Busch Lab

ZMP

zgc:136773

Ensembl ID:
ENSDARG00000018049
ZFIN ID:
ZDB-GENE-070928-1
Description:
splicing factor 3B subunit 2 [Source:RefSeq peptide;Acc:NP_001098747]
Human Orthologue:
SF3B2
Human Description:
splicing factor 3b, subunit 2, 145kDa [Source:HGNC Symbol;Acc:10769]
Mouse Orthologue:
Sf3b2
Mouse Description:
splicing factor 3b, subunit 2 Gene [Source:MGI Symbol;Acc:MGI:2441856]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa8422 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa40832 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38593 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa8422
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000015873 Essential Splice Site 48 826 2 22
Genomic Location (Zv9):
Chromosome 7 (position 7562065)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 6621152
GRCz11 7 6756850
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
RTCCAGGTCCAAGAGAGGAGCTCATAGACAGACTGAAATCTTRTGCACAG[G/A]TAAATTAGTTAAGGKTTTTAATTACAGATACRACGTTATTTACRNTTTTTT
Long Flanking Sequence:
CGAATTTGGTGCTCCCAATATGGGTAAGTTAACAACTCTTTCATTACATCGCTGCGGGACAGTATCGCTGAGTTTTTCATTTGTTAGCTAGCGTTAGCCTGTTAGCCTGTTATTTTCCTGTCCGGTGCCCGGGCCTCAGTGCACCAAACGACGCGCTTACACATGTTGTTCATTGAAATGTGTGTTGGAAAGCTGGTTTTGCTCTTGATTTTGCTGCTAGTAATGCATTAAGTCGTGTATGTGATATAAGTAAAGTGTATGATAAGTCGTCCCCGGTTGAACCGAGTGAATGTTTTTGTCTGAACGGGAAATGCAATGGGATTTAAGTGCAGAACTTTTTATACACACATTTTTATACACACCAATACTTTAGCTGCATAATAAATCGTGTAAAATGTCTAATTCACTGTTTATTATCATCATCATTTAAGTTACCTGTGGTTTTCTGTTATCCAGGTCCAAGAGAGGAGCTCATAGACAGACTGAAATCTTATGCACAG[G/A]TAAATTAGTTAAGGGTTTTAATTACAGATACAACGTTATTTACATTTTTTTTGTCCTAACATAATCTTTATTACGTTTTCAGCCTGGCATGATCTTTAATAAACCAAACATACCAGGAGAAGACAAGAGCTTGACCACGGTACTGTGTCCTTTCTCTTATTCTCTTAGCAGTATAGTTCACCACAAACATGTAAATTCTGTCACTTTCTCACCCTTTACTTGATCAAACCCTGTTTGTTTTTGTTCAGTTGAACGCTGAAGAAGACGTTTTGAAGAATTGTGTAAACCTGTAACCATTGATTTCCATTGTTGTCCAACTATGGAAGTCAATAATTACATGAGTAACTCCATGCAAATGTGAACCTTGCCATGATAAAACTACGCTTCAACCAAAATAGCCAAACTGTTTCTACATTTTTGGTGTAATGACAAGTGACACAAGTGCCAATTTTACATTTGTCACATACATAGCGAAGCTTTTTCCTCAAAAATGCAAAAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40832
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
ENSDART00000015873 Essential Splice Site 120 826 5 22
Genomic Location (Zv9):
Chromosome 7 (position 7564841)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 6623928
GRCz11 7 6759626
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGCTATGGAGCCACCGGGTATGATGCAGCATGACGACAGGGGCCCACAG[G/T]TAAGAGACAGAAGCTGCATCCCAAATCGCATACTTATGCACTATTCTGCG
Long Flanking Sequence:
GAATGTGAACTATCTCTAATGTCTTGGTAATCTAATAGTCACTTTGCTCCCGTTTGTTGTTAAGCTTTAGATCACCAATCTCGGTCCTGGAGGGCCGGTGTCCCTGCAGGGTTTACCTCCAACTTGCCTCAACACACCTGCCTGAATGTTTCAAGTATACCTAGCAAGACCTTGATTAGCTTGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAAATCTGCAGGACACCGGCCCTCCAGGAACAAGTTTGGTGACCCCTGCTTTAGAATATAAAAGCTATAAGATTTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTTTGTGTGTGTGTCTCAGATGCCCGGTCTGCCACCCATGCCCCCTATGCCTTCGATGCCCCTGCCGCCTAGCATGAACATGATGCAGGCCATGAACATGATGCAGAGTGGGAGGCCCTCCACCGATACACATGGCTATGGAGCCACCGGGTATGATGCAGCATGACGACAGGGGCCCACAG[G/T]TAAGAGACAGAAGCTGCATCCCAAATCGCATACTTATGCACTATTCTGCGCCATTTTGTAGTCTAAATAGTGTAAGTAGTGCGTTCACACTGAAAACTCTGAAAATAGTAAGTGCACTTTAATTACCCGGATGATGCACTCATTCAGCCGGTAAAGTGAAGTGTGTAAAGATGGACACTTCACACACTCAATGACCACAGTTTTGCTCACGTAGCGGAAGGGGCGGAGCTATTGGGTGCACATGTTGGATAACTTTATATATTTTGGATGGTGAAAGCAAAATTCTCCTACGAAAGTGATTATAGCGCCCCCGATGGTGAATGCGGTTATACTCACGGCAGGTATTATTTGATAATTCAGTAATTTATTTCACTGATTTAGCAATCATCAAACGTCATCAGGGAAACGGTTTGAATTTCTGCTTAGTAAAAAAACATTAGTGTGCCATTTGAGACGCAGCTAGAGTGAGAGAGTCTTTCCATTGTTAAAACCGTAAAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38593
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000015873 Essential Splice Site 232 826 9 22
Genomic Location (Zv9):
Chromosome 7 (position 7573981)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 6633068
GRCz11 7 6768766
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCAAACTGTCTCATGATTAAGTTTCTGTCTTTTGTCTCCTGTTATTTC[A/G]GAGGATGATGATGATGATGATCTCGCGGAGCTGACTAATATTCACGGATA
Long Flanking Sequence:
ATCTGTTTGAAAAGTACATCCTGAGTGAAAATATGCTGAATGAGAGTGAACTGCTGAACTGCACTTAAAGTCTAAAGATTAAAAATGAAACGCCTGAAATTACATGAAACTCTGGAGGAAGCGCATGATAGCCTGGTGATGCCAAATTAAATGTTTTATACTGAAACTTTCCTTCTAAAAGTGCTTCCTTGGTCTTATCCAAATTTCTTAGCACGTTAAACGCACGTCGGCCACAAAAAGAAATTAAAAAACTGCAACTGCGTTAATTTTTTTAACGCGTTAAACCAATCACGTGCGTTAACGCACTAATTTTGACAGCCCTAGTTTTGACAATTATTTTATCCAAAAGTCAATATTTATATTTGAAATATGAAATGGAGATGGGTTGAATTCTCTCTGGGTCTGGACTTAGAGAAGTGCTCATATGTAGGCTGTATAAACTCTGTAAATAATCAAACTGTCTCATGATTAAGTTTCTGTCTTTTGTCTCCTGTTATTTC[A/G]GAGGATGATGATGATGATGATCTCGCGGAGCTGACTAATATTCACGGATATTCAGATGAAGATGACGAAAACAGTCTGTCTAAAAAAGACGTGAGCTTTACTCTCCGTCATCCATCCAGGTTGCTCTCCTGATCACTTGTGCTGAATTTGTTCTTGTGTACTTGCAGAAAAACCGTAAGCGCAGGAACAGGAAGAAGAAGAAGAAGAAGAAGCAGCGTGAGCAGGAGAAGGAGCAGCAGGACGAGGAGAAGAAGAAAGATGAGAAGGAGCCGGAGGTGGAGATCGAGTACGTGACAGAGGAGCCGGCCATCTATGACCCCAACTTCATCTTCTTCAAGAGGATCTTCGAGGCGTTTAAGGTCAGAAACTGCTTTCATTTAAAAGGTCACGATCCACACTCGTTAAATAATTACTTTATTTCTTTATTTTTTTTTTACAGATTAAGGTTTTTCGATTTTGAGGGAAATCATATTTTGACGACTTTGTGTTTTCTCCATTGT
Associated Phenotype:
Not determined