Busch Lab

ZMP

LOC555649

Ensembl ID:
ENSDARG00000090449
Human Orthologues:
SP100, SP140, SP140L
Human Descriptions:
SP100 nuclear antigen [Source:HGNC Symbol;Acc:11206]
SP140 nuclear body protein [Source:HGNC Symbol;Acc:17133]
SP140 nuclear body protein-like [Source:HGNC Symbol;Acc:25105]
Mouse Orthologues:
A530032D15Rik, A530032D15Rik, A630001G21Rik, AC125149.1, AC125149.3, AC125149.7, AC125149.8, AC132444.2, AC132444.3, AC133103.2, AC133103.6, AC168977.2, C130026I21Rik, Sp100, Sp140
Mouse Descriptions:
RIKEN cDNA A530032D15Rik gene Gene [Source:MGI Symbol;Acc:MGI:3037746]
RIKEN cDNA A530032D15Rik gene Gene [Source:MGI Symbol;Acc:MGI:3037746]
RIKEN cDNA A630001G21 gene Gene [Source:MGI Symbol;Acc:MGI:2443131]
RIKEN cDNA C130026I21 gene Gene [Source:MGI Symbol;Acc:MGI:3612702]
Sp140 nuclear body protein Gene [Source:MGI Symbol;Acc:MGI:3702467]
nuclear antigen Sp100 Gene [Source:MGI Symbol;Acc:MGI:109561]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa20000 Essential Splice Site Available for shipment Available now
sa16412 Essential Splice Site Available for shipment Available now
sa16470 Essential Splice Site Available for shipment Available now
sa40060 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa20000
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123017 Essential Splice Site 244 599 6 15
Genomic Location (Zv9):
Chromosome 3 (position 24868260)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 24446471
GRCz11 3 24577019
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACTTTTAAACACACAGATGATCTGACAGCTGTTCCCTTCTCATTCTTTT[A/T]GGAGAATCATCTTCAGTGTCCACCGATGAAGAACAGAGATAGAACATCTG
Long Flanking Sequence:
TCTGCTTAAAATGTTGAAACTGCTTTTTCAACAGACATTTAGCTGACTATAGCCCTAACCCCAACCTAACAGTCTGTTTATAATCTAATGAGAATTAGTTGGCATGTAGATGCAGTGTAACTTAACTTCAACAAACGGACCATCAAAATAAAGTGTGACTTAATAAAGGTAAAAAGAGTCAGTGCCACAGAAGACTACTGAAGACCTGATGCAAATAAAAAAAAATCATAAAATTCAATAGTGTTAATATGTTTTCCTCCTGAATGCATATTTACTGTACCCCTTTTCCTACATCCCATGAAGCTCCGAGGGGGAGCAACCTGTACACCCATTAAAAGAGAATGGAACAGTAGTATTGTGCAAAAACAAGTGACATTATTTCTTACACTTTAAATTCAATAGTTTGTCCTGACTTTTACACACAAATGGAGTTACATTCAAAGAAGCACATACTTTTAAACACACAGATGATCTGACAGCTGTTCCCTTCTCATTCTTTT[A/T]GGAGAATCATCTTCAGTGTCCACCGATGAAGAACAGAGATAGAACATCTGTCCGAAAAGTATGATTCCTCCCTCTATTTGGTTTGTTGCTCCTCTTTTTTATTTTGGACATTCATCAAAACACTGTGTTTTAATCCTGTAGAGCAAGAAAAACATTTCTATTAGCTCATCTGAGAGCTCCAGTACAGGTGAGGCAGAATCATCCATCATTACATCATTGTTGGGATAAATTGCAGATCGTCTGTGTGTTTCCTCAGTAAGCTGGAGCTCCAGGAAGGCAACAACAACTGAGAGATGTGAATCCAACAGTTTATTGCTCTCTTCTAAAGAAGTCTGGGGTATTCCCAGCTTTTATACATCATACTCAGGGTTACATGGGCTATGAATACGTGCAAATATTCAGCTCAGTTAGGCAGAACAATTTTATCCAGTGCTCAAGAATGTCAAGGCGCAACGTCAAGGCACCTAGTACAGGGACAACTTACAATAAGATAAGACACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16412
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123017 Essential Splice Site 573 599 14 15
ENSDART00000123017 Essential Splice Site 573 599 14 15
Genomic Location (Zv9):
Chromosome 3 (position 24880075)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 24458286
GRCz11 3 24588834
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
YGCCTCTGACTTTCAGCTCATTTTCAGCAACTGCAGGAAATTTAATCGGG[T/C]AAGATTTTATGATARCATAATACAGACATCAACAWCAACAACAAAATATY
Long Flanking Sequence:
ATAAGTTGGCGGTTCATTCCGCTGTGGTGACCCTGGATTATTAAAGGGATTAAGCCAACAAGAAAACGAATGAATGAATAATTTATACTTCGAGGTTTTAATTTTGGGTGGCCCACAGATTTCCTAGGGCCATAAGCGGCTGCTTACCTTGCTTATTGGTTGAATCCTCCCCTGCTTGTATGGCTGAGGGTACTTTAAGGGTGTTTTGAGGAGCATTTGAAGTGGCACAAAGCATGTCTGCCATGTGGACAGTAAAATTGTCAATTTAGGTGTGGATTTAAAGTTGATGAAATGTGCATTCAATTATTCTACAATAGCATAAGAAATTTGCCAAAATAAACTGATGTATCCCCAGGTGAGAAGATACTCTGAGTTCATATCCGATCCAATGTGGCTGAACAGAATAAAGCAGAAGTTGAAAGATAACATGTATCAGAAGTTTGGAGAGTTTGCCTCTGACTTTCAGCTCATTTTCAGCAACTGCAGGAAATTTAATCGGG[T/C]AAGATTTTATGATAACATAATACAGACATCAACATCAACAACAAAATATTTGATCTATACATGGACCTATCTGTGCGTGATTATTGAATTTTGTTTTCTCTTTCTCTCGAAAGGATAACAAATTTGGCCAGTTGGGTGCCAAACTGAAAGAAATCTTTGAGGATGAGATCCAGAAAATCTTCTTTATCCAATAAGGGTTCTCTTTTTCTTTTGTCTTTCAAAGTTGATGGAGAAATCTAAGCAGCTTTGAATATTATAATGTAAATGAGATGTATTGCATTTCTTATCCCACTGCCCTAGGATGAATACTTTGGTTAATATTCTCGCTGCACACCTTTTTTATAATTCAATTTTTCTATGCAGTCATATATTATTTACAACATAGGTTACAGATGGTCATATATTATGTCTGTATTATCAGCCTTTTGTCCTCCTTATAGATTCTAATTACTGTCTACTGACTTTAAGGTGAAGGGTGTCATTTTTATAAATGCAAAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16470
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123017 Essential Splice Site 573 599 14 15
ENSDART00000123017 Essential Splice Site 573 599 14 15
Genomic Location (Zv9):
Chromosome 3 (position 24880075)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 24458286
GRCz11 3 24588834
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
YGCCTCTGACTTTCAGCTCATTTTCAGCAACTGCAGGAAATTTAATCGGG[T/C]AAGATTTTATGATARCATAATACAGACATCAACAWCAACAACAAAATATY
Long Flanking Sequence:
ATAAGTTGGCGGTTCATTCCGCTGTGGTGACCCTGGATTATTAAAGGGATTAAGCCAACAAGAAAACGAATGAATGAATAATTTATACTTCGAGGTTTTAATTTTGGGTGGCCCACAGATTTCCTAGGGCCATAAGCGGCTGCTTACCTTGCTTATTGGTTGAATCCTCCCCTGCTTGTATGGCTGAGGGTACTTTAAGGGTGTTTTGAGGAGCATTTGAAGTGGCACAAAGCATGTCTGCCATGTGGACAGTAAAATTGTCAATTTAGGTGTGGATTTAAAGTTGATGAAATGTGCATTCAATTATTCTACAATAGCATAAGAAATTTGCCAAAATAAACTGATGTATCCCCAGGTGAGAAGATACTCTGAGTTCATATCCGATCCAATGTGGCTGAACAGAATAAAGCAGAAGTTGAAAGATAACATGTATCAGAAGTTTGGAGAGTTTGCCTCTGACTTTCAGCTCATTTTCAGCAACTGCAGGAAATTTAATCGGG[T/C]AAGATTTTATGATAACATAATACAGACATCAACATCAACAACAAAATATTTGATCTATACATGGACCTATCTGTGCGTGATTATTGAATTTTGTTTTCTCTTTCTCTCGAAAGGATAACAAATTTGGCCAGTTGGGTGCCAAACTGAAAGAAATCTTTGAGGATGAGATCCAGAAAATCTTCTTTATCCAATAAGGGTTCTCTTTTTCTTTTGTCTTTCAAAGTTGATGGAGAAATCTAAGCAGCTTTGAATATTATAATGTAAATGAGATGTATTGCATTTCTTATCCCACTGCCCTAGGATGAATACTTTGGTTAATATTCTCGCTGCACACCTTTTTTATAATTCAATTTTTCTATGCAGTCATATATTATTTACAACATAGGTTACAGATGGTCATATATTATGTCTGTATTATCAGCCTTTTGTCCTCCTTATAGATTCTAATTACTGTCTACTGACTTTAAGGTGAAGGGTGTCATTTTTATAAATGCAAAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40060
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123017 Nonsense 585 599 15 15
Genomic Location (Zv9):
Chromosome 3 (position 24880222)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 24458433
GRCz11 3 24588981
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTTTCTCTCGAAAGGATAACAAATTTGGCCAGTTGGGTGCCAAACTG[A/T]AAGAAATCTTTGAGGATGAGATCCAGAAAATCTTCTTTATCCAATAAGGG
Long Flanking Sequence:
CTTGCTTATTGGTTGAATCCTCCCCTGCTTGTATGGCTGAGGGTACTTTAAGGGTGTTTTGAGGAGCATTTGAAGTGGCACAAAGCATGTCTGCCATGTGGACAGTAAAATTGTCAATTTAGGTGTGGATTTAAAGTTGATGAAATGTGCATTCAATTATTCTACAATAGCATAAGAAATTTGCCAAAATAAACTGATGTATCCCCAGGTGAGAAGATACTCTGAGTTCATATCCGATCCAATGTGGCTGAACAGAATAAAGCAGAAGTTGAAAGATAACATGTATCAGAAGTTTGGAGAGTTTGCCTCTGACTTTCAGCTCATTTTCAGCAACTGCAGGAAATTTAATCGGGTAAGATTTTATGATAACATAATACAGACATCAACATCAACAACAAAATATTTGATCTATACATGGACCTATCTGTGCGTGATTATTGAATTTTGTTTTCTCTTTCTCTCGAAAGGATAACAAATTTGGCCAGTTGGGTGCCAAACTG[A/T]AAGAAATCTTTGAGGATGAGATCCAGAAAATCTTCTTTATCCAATAAGGGTTCTCTTTTTCTTTTGTCTTTCAAAGTTGATGGAGAAATCTAAGCAGCTTTGAATATTATAATGTAAATGAGATGTATTGCATTTCTTATCCCACTGCCCTAGGATGAATACTTTGGTTAATATTCTCGCTGCACACCTTTTTTATAATTCAATTTTTCTATGCAGTCATATATTATTTACAACATAGGTTACAGATGGTCATATATTATGTCTGTATTATCAGCCTTTTGTCCTCCTTATAGATTCTAATTACTGTCTACTGACTTTAAGGTGAAGGGTGTCATTTTTATAAATGCAAAAAGTATTCTTGCACTTTTTCCTCATACGTTAAGCATTGAATAGGTTATTTGTAAAATGAATTCCATGATTGACCTAAAAAACCTATATTTTTATTGACTTTTGTTATTAATTATTTTACTTGTTTTTAGTCTTCTGTTCTGTTGTTTTGT
Associated Phenotype:
Not determined