Busch Lab

ZMP

C9orf172 (1 of 2)

Ensembl ID:
ENSDARG00000076268
Description:
chromosome 9 open reading frame 172 [Source:HGNC Symbol;Acc:37284]
Human Orthologue:
C9orf172
Human Description:
chromosome 9 open reading frame 172 [Source:HGNC Symbol;Acc:37284]
Mouse Orthologue:
Gm996
Mouse Description:
predicted gene 996 Gene [Source:MGI Symbol;Acc:MGI:2685842]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa40354 Nonsense Mutation detected in F1 DNA Not yet available
sa15509 Essential Splice Site Available for shipment Available now
sa33524 Nonsense Mutation detected in F1 DNA Not yet available
sa12476 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa40354
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
ENSDART00000111759 Nonsense 86 991 3 7
Genomic Location (Zv9):
Chromosome 5 (position 5496399)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 5034189
GRCz11 5 5526548
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTCACAGCCAACGGCTGCTGAGATGCCTGCTGAAATTGCGGTGACGGAA[C/T]AAAAGCGGAGGACTAGATCTAGAAGTGCCTCACGGGTTCAGACCAGCCTA
Long Flanking Sequence:
AAAGTAAAACTAATCTTGTTATGTTTTCTTGCTCTCTTACAGGGAACCTTAACCTAAACAAATTTAATGGGGAAAATAAGAAGAGTCTCATTAAGATGACACGCACAGATCCACCTGACATACTAGTATCAACTGTGTATCAAGATGTCAAAGTGAGTTCCCTCTCAACCCACTCCAAAGCCTGTCATCCCTCAAAACAATGTGATTCCCCATCTGTCAGCAAACTGGAGAACACTCGAAAAAAAAGCAAAAACAAAAAGAGGCACTGCCGTAGCTTTGACACTGAGTCTATGGACAAACTCCGATATCATACAATAGCAATGGAGTACCCATACAGAAGGGCTGAAAGATACGCGGCCAATCCAGAGGTTGCCTGGAACGCCTTAGGTCGCCAACAAGGGCATGGACTCCACCGGTTTTCTTCCCCAGACATATTTAGCTACCGTCTCACCTCACAGCCAACGGCTGCTGAGATGCCTGCTGAAATTGCGGTGACGGAA[C/T]AAAAGCGGAGGACTAGATCTAGAAGTGCCTCACGGGTTCAGACCAGCCTAACTCCTGTATCTTTTGATGCTTCCCCGCCAGTGGCAAGAAGGGGTCGGGAGGCTCAAAGGGCACACAGAAACAGTCAGCCAAGGCCAGAAGTTTCCCCAAGAAGAGAGTCTTCCTATGGTGCCACGCGAGCACATGTAAACGAAGTACACCCTGTCAAACTGCAGCCGCAAAGGAGTGATACAAGCAGGTATTCCCCTGTATATGTGCCTGAAGGTTATGATGAAGGAAGGCCAGAAAAGCCTGCCACTAGTCCTCATGTTCGGTGCCGGGTAGACATCAAACCAGATGAGTCGGCCATGCAGCAAGGTGGCCGAAAGGCAGCTACACCCCAAGTGGACATACCTTGGCAGAAGTATCCAGGCAGTGGCAGTAGGAGTCTGACAGTGCCTCGCCATTTCTCCACTTCAAGAACTCCAACTCCAACTGAATCCTACATGGGAGAATACAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15509
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111759 Essential Splice Site 321 991 4 7
Genomic Location (Zv9):
Chromosome 5 (position 5495650)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 5033440
GRCz11 5 5525799
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTTATTATYAAGATGACCGATACAGCATTCCTAGCCAACCCTACTCACC[T/G]AAGGTACAATATGTACAGGWTCCAAGGACTCACATTGTTCATACTGTACC
Long Flanking Sequence:
GTATATGTGCCTGAAGGTTATGATGAAGGAAGGCCAGAAAAGCCTGCCACTAGTCCTCATGTTCGGTGCCGGGTAGACATCAAACCAGATGAGTCGGCCATGCAGCAAGGTGGCCGAAAGGCAGCTACACCCCAAGTGGACATACCTTGGCAGAAGTATCCAGGCAGTGGCAGTAGGAGTCTGACAGTGCCTCGCCATTTCTCCACTTCAAGAACTCCAACTCCAACTGAATCCTACATGGGAGAATACAGGCAGGCGTACCAGTATTCCCAAAGTATGCCAAATAGCTACATGCAGCCTATGGAGATCCCTTTACAAAAGGTGGTCTCACCACGGGAGCCAAGGGAACACTATGGACGGGAACGAAGGGCTCATTCAAGCCCCAATGTGCCAACTAAATTCTTCTATGCAGAGGACTTAGGGAAGTATGGATCTTCAGCGCCATCAAGGACTTATTATCAAGATGACCGATACAGCATTCCTAGCCAACCCTACTCACC[T/G]AAGGTACAATATGTACAGGATCCAAGGACTCACATTGTTCATACTGTACCAACCCGGCCATATTATACAGAAGTCGACCCCTACCATTACTCTGGACAACATGTGTATGCGAAATCCTATGCTGCAAGTGAACCAGGGGCGTATATAATTCAGACACCTCCAGGAAGGACTTTATATGGCGATGACCCAAGGACATATCAGATTCAAACAGCCCCTCCTCGGATCTTCTACATGGCTGACCCCTACACTCCACAAATGGAGCATCATATTCCAGCCAAGGCATATTACACTGAAGGAAGACGACATGCCCGTGTTGTGCAGCCACAATCTGAGGACTGGTACGGCTCAGATGTTTCTGGCTACTCTAGCCATTACCCGTCCTCTTATGTCTCACAGATTACTCCCACAAGAGCTAGGCAAGAGCCAAAGCTCACAACTTGGTATGCCAATCCATGTATGGAGCCAGCAAAAACCGTAACAGACCCAAGATCGTATTCAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33524
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
ENSDART00000111759 Nonsense 444 991 5 7
Genomic Location (Zv9):
Chromosome 5 (position 5495209)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 5032999
GRCz11 5 5525358
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACAGATTACTCCCACAAGAGCTAGGCAAGAGCCAAAGCTCACAACTTG[G/A]TATGCCAATCCATGTATGGAGCCAGCAAAAACCGTAACAGACCCAAGATC
Long Flanking Sequence:
CCATCAAGGACTTATTATCAAGATGACCGATACAGCATTCCTAGCCAACCCTACTCACCTAAGGTACAATATGTACAGGATCCAAGGACTCACATTGTTCATACTGTACCAACCCGGCCATATTATACAGAAGTCGACCCCTACCATTACTCTGGACAACATGTGTATGCGAAATCCTATGCTGCAAGTGAACCAGGGGCGTATATAATTCAGACACCTCCAGGAAGGACTTTATATGGCGATGACCCAAGGACATATCAGATTCAAACAGCCCCTCCTCGGATCTTCTACATGGCTGACCCCTACACTCCACAAATGGAGCATCATATTCCAGCCAAGGCATATTACACTGAAGGAAGACGACATGCCCGTGTTGTGCAGCCACAATCTGAGGACTGGTACGGCTCAGATGTTTCTGGCTACTCTAGCCATTACCCGTCCTCTTATGTCTCACAGATTACTCCCACAAGAGCTAGGCAAGAGCCAAAGCTCACAACTTG[G/A]TATGCCAATCCATGTATGGAGCCAGCAAAAACCGTAACAGACCCAAGATCGTATTCAAGATCTTGGGATAACATCTTAGATACCCACGTAGAACGGGAGCAGCCTGTACCTCGAGGGAAAAGTGATGAGAATCTCCTTTGTCAAGGGGCACAAACTTCAAGCGAAAGACCAAAACCTGTGGTTGTCAACCTTTCCAGCTCACCAAGGCGTTACGCTGCACTGTCATTATCAGAAAACTCTTTGATTGACAAAAGTCCAACCGAGGCCATGAGCTCCTCAAGTAAACTGTGGTTTGTCACACCTGAAATTACAATCACGGACAATGATATCAGACAGGGCAATCTTGGCAAACCAGAAGCACGCTCTGCAAGTTGGGATGTGCTAGATTCAAAAAGTGCCCAAAATCAAGAAGCACCTCAACGTGACGCAAAATCCCGCTCTGGAGAGTCTACCAAAGAGAAAACGCACAGCAGCACATCCCTACAGCAAAGCTTAGAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12476
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
ENSDART00000111759 Nonsense 622 991 6 7
Genomic Location (Zv9):
Chromosome 5 (position 5494632)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 5032422
GRCz11 5 5524781
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCATCGATTACAAACCTCCAGCTAGGAGGACCAGCGAAGATTTGCTTGAT[C/T]AACTCAAAAAGCTGATTGATGAAGAAGAAGCKGWATCTTCAGCAAGAAAA
Long Flanking Sequence:
TAGATACCCACGTAGAACGGGAGCAGCCTGTACCTCGAGGGAAAAGTGATGAGAATCTCCTTTGTCAAGGGGCACAAACTTCAAGCGAAAGACCAAAACCTGTGGTTGTCAACCTTTCCAGCTCACCAAGGCGTTACGCTGCACTGTCATTATCAGAAAACTCTTTGATTGACAAAAGTCCAACCGAGGCCATGAGCTCCTCAAGTAAACTGTGGTTTGTCACACCTGAAATTACAATCACGGACAATGATATCAGACAGGGCAATCTTGGCAAACCAGAAGCACGCTCTGCAAGTTGGGATGTGCTAGATTCAAAAAGTGCCCAAAATCAAGAAGCACCTCAACGTGACGCAAAATCCCGCTCTGGAGAGTCTACCAAAGAGAAAACGCACAGCAGCACATCCCTACAGCAAAGCTTAGAGCAACTCGACGAGCTTTTAGCTGACCTTGTCATCGATTACAAACCTCCAGCTAGGAGGACCAGCGAAGATTTGCTTGAT[C/T]AACTCAAAAAGCTGATTGATGAAGAAGAAGCGGTATCTTCAGCAAGAAAAGATTCGACTCCAGGTTCTGAAAGCGGCATGCCCCTTGACAAACAACCCACGTCAATAAAGATAGATCCTGACACACTAAGAGACACCGATGGGAGTTGTGATGGGCTGAGAAGTACAGAGGAGTGCTCCCCTGACCAGAGTCCAGATGAGGACGACACAATGATGTGTTCAAACAATAAATGCCGTCGGACTGAGACCTTGTTTAATGCCTGCCTCTACTTTAAATCCTGCCACAGCTGCTATACCTACTACTGCTCTCGCAATTGCCGCCGTGAGGACTGGGATATCCACAAAGAGAGTTGCCTGTATGGGAGAATCGGAAGCGTGTGTCGCCACATTATTAAGCACTGTCGAGAAACCACAGAGGTCCACAAAGCTTTCTCCCGTATAGCCAAAGTGGGATACCTGTCTCGGGGCAGGGGGGTCTTGTTTTTGGGATTCCCAAATCCA
Associated Phenotype:
Not determined