Busch Lab

ZMP

spg11

Ensembl ID:
ENSDARG00000045968
ZFIN ID:
ZDB-GENE-101017-1
Description:
spatacsin isoform 1 [Source:RefSeq peptide;Acc:NP_001181923]
Human Orthologue:
SPG11
Human Description:
spastic paraplegia 11 (autosomal recessive) [Source:HGNC Symbol;Acc:11226]
Mouse Orthologue:
Spg11
Mouse Description:
spastic paraplegia 11 Gene [Source:MGI Symbol;Acc:MGI:2444989]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa30173 Nonsense Mutation detected in F1 DNA Not yet available
sa32507 Nonsense Available for shipment Available now
sa44211 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa30173
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
ENSDART00000067558 Nonsense 627 1365 13 25
Genomic Location (Zv9):
Chromosome 25 (position 1150776)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 1018817
GRCz11 25 1103360
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGAGGAGTGTGTGAGGATCATGGAGGAGCTGCAGGACGCCGGACTCTA[C/A]ATGCAGGCGCGCAGAGTCGCAGAGCTGGCCGAGCTGCCCGCACACACACT
Long Flanking Sequence:
CAGCGTTTCATCTACTATCAATAATTATAATATAAATAATAATAATTGTAAAATACAATAGTCTTATATTCCAGAAATAGCAATAGGTGTATATAAATATATAAACATTACCTTCAAATATTTGACAATATTCATAAAGAAAATATTGTTATTACTAAAAAAAGACCAAATATGAATGATATTCAAACACTTTATGTAAAAAAACACAGCGTTTAAGAGTTTTTTTAAATGATTATTTCTATTACTATTGTCACAATAATAATAATAATAATAATAATAATAATAAGACAATTGGGCAATTTTATGTGTGTGCATGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGTCCAGATTTCCGGCTGCTCAGTGAGCTCAGTCAGCTGCTGTGTGAGACGCCGGTGTGTGTGTCGTCTCGTCTGCTTGACTGTTATTCCCCCAGTGTCCTGCAGGAGGAGTGTGTGAGGATCATGGAGGAGCTGCAGGACGCCGGACTCTA[C/A]ATGCAGGCGCGCAGAGTCGCAGAGCTGGCCGAGCTGCCCGCACACACACTCATCATCAACCAGGTGAACAGACACACACACACACACACACACACACACACACACACGACAGATGCACACACACACACACACACACACACACACACACACACACACACACACACACAGAGACAGACAGGTGGAAAAACAATTGGGAAAAGACAAAACTTTGAATTTAAAAAAAAAAAAAAAAAAAGGTAAACAAGACATCATCTCTACTTGGATAATGTGTAGAAATTAGCATTTGTTAAATTACTCAATGCCTAATTTGCATATTATCTGAACAACATTTTAGGACACTTATAATTCAAGAAAACGTTTGCAATACTTAATGTAATCAGTTGACTTGTGAAGTTTGATGATTAAAATTTACCTTCATGACAGGCAGTGCCTTAAAAATAGCATTATTAACATCATCCAAGCTTAATTTCAATAAATGAATATTAATTTTTAAGGCTTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32507
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067558 Nonsense 917 1365 16 25
Genomic Location (Zv9):
Chromosome 25 (position 1146640)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 1014681
GRCz11 25 1099228
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTCCAGCTGCTGGTGGATCAGTGCAGCCACGGCAAGAGTTACTGCAAA[C/T]AAGTGCTGAGCCTCTACCAGCTCTCCAAGGTCAACACTGCTTTACTTCCT
Long Flanking Sequence:
GCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTCTTCCTATTTGAAATCATTAGCTTAGCATCATGCTAACAGTGTATTTTTTCCCTTTTAATTCATTAGCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTCTTCCTATTTGAAATCATTAGCTTAGCATCATGCTAACAGTGTATTTTTTCCCTTTTAATTCATTAGCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTTTCTATTTGATATCATTAGCTTAGCATCATGCTAACATCATGCCCTGATCTTTGATCTATGCCTTGGATCATTAGCTTAGCATCATGCTAACATCGGGTGTGTGTGTGTGTGTTCAGCTCCCAGTATGAGCTCCCTGTCGTCGTTTGTGGTGGTGTCGTCTCCTGATGATCAGCTCCAGCTTCAGCTCCAGCTGCTGGTGGATCAGTGCAGCCACGGCAAGAGTTACTGCAAA[C/T]AAGTGCTGAGCCTCTACCAGCTCTCCAAGGTCAACACTGCTTTACTTCCTGCTGCTCGCTTACAATGCTGTCAAGGCATAAGAAACAACATCATGCATGCATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTTGCATATGTCCATGTATTTGTAGGTATATGCATGTGTGCATGTGCATGCATGTGTATGTGTGTGCGTGTGAGTGTGTGCATGCATGTGTTGTTCGAGTGTGCATGTGTCTATGTACACCTTTGTATATATGTATGTGTGCGTGTGTGTGTGTCTGTGCGTGTTTGTGCATCGCCTTTGTATGTATATATGTATGCTTGCATGAGTCTGTGTAGTGTGTGGGTGTATCTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCAGGAGCTGCAGTGCTCGTTCTCTGAGCTGTGGTCCTCTGAGCCGGAGTGTGTCCTGCAGAAGGTGCTTCTGTCTCGTCAGTCTGAGCGCTGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44211
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
ENSDART00000067558 Essential Splice Site 926 1365 16 25
Genomic Location (Zv9):
Chromosome 25 (position 1146610)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 1014651
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGGCAAGAGTTACTGCAAACAAGTGCTGAGCCTCTACCAGCTCTCCAAG[G/A]TCAACACTGCTTTACTTCCTGCTGCTCGCTTACAATGCTGTCAAGGCATA
Long Flanking Sequence:
GATCTCTGTCTTTTTCTTCCTATTTGAAATCATTAGCTTAGCATCATGCTAACAGTGTATTTTTTCCCTTTTAATTCATTAGCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTCTTCCTATTTGAAATCATTAGCTTAGCATCATGCTAACAGTGTATTTTTTCCCTTTTAATTCATTAGCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTTTCTATTTGATATCATTAGCTTAGCATCATGCTAACATCATGCCCTGATCTTTGATCTATGCCTTGGATCATTAGCTTAGCATCATGCTAACATCGGGTGTGTGTGTGTGTGTTCAGCTCCCAGTATGAGCTCCCTGTCGTCGTTTGTGGTGGTGTCGTCTCCTGATGATCAGCTCCAGCTTCAGCTCCAGCTGCTGGTGGATCAGTGCAGCCACGGCAAGAGTTACTGCAAACAAGTGCTGAGCCTCTACCAGCTCTCCAAG[G/A]TCAACACTGCTTTACTTCCTGCTGCTCGCTTACAATGCTGTCAAGGCATAAGAAACAACATCATGCATGCATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTTGCATATGTCCATGTATTTGTAGGTATATGCATGTGTGCATGTGCATGCATGTGTATGTGTGTGCGTGTGAGTGTGTGCATGCATGTGTTGTTCGAGTGTGCATGTGTCTATGTACACCTTTGTATATATGTATGTGTGCGTGTGTGTGTGTCTGTGCGTGTTTGTGCATCGCCTTTGTATGTATATATGTATGCTTGCATGAGTCTGTGTAGTGTGTGGGTGTATCTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCAGGAGCTGCAGTGCTCGTTCTCTGAGCTGTGGTCCTCTGAGCCGGAGTGTGTCCTGCAGAAGGTGCTTCTGTCTCGTCAGTCTGAGCGCTGTAAGAAAGCAGAGGCCTTCATCAGTGCTCAGA
Associated Phenotype:
Not determined