Busch Lab

ZMP

si:ch211-22d5.4

Ensembl ID:
ENSDARG00000057113
ZFIN ID:
ZDB-GENE-100513-4
Description:
complement component 6 [Source:RefSeq peptide;Acc:NP_956932]
Human Orthologue:
C6
Human Description:
complement component 6 [Source:HGNC Symbol;Acc:1339]
Mouse Orthologue:
C6
Mouse Description:
complement component 6 Gene [Source:MGI Symbol;Acc:MGI:88233]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa29570 Nonsense Mutation detected in F1 DNA Not yet available
sa29569 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa37284 Nonsense Mutation detected in F1 DNA Not yet available
sa11761 Nonsense Available for shipment Available now
sa23913 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa29570
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
ENSDART00000079709 Nonsense 15 885 2 18
ENSDART00000138155 Nonsense 35 907 2 18

The following transcripts of ENSDARG00000057113 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 19757405)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 20892894
GRCz11 21 20929530
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCCCACTATGGGGTGTTTCTGTGATCATTACCCATGGAGTACCTGGTCC[C/T]AATGCACTAAAACCTGTGATTCTGGTACTCAATCACGTTTAAGGTAACAA
Long Flanking Sequence:
TCAAAGCATGCTAATTATGCTAACAATCTGTAAAACATGCTACATAAGCATGCTAGTAACATGCTAAATCAGATCTACCTTTTTTTTTTTTTTTTACATTTTATACACACTTAAACATCCCATTACTCAACCCTGATATCTGCTGACTTAAAGATGACAATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTATAAATTATTTATATATATATATATATAAAAAAAAACAATTAGCTTTCGTTAGCTAAAAGATTCATTCTAATGATTTGTGTTTGACTACAGACGCCAGTTGTTTATGTATGTCATTGGAAGTTTAACAAACTCTGTGTTCCCCTATAAGCTATCAATTTCCAACAGGCCTTCTTCTCTATGGATTGTACTTGCATTCTCCTTGCCCTACTCTCCACCCTGGCTTCTTTAAGTCCCACTATGGGGTGTTTCTGTGATCATTACCCATGGAGTACCTGGTCC[C/T]AATGCACTAAAACCTGTGATTCTGGTACTCAATCACGTTTAAGGTAACAATTATTGAGCATTTATCTGATGTGTAAAGCTTAATGTTGTGATGTAAGTACATGTATTGTTGCAGGGATGTCCAGTATGATGATCACTGGTTTAAAAACAGCTGTTCCCAGCTGTGTCAGATACATGATAATAGAGTGTGTAATGTTGAGGCCTGCCCTATAAACTGCCAGCTGACTGAGTTTGGACCCTGGTCCGAGTGTTCATCTTGTGCCAAAAAATCAGTGAGTAAAACACACACACAGTTTAAAATGAGTTGCTCTGGGTGCTCACATAGTTTTCAGTGTTTGAGTTTTTGCATTCTATTGACTTTTTTCTTTCACATTCAAGAGGGTGCAGTCAATGGAACCTTACTGGCTCAAGACTCACATTGCAGATCTCATTCACATTCATTGATTTTTAGCTGTAAAAAAAAAACAGCACAAAATTCAGCTTGATGTTACAAACTCGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29569
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079709 Essential Splice Site 130 885 4 18
ENSDART00000138155 Essential Splice Site 150 907 4 18

The following transcripts of ENSDARG00000057113 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 19755284)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 20890773
GRCz11 21 20927409
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCGGGATTGAGCCTTTGAACTGTAAAGACAAGTTCACCTGTGACACTGG[T/C]ACATCAGCAACTTCTGCTACATAATCTACTGATCTAGCAAGTTTGTACAG
Long Flanking Sequence:
GCACTCTGTGATCATCAATCATTATCAAATGTGATCAAGAATGAGTTTTACAAGCTTAAAAGGTTTTTAAAACAGTGCATGGTTGTAATGAATTACAGCGATTTACCATCTTTGCTTCATCACTACAGTCACATGTCAGTACAATTATAAAAGAAGACGCTTCTATCCCGGTTTGCGGACGTTAAATCAGGTTAATTTTCTACAACATAACAGATGTCTATTCAGCAGTGTGTATTAAAGTCTATCCTGTCACATTTCCGTGCAAAGTTAAATGTTAAACCTTCAGGAACTGAGTTTGCCACCCCTGCTCTTAACCATGTTGTTTTTCAAAATATTGTGCTGTTTGTGATTTAGTTCAGAATCAGGTCTGTGTTGAGGCCATCTCAGTTCGGAGGGGCCGACTGCAGTCAATCTCTTATGGAGGAAAGAGCCTGTCATCCTTCCAAGGAATGCGGGATTGAGCCTTTGAACTGTAAAGACAAGTTCACCTGTGACACTGG[T/C]ACATCAGCAACTTCTGCTACATAATCTACTGATCTAGCAAGTTTGTACAGTCCTTCAATGCAGTGTTCTAGAAAACTTGGGACAACCAACTTGTTTTTTTTTGCCACCAAAGGAAGATGTATACATGCTGATCTGCAATGCAACGATCAGAACGACTGTGGTGACAACTCTGATGAGAGAGACTGTGGGCGCATTAAAAGTGTGTGTTCAAATCAGCGGATGTATGCTTTCGTCCCTGGAGCAGACCAGATTGGTTTTGGGTGAGTTACAGATTAAGATCATTTACTTTCTGAGACTGCAAAAAAGCTAAATGGAAAACATTTAGGGTGTTGTCAGCAAAACATCTCTGGATAATCGGAGAATGTGCTTGATTTAAAACTGATAATGATTTAAATTTTAATGATTAAATCAGATTTGATGCTGCAGCGGAGCAGATGAGAGGTGCTGTTCTGGACAACTCGTTCATGGGAAGTAATTGTACTGTAGAAAAACAAAAGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37284
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079709 Nonsense 399 885 10 18
ENSDART00000138155 Nonsense 419 907 10 18

The following transcripts of ENSDARG00000057113 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 19750637)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 20886126
GRCz11 21 20922762
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTAAAAGCATCAGAGAGGTGTATCACATCTGTACAAGGAGGACGAACT[G/T]AATTTGCAGCAGCACTGGCCTGGGAGAAGAAAGGCGTTTCGCCACAGAGC
Long Flanking Sequence:
ACTACGCCCTTTACAGGCATATATTCCAGCTGTTTGGAACACATTATTTCAGCTCTGGGACATTAGGAGGGAAGTATGACCTCCTTTTCCAATTCGATCGAGAAGAACTGAAAACCTTTGGTAAGTAGATATTATTATTATCGGATAGGAAGCGGTTGTGGCACATCATTAGTGTTCACTTGACTTTATTGTTTCCCTCTCATTTCTTGCTATTAAAATCAGCCAAACATCTTTACACTTTTTAGGGCTTAAAGAAAGCGACTCAGAGTACTGCTTGTCTGATGATGACACACTCGTCACATTTTTTTATAATAGACATAAACAAAGAAACACTTGTGGGAATATTTCTATGAAAACCAAATATGAAGGTAACAGACATACAAATGTACTATTTACGCAAACAAGGCTTGTGTTTTTAGTTATATAAATGTGTGTCCACTCCAGGGTCAATGGTAAAAGCATCAGAGAGGTGTATCACATCTGTACAAGGAGGACGAACT[G/T]AATTTGCAGCAGCACTGGCCTGGGAGAAGAAAGGCGTTTCGCCACAGAGCACTGTATACACAGACTGGATCAAGTCTACTATAGAAAATCCAGTGGTTATTAATTATGAGGTTAGAAAGAGCAACAGACTTAAATGCCCTTTCTGTAAAAACAAAACAAAAGAGGCCATCATGGAATCTGTGATATTTTAATGGTTATAATAGAAATAATACTGGCTTTAATGGCAACTATTTGGCCTTCTATTGGTGCTGTGTTCAAATCAATACATCCTAATGTAATGTGTCCCACAACACACTTGAAATCATCAACATGTGCTACTTTTAATGGCTAAAATCTTTTTTACTACTTACTACTAATTTTAGTAGTGGGAGTCTTCTTCTGTGATGGTTTCTGTTGTTTGAAAATGGCTGTGGATTAACCTGCTAATCATTCTGGCAGCCTTTTATCTAAAAAGAGAGAAAAGAAGAGCAAATCACCATCAATAAATGGCTCTCAGATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11761
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079709 Nonsense 636 885 14 18
ENSDART00000138155 Nonsense 657 907 14 18

The following transcripts of ENSDARG00000057113 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 19747522)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 20883011
GRCz11 21 20919647
KASP Assay ID:
2261-5510.1 (used for ordering genotyping assays)
KASP Sequence:
ATTATTTGCTTCACTGGATTTGAGTTGCAGGGATTCCAGCTCATTCATTG[T/A]TTGCAGGATGGTACCTGGGAGAAACCAAAGGCACAGTGTATTAGTAAGCC
Long Flanking Sequence:
TCACAAAAAAAATTCACAAAAAAAGAAAAACAATGAAAGAATTAATAAACTTAGTGAACACTTATATCTTCTCAAACATCAGACTTCAAGCTACATAAATATAACACATTTTCTTAAAAATTGTTTTACAAAAAAAAAGTACCCATCTATGAAAATCTACAGAATTATTTGCTAACGAGACCCACTTTTCCTATTTGTCCATCTTTCACAGGCAAAACGTCTGCATTAATGATGATGCCTTTGTGACTGAAGATTCCAGTGAGAGTCGGCTGCCTCCTGGAACTTCTGGCTGTGCAAAACCTCTTCCACCAGCCAACAGTCACTTAAGAGTGCGCAAAAATCACATCACAATGTTTTGCCAAACTCTTTTACATTGTTTTTTAATATCTTTTATATTTCTTATATGTGCAGATCAACAAGCGCCAGTATGACTATGGAGATCACGAGGAGATTATTTGCTTCACTGGATTTGAGTTGCAGGGATTCCAGCTCATTCATTG[T/A]TTGCAGGATGGTACCTGGGAGAAACCAAAGGCACAGTGTATTAGTAAGCCAAACAAATGCCTGTTTAATATCTGAATAACACAACTTATGATCTGAAAGCTCATTTTGTCCTTTAACACACTTTGTAATCAATGTAATTCATGTTGTTCCAGAAAAGGTTTGCTCCAAACCCTCTGTGCCTGATGGCATGACGATTAATCCAGACAGAATGGAGTATAAAGTAGGAAGTGACATCATGCTGGTTTGTTTAGAGAGCGGCACGAGTCCTTCAGGACGCCTGTCTTACTCTTGTGGAAAAAGTCTTATCTGGGAACCGAGCATTCCAAAGGACATATACTGCAAAATCGGTACTCATTCATTTTCCTTCGGCTTCTTCTCTATTTTAGAGGTCACCACAGCGGAATGAACCATCAATTATTCCGGCATATGTTTTATGCAGTAGATGCCCTTCCAGCCACAACCCAGTACTGGAAAACACCCATACACAATCATTCACACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23913
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
ENSDART00000079709 Nonsense 838 885 18 18
ENSDART00000138155 Nonsense 860 907 18 18

The following transcripts of ENSDARG00000057113 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 19743653)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 20879142
GRCz11 21 20915778
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTTCTTCTTAGTGTCCAAAACGTGTGAGTGTAAGATGCCCAGAGAATG[T/A]CCAAAAGACGGGAAGAAAATATACTGCCTGAAAATCGTGAGGACGCAAAC
Long Flanking Sequence:
TCATCATATTTTTTCATATAAAATCATATACAGTTGAGGTCAGAATTATTAGCCCCCATTAAGATAGCTGCCTTAATGCAGTGCTATTTGCAGTCTTGACCATTAAACACTATGTATTTGTGTATCCTGCAGAGGTTACAGAGAAGACTTGTGCGTTTATGACGCTGGCAAGGAAACTGCCATTATGATGTCCCTCTGTGCTTTTCATGCTGACCGTTGTCATGGAGACAGATTATACTTTATGAATAATGGACCGTGCAAAAGTGACGCACGCAGTCTGGACTGGGCCAAATTCAGGGTCAGTGTATCTGAGCAGAGCTCGGTGCAGGAGCCCTGCGGTTCAGACACCTGTTACGAGTGGGAGACCTGCTCAGGTACAGACCGAATCACAAATCCTTACATAATGCATTCTTTCATTATATTCAACTAAAATAATTCAAGTCTTATTGTCTTTTCTTCTTAGTGTCCAAAACGTGTGAGTGTAAGATGCCCAGAGAATG[T/A]CCAAAAGACGGGAAGAAAATATACTGCCTGAAAATCGTGAGGACGCAAACCACAAGAAGCATGAATCTGTGTTTTATGGCTGCAATGAAGTGCAGCAGTATAGAGTTTGAGCTTCAGCATGAAGGCCCTTGCGCAGGTTCTTAATTGTGCACCACTTAAGCTGTAAAAATGTTCACAGATTTGCAGCCATTATTGATTCATATTGATAACACATTGTCATTTTAAAATCACTCACAGCATGCTATAGTTATTTGTTTGTGCATATGGGCATTCTTGATATTGATCTGGAACAACACAATAAAATATAATCGGACATTCAGATGCCTTCTAGTATTTAAATACTCTTTCATCTGCTAAAGTTGAATGTTAAAATAATTACTTTCTGGCATGTCAGAAATAACTGTAAATAAGCTATTCATGTGAATTATACTGAAATGCTTTGCTGTTTTTTATTGCCCACAATCCAGGAACACCTTAAGTAACAAATTTGCACTTATTTA
Associated Phenotype:
Not determined