Busch Lab

ZMP

SMC6 (2 of 2)

Ensembl ID:
ENSDARG00000091821
Description:
structural maintenance of chromosomes 6 [Source:HGNC Symbol;Acc:20466]
Human Orthologue:
SMC6
Human Description:
structural maintenance of chromosomes 6 [Source:HGNC Symbol;Acc:20466]
Mouse Orthologue:
Smc6
Mouse Description:
structural maintenance of chromosomes 6 Gene [Source:MGI Symbol;Acc:MGI:1914491]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa36304 Nonsense Mutation detected in F1 DNA Not yet available
sa36305 Nonsense Mutation detected in F1 DNA Not yet available
sa36306 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa36304
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
ENSDART00000123503 Nonsense 355 1093 11 27
Genomic Location (Zv9):
Chromosome 17 (position 6441715)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 6520651
GRCz11 17 6677881
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAGAAACTGCAGGACAGCCAGAAACATCTGTGTACGCTTCGAGAGGAG[C/T]AGGAACATCTCACAGAGGAGAGCCGGAAAATGAAGGAGGAAATTAAAGTC
Long Flanking Sequence:
TATAAATAAATATAACACTATAATAAATATAAAATCATCTATAATGATTTAATGAAGTAAATATTCTGCCTTGTCTATTAAACGTTAAATACTTCTGACTGAAGTGTAAGAAAATAACCTGTTTTAACCCATGTAGTGGTTACATCAGTCAAATCAATGACAATGAGCATGATTTTTTTTCAGTCGTCTTCCCACCACTGTTAAATTGTATGCTAAAAAGTATAGTTTTCTGATTTATTTTAAAAAGTACAGGTCAAAAAAAGCAGCAATTCTCATATATTGTTAATAAAACTGTTGAATGTAACTGTTACTCTGAATGAGGAAGGAATATTGTTTCACCTGTGTTTTGACATTTTACTTTCAGTTTTGTGCAGGCGTCTTATCACTGACCCCATAAACATTAGTTGTCAACTAATCGTTTTGTCTTTAAGAACAAAGTTGCTGTTGCTGAGAAGAAACTGCAGGACAGCCAGAAACATCTGTGTACGCTTCGAGAGGAG[C/T]AGGAACATCTCACAGAGGAGAGCCGGAAAATGAAGGAGGAAATTAAAGTCAAAACAAAAGCACAGAAAAGCCAGGAGGTGAGATGTCTTTGCTTTCTATTTTTTTAATTGAGTTCTTATGCAATTTTATTATTTATATATATATATATATATAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACAGTTGAAGTCAGAATTATTAGCCGCCCTCTGAATAAATTTTTTTTTTTTATATTTCCCAAATGATGTTTAACAGAGCAAGGACATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGGAGAAAGTCTTATTTGTTTTATTTCGGCTAGAATAAAAGCAGTTCTTAATTTTTTAAACACCATTTTAAGGACAAAATTATTAGCCCCTTAAAGCGGCGCGCCGCGCTGCGCCACGCAGCGCCATGTATTTTAGAATTCTAAACATAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36305
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123503 Nonsense 699 1093 18 27
Genomic Location (Zv9):
Chromosome 17 (position 6456729)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 6535665
GRCz11 17 6692895
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTTACAGTCTAGTGAACGGAGAGCTGGAGAACATTCAGGCTCAGCTTT[T/G]ACGCTTCCAGCTTCACTCCTGCTCTGTGAAGGAGGACATTCAGCTCATGG
Long Flanking Sequence:
TTTGCATTGTGTCTGTTCATCAAGACGACGACATGGTTTGTTTGAGCCCGGGTCATCCATGGCTGGTTATTTTATGCGTATAGTAACGTTATATCCATGTAATCTCTCGGCTGTGTATTAGAACATGGCGGATCCTTTGTTTACATTCTGTATAGCTCCACAAGCTCGTGACGTATCTCGGTAACCAATCAGCGTTCGGTTGCGCGTGTAGCTCCACCTTTTGCTACCCTTTCTCGTTTTTGGGACCCTTTTGAAAGGGTGCCGAAAAAGTGGTACGGTACGGTTTGGTTCGGTAAACAGTGGAAACGGCCATAAAAGCGTACCGAACCGTACCGTACTATACCACTCAGTGGAAACGGGCAATTAGTGTCCTGCACTACTGAGGAATATCATTAACAATATCTAGTGTTTGAATACTTTTTGGCTTGACTATACGTGCTCCTCTGTCCTGATTTACAGTCTAGTGAACGGAGAGCTGGAGAACATTCAGGCTCAGCTTT[T/G]ACGCTTCCAGCTTCACTCCTGCTCTGTGAAGGAGGACATTCAGCTCATGGAGGAGAAATTGCGTAGTGTTATCATGGCCTGCAAAAAGAATCAGGTATTGACATGCACAGGCTACACAATTAGCCGTTTTCAACTATCGTACATGTATAAAGTTAATTAGCAACAATGTGTGAATATAATCAGCTTTTAATGGTAAAAATGTATTTTGTTTACTTTTTATAATCATACTTGCAGGAACACTTTGATTGACATTCTCCCTTTGTATGTGTCATCAGAGCGGGAAAGCCCCGTCCATTAGTGACCATCTCTTCCTCATTAACATAGGACGTCAGTCTTGTTTTTGAATCTGCCACTATGCTGACACAAAGGCATTTGTAGCTTCGCCCTCTTTTGAAAAGAGCACAATCTCATTTGAATTTAAAGCGACAGTCACCAAAATGTCACAAATAGAATCAAAGCCTAAAACGGTCAGTTTCAAAGAGTTATATAACATCTTTCGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36306
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123503 Essential Splice Site 730 1093 18 27
Genomic Location (Zv9):
Chromosome 17 (position 6456825)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 6535761
GRCz11 17 6692991
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGGAGGAGAAATTGCGTAGTGTTATCATGGCCTGCAAAAAGAATCAGG[T/A]ATTGACATGCACAGGCTACACAATTAGCCGTTTTCAACTATCGTACATGT
Long Flanking Sequence:
ATGTAATCTCTCGGCTGTGTATTAGAACATGGCGGATCCTTTGTTTACATTCTGTATAGCTCCACAAGCTCGTGACGTATCTCGGTAACCAATCAGCGTTCGGTTGCGCGTGTAGCTCCACCTTTTGCTACCCTTTCTCGTTTTTGGGACCCTTTTGAAAGGGTGCCGAAAAAGTGGTACGGTACGGTTTGGTTCGGTAAACAGTGGAAACGGCCATAAAAGCGTACCGAACCGTACCGTACTATACCACTCAGTGGAAACGGGCAATTAGTGTCCTGCACTACTGAGGAATATCATTAACAATATCTAGTGTTTGAATACTTTTTGGCTTGACTATACGTGCTCCTCTGTCCTGATTTACAGTCTAGTGAACGGAGAGCTGGAGAACATTCAGGCTCAGCTTTTACGCTTCCAGCTTCACTCCTGCTCTGTGAAGGAGGACATTCAGCTCATGGAGGAGAAATTGCGTAGTGTTATCATGGCCTGCAAAAAGAATCAGG[T/A]ATTGACATGCACAGGCTACACAATTAGCCGTTTTCAACTATCGTACATGTATAAAGTTAATTAGCAACAATGTGTGAATATAATCAGCTTTTAATGGTAAAAATGTATTTTGTTTACTTTTTATAATCATACTTGCAGGAACACTTTGATTGACATTCTCCCTTTGTATGTGTCATCAGAGCGGGAAAGCCCCGTCCATTAGTGACCATCTCTTCCTCATTAACATAGGACGTCAGTCTTGTTTTTGAATCTGCCACTATGCTGACACAAAGGCATTTGTAGCTTCGCCCTCTTTTGAAAAGAGCACAATCTCATTTGAATTTAAAGCGACAGTCACCAAAATGTCACAAATAGAATCAAAGCCTAAAACGGTCAGTTTCAAAGAGTTATATAACATCTTTCGTGTGGTATTTTGAGCTGAAACTTCATATACATCCCTCTAGGCACATCAGAGATAATTTTACTTCTTGTAAAAAGCTGCAAAACAGGACCTCTTCAAA
Associated Phenotype:
Not determined