Busch Lab

ZMP

rfc1

Ensembl ID:
ENSDARG00000054799
ZFIN ID:
ZDB-GENE-070410-99
Description:
replication factor C subunit 1 [Source:RefSeq peptide;Acc:NP_001082960]
Human Orthologue:
RFC1
Human Description:
replication factor C (activator 1) 1, 145kDa [Source:HGNC Symbol;Acc:9969]
Mouse Orthologue:
Rfc1
Mouse Description:
replication factor C (activator 1) 1 Gene [Source:MGI Symbol;Acc:MGI:97891]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa38263 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa19495 Essential Splice Site, Missense Available for shipment Available now
sa11513 Nonsense Available for shipment Available now

Mutation Details

This allele has been removed from public view.

Allele Name:
sa3352
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Nonsense 640 1128 15 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Nonsense 658 1147 13 24
ENSDART00000146575 None None 126 None 5
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Nonsense 640 1128 15 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Nonsense 658 1147 13 24
ENSDART00000146575 None None 126 None 5

The following transcripts of ENSDARG00000054799 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 22029070)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 22564237
GRCz11 1 23254976
KASP Assay ID:
2259-0546.1 (used for ordering genotyping assays)
KASP Sequence:
TTATCTGGACCCCCTGGTGTTGGGAAGACCACTACTGCTGCTCTCGTTTG[T/A]GAGGTCAGTTCATTCTCACATATAAACAACTTTTACATCTTGTTTGACTA
Long Flanking Sequence:
TTTTGTCGATGGCATCCCTAGAATTAAATACGGCATGAATGCCCCTCTATATTTTCTTGATAATGTCACAGACGCACAATCATCATGTTAGACTGGGGGTTTTTATGTGTATATTTTTATAAATGTAAATCTAACATGCTTTTGACTTGAATGCAATCATACACACCACATTTGTTCTCAAAGGTGCCTCCTTTTTTTAATGCTTTTTATTTTTTTTAAATAAACCTTATAAAAATTCATAAACTTCATGGTAAAATTGATGAAATGCTGTTTATAACTTGGGCATAATGTTTTATATATCATTTTTAAAAAGTAGTGTATAGTATATGTAGTGTATCATTTTCTTTGTTTCTTATTCTGTGTTTGCGTGTGTGTTTGTCTGTGTGTGTAGCACCCAAATTTGGTAAATTTGGGAGTAAAGATGACGGTTCTGGATTTAAGGCTGCATTGTTATCTGGACCCCCTGGTGTTGGGAAGACCACTACTGCTGCTCTCGTTTG[T/A]GAGGTCAGTTCATTCTCACATATAAACAACTTTTACATCTTGTTTGACTATTTCAAAACAAGTGTGTGTGTGTGTGTGTACGCTTTAAAAATGTTTATGAATTAAATCATTAGCTGCACTGGCACAGTGTGTCTGTTTCTGCAGTTTTGTTGCTTTTGTTAATGCGTTAACAGTTTCCACATGTGCTTGCAGGAGTTGGGTTACAGCTATGTGGAGATGAATGCGAGCTGCACCCGCAGTAAGAACAGCTTAAAGGAGGTCATCGCAGAATCACTTAACAACACCAGCATTAAGAACTTCTACACCGGTAATTACCTTAATTAATACACAATAAATCAGATTACATCTGCAAAATGGTTTTCAGTTGAACTGTGGTGATTATAATATAAACACTTTGGTTCTGTGTTTAATGGTGTCAGGTGCATCACAGACAGTGAGCAGTAAACACGTTCTTATAATGGACGAGGTGGACGGCATGGCAGGAAATGAAGACAGAGGAG
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
Stage Entity Quality Tag
Larval:Protruding-mouth
ZFS:0000035
cranium
ZFA:0000737
malformed
PATO:0000646
abnormal
PATO:0000460
Larval:Protruding-mouth
ZFS:0000035
eye
ZFA:0000107
degenerate
PATO:0000639
abnormal
PATO:0000460
Larval:Protruding-mouth
ZFS:0000035
inner ear
ZFA:0000217
decreased size
PATO:0000587
abnormal
PATO:0000460
Larval:Protruding-mouth
ZFS:0000035
ventral mandibular arch
ZFA:0001273
absent
PATO:0000462
abnormal
PATO:0000460

Mutation Details

This allele has been removed from public view.

Allele Name:
sa18695
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Nonsense 640 1128 15 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Nonsense 658 1147 13 24
ENSDART00000146575 None None 126 None 5
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Nonsense 640 1128 15 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Nonsense 658 1147 13 24
ENSDART00000146575 None None 126 None 5

The following transcripts of ENSDARG00000054799 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 22029070)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 22564237
GRCz11 1 23254976
KASP Assay ID:
2259-0546.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTATCTGGACCCCCTGGTGTTGGGAAGACCACTACTGCTGCTCTCGTTTG[T/A]GAGGTCAGTTCATTCTCACATATAAACAACTTTTACATCTTGTTTGACTA
Long Flanking Sequence:
TTTTGTCGATGGCATCCCTAGAATTAAATACGGCATGAATGCCCCTCTATATTTTCTTGATAATGTCACAGACGCACAATCATCATGTTAGACTGGGGGTTTTTATGTGTATATTTTTATAAATGTAAATCTAACATGCTTTTGACTTGAATGCAATCATACACACCACATTTGTTCTCAAAGGTGCCTCCTTTTTTTAATGCTTTTTATTTTTTTTAAATAAACCTTATAAAAATTCATAAACTTCATGGTAAAATTGATGAAATGCTGTTTATAACTTGGGCATAATGTTTTATATATCATTTTTAAAAAGTAGTGTATAGTATATGTAGTGTATCATTTTCTTTGTTTCTTATTCTGTGTTTGCGTGTGTGTTTGTCTGTGTGTGTAGCACCCAAATTTGGTAAATTTGGGAGTAAAGATGACGGTTCTGGATTTAAGGCTGCATTGTTATCTGGACCCCCTGGTGTTGGGAAGACCACTACTGCTGCTCTCGTTTG[T/A]GAGGTCAGTTCATTCTCACATATAAACAACTTTTACATCTTGTTTGACTATTTCAAAACAAGTGTGTGTGTGTGTGTGTACGCTTTAAAAATGTTTATGAATTAAATCATTAGCTGCACTGGCACAGTGTGTCTGTTTCTGCAGTTTTGTTGCTTTTGTTAATGCGTTAACAGTTTCCACATGTGCTTGCAGGAGTTGGGTTACAGCTATGTGGAGATGAATGCGAGCTGCACCCGCAGTAAGAACAGCTTAAAGGAGGTCATCGCAGAATCACTTAACAACACCAGCATTAAGAACTTCTACACCGGTAATTACCTTAATTAATACACAATAAATCAGATTACATCTGCAAAATGGTTTTCAGTTGAACTGTGGTGATTATAATATAAACACTTTGGTTCTGTGTTTAATGGTGTCAGGTGCATCACAGACAGTGAGCAGTAAACACGTTCTTATAATGGACGAGGTGGACGGCATGGCAGGAAATGAAGACAGAGGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38263
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
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Essential Splice Site 755 1128 18 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Essential Splice Site 773 1147 16 24
ENSDART00000146575 None None 126 None 5

The following transcripts of ENSDARG00000054799 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 22027919)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 22563086
GRCz11 1 23253825
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTATTGCTATGACCTGCGCTTTCAGAGACCCCGCGTTGAGCAGATCAAG[G/A]TGACCGTCAGACAAATTCAGATATTTCGAGAGCATGATTAAATTCATGTG
Long Flanking Sequence:
CAACTTAAAACTGTGAAGTTTTGTGATAAGGGCCATTTGTATTCAAAAATGTAGTTCATTTGCGTTTAGAAGAGTCTAATTCCTTCAAATTAATTAAATATATTTCCCAGAGATGGGTTGCGGCTGGAAGGGCATTCGCTGCGTAAAAACTTGCTGGATAAGTTGGCTGTTTATTCCGCTGTGGTGACCCCGGATTATTAAAGGGGTTAAGCCGAAAAAGAAAATAAATGAAAGAATAATTAAATATATATTTTGAAATAGACTGCAGTAATTAAAGTTTTTTTTTTTTCACAGAACCTATTGAAATGCAGATCTGTGTCATTGTGGTTCTTGACTTTTTTCATTGTCTTTCGCCCACACAGGAGATGATTGGTCTGATAAAACAGTCAAAGATTCCCATCATCTGTATGTGTAATGACCGCAATCATCAGAAGATCCGCTCGCTGGCCAACTATTGCTATGACCTGCGCTTTCAGAGACCCCGCGTTGAGCAGATCAAG[G/A]TGACCGTCAGACAAATTCAGATATTTCGAGAGCATGATTAAATTCATGTGATTGCATGACCACTTTTGCTTATGTAAATGACCTCTAAGTGGTAGAAAAGATAACATTATGTATATATTTAAAAAAAGAATTTAAAATATACATAAAAAATGTTTACTATAAAAAACAGTGTTTTCATTGGTAAGTACTAGGGCTGTGCAATTTGGGGAAAATATCTAATTGCAATTTTTATTTATTGATTTTTTTGTATTTTATTTATTTTTTGACAGATTTTGCAATTTCGATGTTATTTGCGATTTTAAATTTTTTAGTCAAGCTTCAGCTCAATAAACTGTATTGTAGCTCCTTGCTACAAAAAATGCAGTGAGTGGAACTAAAAAGATATCAACTTATATTAGCAAACAACTCTGAAATTGTACATTGCTTGTTACTAGATTGAGCGTCACTGGCGATACTTTGTTGACTTTTTAGCAAGATACTCCTCATATAGCTGCCTGTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19495
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 > G
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Essential Splice Site 1027 1128 24 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Missense 1046 1147 22 24
ENSDART00000146575 None None 126 None 5

The following transcripts of ENSDARG00000054799 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 22022882)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 22558049
GRCz11 1 23248788
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGATGGAGATCAGCACATGGGATGGACAGCCGGATCCGTACTCTAAAC[T/G]AGACTCCAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Long Flanking Sequence:
TCTGTATTTATCAGTGAAAACAAATCAGGCTTTTTCATGTATCTGTGGGCATTTATTCCCAGGCGATCTATGCAAGCGTGTTGCCAGGGGAACTGATGCGTGGTTACATGAGTCAGTTCCCAAACTTTCCAAGCTGGTTGGGCAAATTTTCCTCATCGGGCAAACACAGCCGCATCATACAGGAGCTGGCCTCACACATGAGCCTCAAGTGAGCTAACCCAAGAACTTCCTGTCTCACTCTACTCAAACTATGATGTCTCGATAAACCCTAAAATCTTCCTTATTTCACCCCTGCAGGACCTTAAGTAGTAAGGAAGCAGTAAATCTGGATTACCTGCCCTATTTGCGCTCAGCAGTATTAAAACCTCTTCAGTCCCTAGGCTCAGAGGGAGCCAATCAGAGCGTGAAGCTCATGGATGATTATGACATCATTAAAGAGGATGTTGATAACATGATGGAGATCAGCACATGGGATGGACAGCCGGATCCGTACTCTAAAC[T/G]AGACTCCAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGATTTGCTGAGCATATTGTAGAGAAATCCTCCAGGACAAAAAAGCAGTGGTCCAGTTGACAGTTCATTGCTTTGACAGATGCCTGCTCCGTCTGAGTTAATTGTGTTTTAACTGTAAAACATCTGGAGGTGCTCTGCGCCACACTTTATCCCCATCAGCTCCATTTTTTTTTTCTTTTCCCCTTTTCGCAGGTGAAAGCTGCGTTTACAAGAGCCTACAACAAAGAATCTCATCTCACGCCATACTCCTTACAAGTGGTGAAGAAAAGTCGTAAAGGTGCAGTTGACCCTGAGCTTCTAGGAGAGCTTGACAATGAATCTCAGGTGCAGGAAGAGGAAGAAGATGATGGGCTTGGTGCAGATGCAATGATAAAGGTAGATCTCCAAATGGCAATCCAGCAGCTCTTGAGTTTTTCAGGCACATATCAACTGGAGGACAGTCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11513
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077055 None None 529 None 13
ENSDART00000114600 Nonsense 1040 1128 25 26
ENSDART00000121783 None None 529 None 13
ENSDART00000143948 Nonsense 1058 1147 23 24
ENSDART00000146575 None None 126 None 5

The following transcripts of ENSDARG00000054799 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 22022606)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 22557773
GRCz11 1 23248512
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTNNNCTTTTCCCCTTTTCGCAGGTGAAAGCTGCGTTTACAAGAGCCTA[C/A]AACAAAGAATCTCATCTCACGCCATACTCCTTACAAGTRGTGAAGAAAAG
Long Flanking Sequence:
TTCCTTATTTCACCCCTGCAGGACCTTAAGTAGTAAGGAAGCAGTAAATCTGGATTACCTGCCCTATTTGCGCTCAGCAGTATTAAAACCTCTTCAGTCCCTAGGCTCAGAGGGAGCCAATCAGAGCGTGAAGCTCATGGATGATTATGACATCATTAAAGAGGATGTTGATAACATGATGGAGATCAGCACATGGGATGGACAGCCGGATCCGTACTCTAAACTAGACTCCAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGATTTGCTGAGCATATTGTAGAGAAATCCTCCAGGACAAAAAAGCAGTGGTCCAGTTGACAGTTCATTGCTTTGACAGATGCCTGCTCCGTCTGAGTTAATTGTGTTTTAACTGTAAAACATCTGGAGGTGCTCTGCGCCACACTTTATCCCCATCAGCTCCATTTTTTTTTTCTTTTCCCCTTTTCGCAGGTGAAAGCTGCGTTTACAAGAGCCTA[C/A]AACAAAGAATCTCATCTCACGCCATACTCCTTACAAGTGGTGAAGAAAAGTCGTAAAGGTGCAGTTGACCCTGAGCTTCTAGGAGAGCTTGACAATGAATCTCAGGTGCAGGAAGAGGAAGAAGATGATGGGCTTGGTGCAGATGCAATGATAAAGGTAGATCTCCAAATGGCAATCCAGCAGCTCTTGAGTTTTTCAGGCACATATCAACTGGAGGACAGTCGTTTAGACAAAAAATGTAAATGTAATGTCAAACACATTGGACTATTGTCCATTTCAAAAAACATTCTTTTGACCAAACAGATATCCATTTGTTGACAATCAGTATTTCCAGGGTGTCCGCGGGGTCTTAAAAAGTCTTAAATCTACTGAAATGTTGTGTTCTAGGTCTTAAATCTTTTTAAACAATTTCTTTTGGTCATGTATAGCCACCCAATCTGGCTATTAACACCCATACAGTCACCAACAATCCCAATCTCTATAAAACTTTTCAACGTTTT
Associated Phenotype:
Not determined