 6
ENSDART00000132790 None None 58 None 2
ENSDART00000146073 None None 55 None 2
Genomic Location (Zv9):
Chromosome 25 (position 24965303)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 24144416
GRCz11 25 24241964
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATAGACCAGCCTAAAAAGAGACAGTCAAAAGGAAGCAGTACGGAAGAG[C/T]AGCAGAGTTCAACAAAATATGAAGGTGGTGATTATGATGATGAGGATAAT
Long Flanking Sequence:
TTTCAGTTGAAATTATTTTAACAACGAATAAAGATGTACATTTCAACACACTTCATGGGACCTTTTTTTGTAACCTATAAGGTATAATAATAATAATAATAATAACAACACATTTTAATTTGAAAAACAGCAATGGCACATATGCCAGAAAGTTAAACTTGCATGATTTTTTTTGTTTTTTTTTACTCCTGTCTATTAAGGTCATATCTATATGGTGTATTTAAGAATTCCTGCACTGGCATTCATTGTCATCTATTGCTGTTGATGTCATAATTTGTTTTCTGTTTTTGATAAAGTAAAAAAAACATTCTATGTGATCCTTAGAACAACAGGATAAGAAAGCAAAAGAAGATCTGCTGGCTAAAAGAGTGGAGCTGAAATCAGATAGGAAGGCACGAGCAATGGCATCACGAACCAAGGACAATTTCAGAGGTTACAACGGCATCCCTGTCATAGACCAGCCTAAAAAGAGACAGTCAAAAGGAAGCAGTACGGAAGAG[C/T]AGCAGAGTTCAACAAAATATGAAGGTGGTGATTATGATGATGAGGATAATTTTGACTATGAGGGCACAGATTCTGAATCTGAACCAAGTAGGCCTGTTAAACCTCAGGCTATATCTCGGCCTGAGTACTCCAACCGAGTAGAAAACAAACCAAAAAAACTCAGTGCTCCAGCTAGGCCCGCCTCGTCGTCAATGAACTTTGCAGATCTACTAAAACTTGCAGAAAAAAAGCAGTTTGAACCTGTGGAATTAAAAGTAGTGAAGAAGACAGAAGAGAGGCTTAGAACAGCAGAGGAGATCCGCGAACTTGAAATGGAGCGCAGAGTTAAGAAACTGGATAAAGGGAAGGATGTCAGATCAGACAAGAATTCAGGACAGAAAGACAGCCGATCTCAAACCAGCTCAAATCCTCAAAAGAAGCATGTAGACAGAGATGGCAAAAATGGAAGATTTCCAAGGCCATCAGAGGAGAAGCACCAGTCAAGCAGTACCAGCAAAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25228
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046349 Essential Splice Site 381 487 None 7
ENSDART00000073527 Essential Splice Site 523 629 None 6
ENSDART00000132790 None None 58 None 2
ENSDART00000146073 None None 55 None 2
Genomic Location (Zv9):
Chromosome 25 (position 24964086)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 24143199
GRCz11 25 24240747
KASP Assay ID:
554-7769.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGACTGTGATTGGTCCCTCGGGCCACAGAATACTGGTCAAACCTTCTGG[T/C]AAGTAATATGAGAAGTGTTTCATGAACTTTTAATTTTAAGAGAGCTACAG
Long Flanking Sequence:
CAGGCGAAATCAAGTATTTCGGGAAGTTGTCCTCCTGGTGCAGCTAGACCAGGTCAAGGACCACATAAAAACTCAGCTCATGGAAGACCTAGTAATTTCAGTACCAGTGGACCTTCTCAGAAACCAGCAAATCCAGGGAAGTTATCGCGACCTGGGAGCAATGCTCCACCTCGGCCTGGTGGCAGTGGAGTGGTACGACCCTTCACTGGTGACCCCTCGAAGCAACCGAGACCAGGTGGTAATTTGCAAAGTCAGCAGTTTCCAGGAAGCTCCAGAGCTTCTTTAAATGGACCAAAGCGAATGGAACGTGGTGTTTCTGGGTCACAGATGAACAGGATGAGCTCTGGCCCCGGAAGATCCCAGTGCACTGTTGTTTCAGAGACCATTTCAACAAAGAACATTACACCGAGACCTGGGATGGTCCAAAGACCCCCAGGGCCACAAGGTCCCAGGACTGTGATTGGTCCCTCGGGCCACAGAATACTGGTCAAACCTTCTGG[T/C]AAGTAATATGAGAAGTGTTTCATGAACTTTTAATTTTAAGAGAGCTACAGACTCAACAAATTCCTTTAGTAGGAAAAAAGTTAGTAGTTCATATTTTTTTTCTCCCAACTTTACAATGTAAAAATGATCTTGTTAAATGACAGGGCATCTTTCTTATTCAAATATTATACAAAATTTTCAATTTCTAACTTTATAAACTTATCACTAAGGCCTTTTGTTTACACCTGATGTTATGCTTAAAAAAAGGATTTGATGTACTTAATTTTTGGTGAATATTGCAAGTTAAAGTACTTAACATTAATACTTAACATAATAATAAAAACATGTTTTTGGTGACTGAAATTACAGTCAGAAGTCACACACAAAAAACTGATTTTAGACATTTTTTTTCCTGCATCTCATAAGTGATATGTTCAAAGAGGGGAAGTGTTTATTTTTGTAAGCATTCTGTTTTTTTGTGAAGCCACAAATTATTTATTGCAGTTCATAAACATGAAAGA
Associated Phenotype:
Not determined