Busch Lab

ZMP

sf3b1

Ensembl ID:
ENSDARG00000056138
ZFIN ID:
ZDB-GENE-040827-3
Description:
Splicing factor 3b subunit 1, 155kDa [Source:UniProtKB/TrEMBL;Acc:Q6DRD6]
Human Orthologue:
SF3B1
Human Description:
splicing factor 3b, subunit 1, 155kDa [Source:HGNC Symbol;Acc:10768]
Mouse Orthologue:
Sf3b1
Mouse Description:
splicing factor 3b, subunit 1 Gene [Source:MGI Symbol;Acc:MGI:1932339]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa27426 Nonsense Mutation detected in F1 DNA Not yet available
sa21516 Nonsense Available for shipment Available now
sa44706 Nonsense Mutation detected in F1 DNA Not yet available
sa31725 Nonsense Available for shipment Available now
sa5549 Essential Splice Site F2 line generated Not yet available

Mutation Details

Allele Name:
sa27426
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078568 Nonsense 423 1291 9 25
ENSDART00000129140 Nonsense 423 1315 9 25

The following transcripts of ENSDARG00000056138 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 33203814)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 32359760
GRCz11 9 32170506
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCGTCCATTGACTGATGAGGAACTTGATGCAATGTTTCCAGAGGGATA[C/A]AAAGTATGTGTTATAAAAGTATCATATTATGAAAATCTACAGAGCACATT
Long Flanking Sequence:
GTTTTTTTTTGTCTAGTTTGATGTGTAATCTGCAAATAGAGTGGTTTTTAAACCCTTTGTTTTGTCCGTTTCAGAAACACCTGGTCATGGCAGTGGCTGGGCTGAAACCCCACGTACAGACAGAGGAGACGAGTCGGTGGGTGAGACGCCCACTCCAGGTGCAAGCAAGAGGAAGTCAAGATGGGATGAAACACCAGCCAGCCAAATGGGCTCTTCAACTCCCCTGCTCACCCCTGGAAAAACCCCTCTGGGTACACCTGCTATGAATATGGCCACGCCCACTCCAGGTACATGACCAGTGCTGTTGTTTAGCTTAGTTTAGTTTGTAATTTAAATAATTGTTGTTTTGTGGAAGTTGCTTTAAAGGTTTAAATGTTTGCAGGTCACCTGATGAGCATGACTCCAGAACAGCTGCAGGCTTGGCGGTGGGAGCGGGAGATTGATGAAAGGAACCGTCCATTGACTGATGAGGAACTTGATGCAATGTTTCCAGAGGGATA[C/A]AAAGTATGTGTTATAAAAGTATCATATTATGAAAATCTACAGAGCACATTTGAACTGGATGTACTGAAATTGTGTGTCTGACTGGATTTATTTTGTGTGCTCCGCTAGGTTCTGCCCCCTCCAGCAGGCTATGTGCCCATCCGTACCCCTGCACGTAAATTAGCTGCTACTCCAACCCCTATTGGAGGCATGACTGGCTTCCATATGCAAACAGAAGACCGATCGATGAAACAAGTTAACGACCAGCCATCCGGAAACCTGCCCTTCCTCAAGCCAGATGACATTCAGTACTTTGACAAACTGCTGGTGAGTGCCATGTTCATACGGGATCTCAGGGTTATGGAAAAAATATATTCATTGAAATTTTTATTTTTCAAATGTATTATTAATAGTAATAGTTTTGTAATTGGAAGGTATATAATTTTATAATATCTCTGTTTGCAGGTCGAAGTTGATGAGTCCACGCTTAGTCCAGAAGAACAGAAGGAGCGCAAGATCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21516
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078568 Nonsense 466 1291 10 25
ENSDART00000129140 Nonsense 466 1315 10 25

The following transcripts of ENSDARG00000056138 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 33203582)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 32359528
GRCz11 9 32170274
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGAGGCATGACTGGCTTCCATATGCAAACAGAAGACCGATCGATGAAA[C/T]AAGTTAACGACCAGCCATCCGGAAACCTGCCCTTCCTCAAGCCAGATGAC
Long Flanking Sequence:
CCTGGAAAAACCCCTCTGGGTACACCTGCTATGAATATGGCCACGCCCACTCCAGGTACATGACCAGTGCTGTTGTTTAGCTTAGTTTAGTTTGTAATTTAAATAATTGTTGTTTTGTGGAAGTTGCTTTAAAGGTTTAAATGTTTGCAGGTCACCTGATGAGCATGACTCCAGAACAGCTGCAGGCTTGGCGGTGGGAGCGGGAGATTGATGAAAGGAACCGTCCATTGACTGATGAGGAACTTGATGCAATGTTTCCAGAGGGATACAAAGTATGTGTTATAAAAGTATCATATTATGAAAATCTACAGAGCACATTTGAACTGGATGTACTGAAATTGTGTGTCTGACTGGATTTATTTTGTGTGCTCCGCTAGGTTCTGCCCCCTCCAGCAGGCTATGTGCCCATCCGTACCCCTGCACGTAAATTAGCTGCTACTCCAACCCCTATTGGAGGCATGACTGGCTTCCATATGCAAACAGAAGACCGATCGATGAAA[C/T]AAGTTAACGACCAGCCATCCGGAAACCTGCCCTTCCTCAAGCCAGATGACATTCAGTACTTTGACAAACTGCTGGTGAGTGCCATGTTCATACGGGATCTCAGGGTTATGGAAAAAATATATTCATTGAAATTTTTATTTTTCAAATGTATTATTAATAGTAATAGTTTTGTAATTGGAAGGTATATAATTTTATAATATCTCTGTTTGCAGGTCGAAGTTGATGAGTCCACGCTTAGTCCAGAAGAACAGAAGGAGCGCAAGATCATGAAGCTGCTCCTGAAGATAAAAAATGGAACACCTCCCATGAGAAAGGTTAGCATCATCCCTAACACTCGAGTGTAAAAATTTTGCTTAAAGTATCTCTAACCAATCTGTCTCCTTTCAGGCTGCTCTTCGTCAAATCACAGATAAGGCCAGGGAGTTTGGTGCAGGACCCCTCTTCAACCAGATCTTGCCACTGCTAATGTCTCCTACACTGGAGGACCAGGAGCGCCATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44706
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
ENSDART00000078568 Nonsense 830 1291 17 25
ENSDART00000129140 Nonsense 830 1315 17 25

The following transcripts of ENSDARG00000056138 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 33201790)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 32357736
GRCz11 9 32168482
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCAATTACATTAAAACAGAGATCCTGCCCCCCTTCTTTAAACATTTCTG[G/A]CAGCACAGAATGGCATTGGATAGGCGCAACTACAGACAGGTAAGTTTATC
Long Flanking Sequence:
TGCTGCCTTGGCTGAAGCTGCTACACCATACGGTATCGAGTCCTTTGATTCTGTCCTGAAACCTCTTTGGAAGGGTATCAGGCAACACAGAGGCAAGGTAAGAGTGGTTTGATCAGTGCTTTCAGATGTGGGTTGCAACCTAAGAAGCGTCAGTTTAACAGCATTATTCATGTCTGCTCAGGGTCTTGCTGCCTTCTTGAAAGCTATTGGATACTTGATTCCTCTTATGGATGCTGAATACGCCAACTACTACACCAGAGAAGTGATGCTTATCCTCATTCGAGAGTTCCAGTCACCTGATGAAGAAATGAAGAAGATTGTCCTTAAGGTGCTTTGAGGGGGAAAATCAAAGCATTAAGATGTGGTCTTTCAGAATATTTTGGTCTTATGCATTTTATTCCTATTCTTTTTTAGGTGGTGAAGCAGTGCTGTGCCACAGATGGTGTGGAAGCCAATTACATTAAAACAGAGATCCTGCCCCCCTTCTTTAAACATTTCTG[G/A]CAGCACAGAATGGCATTGGATAGGCGCAACTACAGACAGGTAAGTTTATCACGCAGGTTTGAGTAACTGTGACTAATGCACATTTAACTTGATGTTTTACTGCCTTAACAGTTGGTAGACACTACAGTGGAGCTGGCCAATAAAGTAGGGGCAGCTGAGATTATCTCCCGTATCGTGGATGACTTGAAGGATGAAGCTGAGCAGTACAGAAAAATGGTGATGGAGACCATTGAGAAAATCATGGGTAACCTTGGTGCCGCTGACATTGATCACAAACTGGAGGAGCAGCTTATTGATGGTATCCTGTACGCCTTCCAGGAACAAACCACTGAGGTGAGTAACAGACTTGCCTGAATTTAAATGATTGCTTTTCTCTTTTTCCTTAATGCCATAATCTCTTCTCAATCTCCAGGACTCTGTGATGCTGAATGGTTTTGGTACGGTGGTAAATGCTCTGGGTAAGAGAGTTAAACCGTACTTGCCTCAGATCTGCGGTACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31725
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
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078568 Nonsense 997 1291 20 25
ENSDART00000129140 Nonsense 997 1315 20 25

The following transcripts of ENSDARG00000056138 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 33201039)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 32356985
GRCz11 9 32167731
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTATGGGCCATTTGGGTGTGGTGTTGTATGAGTACCTGGGAGAAGAATA[T/A]CCTGAAGTGCTGGGTAGCATTCTTGGAGCCCTGAAAGCCATCGTCAATGT
Long Flanking Sequence:
TTGGTGCCGCTGACATTGATCACAAACTGGAGGAGCAGCTTATTGATGGTATCCTGTACGCCTTCCAGGAACAAACCACTGAGGTGAGTAACAGACTTGCCTGAATTTAAATGATTGCTTTTCTCTTTTTCCTTAATGCCATAATCTCTTCTCAATCTCCAGGACTCTGTGATGCTGAATGGTTTTGGTACGGTGGTAAATGCTCTGGGTAAGAGAGTTAAACCGTACTTGCCTCAGATCTGCGGTACAGTTCTGTGGCGTCTCAACAACAAATCTGCCAAAGTCCGTCAACAGGCTGCTGACCTGATCTCTCGCACAGCGGTGGTTATGAAGACATGCCAAGAGGTAGGGATGACCATTTGAGATTTTGTGAACTGGAAAATTTTATGGGTTAAATAGTAAGTTGCTTACTGATAAATTTCTTGCTCTTATATTTCACTCTAGGAAAAGCTTATGGGCCATTTGGGTGTGGTGTTGTATGAGTACCTGGGAGAAGAATA[T/A]CCTGAAGTGCTGGGTAGCATTCTTGGAGCCCTGAAAGCCATCGTCAATGTCATTGGTGGGTGTTTGCTAATTTACTAAAAGTGGAGCTTGCTAATATAAACCATTATAAGGGATATAAACAAAAACAATGGTCCTAACATATTTCCTGTTTTACATTTTTAATTTTCTATAGCTTTCCAGAATCCAAAAAGAGCCACATATTGATATTGTTATGATAGCTGTTTTATTAATAATTTATGATTGAATTGCCTCTTGTTACAGTTATGAAATAATTTGGTAACAAGAAGAAAATGTTCATGGCCCAATGACATGACCACATTGAAATGGTCTATATAGATGTAATATTAAATGTTCTCTTGTATTGTATTTTTTGTTCACACATTTGTTTGTGAAAAATATACTGCCAAAAGAAAAATATACTGCCAAAAAAAGTTGGTAAATCTATCAAGCTTATGAATGAATTTTGATTTTGAATATTTATTTATTTATTTTGGTTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5549
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078568 Essential Splice Site 1016 1291 21 25
ENSDART00000129140 Essential Splice Site 1016 1315 21 25

The following transcripts of ENSDARG00000056138 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 33199708)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 32355654
GRCz11 9 32166400
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCTGTGTTTAAGGGAAACCAGGGTTTAAATGTTTAAATGTCCTGTTTGC[A/T]GGTATGCACAAGATGACGCCTCCTATCAAAGACTTGCTTCCACGTTTGAC
Long Flanking Sequence:
GACCTCTGGCATTGGCTGACATTGACACGCACCTCTCAAAAATGTAACTACATCTGTGATTGGTAGACTTTGTAGTGTAGGCGGGGCTAAAAGAGCAGTGAGCCCATTGGAGCGAGTGTATTCAAGTGTGGAGTCCCATGGAGAAGCTCCAGTTGGAAACTTTTGTTTGTGATTACCTTATGATTAAAGTTGTTGCATGTCTGCAGGTTGCTGCTTCTGAATGAGTGAGTTTGAGCTACTTTTACATTAAGGTAGCTTTAAGAAAAACAAAACACCCGTTAAGAAACTAGACACAGCGGAACATAAAATCCCAATGGCAGCTAGCGTTTCTGAAGTGTAATTGCAGAGCAACACAAAAAGCATGCAGAAGTCTAAATGCTCAGTTATGGGCAATGCAGGCATCGTGGGTCACGGTGATCACTTGATGTAGAAGTATATATCACCTTAATAGGCTGTGTTTAAGGGAAACCAGGGTTTAAATGTTTAAATGTCCTGTTTGC[A/T]GGTATGCACAAGATGACGCCTCCTATCAAAGACTTGCTTCCACGTTTGACTCCCATCTTGAAGAACAGACATGAGAAGGTGCAGGAGAACTGCATTGATCTTGTGGGCAGAATTGCTGACAGGTCAGTGTCACGTCTCTGTGCAGAATCCTAGCTATTTAGTCTTGAAAATATTTTGATAATGCCTTCTAAACGTATCAATGTGTCCCTTTTCAGGGGTGCGGAGTACGTGTCTGCCAGGGAATGGATGCGCATCTGTTTTGAATTGTTGGAGTTGTTGAAAGCCCACAAGAAGGCCATCCGCAGAGCTACTGTCAACACTTTCGGCTATATCGCCAAGGCCATTGGGTAAAAAAAAAAGAAGAAAAAGAATCTTACTGTTAACGCATAATCTGTCATTAGCAGGTTGGAAATGAGTTTAAAAAATTTTTTTTGTTTTGTTTTTTCCTAGTCCGCATGATGTGCTGGCCACACTGCTCAATAATCTTAAGGTGCAGGAGC
Associated Phenotype:
Not determined