Busch Lab

ZMP

bfb

Ensembl ID:
ENSDARG00000005616
ZFIN ID:
ZDB-GENE-990415-34
Description:
complement component bfb [Source:RefSeq peptide;Acc:NP_571316]
Human Orthologues:
CFB, XXbac-BPG116M5.17
Human Descriptions:
cDNA FLJ55673, highly similar to Complement factor B [Source:UniProtKB/TrEMBL;Acc:B4E1Z4]
complement factor B [Source:HGNC Symbol;Acc:1037]
Mouse Orthologue:
Cfb
Mouse Description:
complement factor B Gene [Source:MGI Symbol;Acc:MGI:105975]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa7248 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa11825 Essential Splice Site Available for shipment Available now
sa18010 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa7248
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003508 Essential Splice Site 20 456 1 11
ENSDART00000121732 Essential Splice Site 20 457 1 11

The following transcripts of ENSDARG00000005616 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 26838268)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27407179
GRCz11 21 27443874
KASP Assay ID:
554-4914.1 (used for ordering genotyping assays)
KASP Sequence:
GCAGCGGTTAAAGTGGTTAATACTTGCACTGATATGTCCTCTCAYTRCAG[G/T]TAGGTCTTATTTACCTAATCAAGATAAATGCATTCTGAAATATAGACCTC
Long Flanking Sequence:
CAACTGGTCCCAGACCCCCTAAACAGAACTATATGATCCATCGAAATCTCTTTTTTCGGAACATTCTTTCACACTTCATGGAATGCACTGTATATGAACAAATAAATATAATATCAAGAATTTTTTATTTAATCATGATTTGACATAAACATTTTCTTGTTTCTTTCACACCGATTTTTATCTTTAAAATTATATTTCCCATAAACATTTGAATTAAATCTTGGCAAACAGCAACTTCACTTGTGCCAAACAAAATCTAAATAAATAACACACTGCAATAATGACACAAACACAAATTTCTCTAAATTCTCTTTATTTGGCTTGAGGTTAAACATTGACTACTGAATGTAATAAAATCCTCTTTCTGGCGCCACTATAAAAATGACCCCCAGACTGTTTGCTTCTGTGTTTTTGTGCCTCATCTGAAGTCTTGACCAGCATGGAGTGTGGGCAGCGGTTAAAGTGGTTAATACTTGCACTGATATGTCCTCTCATTGCAG[G/T]TAGGTCTTATTTACCTAATCAAGATAAATGCATTCTGAAATATAGACCTCCTCCAATTTTAATAATCTGTTCATAGGTGCTCCATCCAGAGATAGTTCATGTCCCGAAGAAAATCTGAACATTACAGGAGGGAGTTTTACTCTTTCTAATGGCTATTCAGATGGGAGTTATCTGACATACATTTGTCCGGATGGATATTACCCATCTATTCCAACACGTCGTTGTCAGTTTGGACTTTGGACCCCAAATACCAGCACCAGAAAAAAAGCTGAGTGCAAAAGTAAGAAATAGAGCTTCACTTTGTATCATTATATCATGAATAAATGCTAGATCTGTTTAATGCTTTTATTATACTTTTCTACTATGTTTGTTCATGCTTTTATTTTAGAAATCACATGTCCTACTCCTCGTGTTTTGGAGAACGGAGAGGTGGCTCCATATCAAGAGAGGTACTATATAAATGAGGTAACCACTTATTCGTGTAATCCTGATTATAAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11825
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
ENSDART00000003508 Essential Splice Site 209 456 None 11
ENSDART00000121732 Essential Splice Site 209 457 None 11

The following transcripts of ENSDARG00000005616 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 26837097)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27406008
GRCz11 21 27442703
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGTGTCAGGATGGTRGCCAGTGGTCAGGAACAGAGCCACAGTGCTACGG[T/G]GAGTAACTGCTACAYWGAAGTTACAAAATCATATATAGACTTCTGNNNNNNGAAAA
Long Flanking Sequence:
AATACCTCTAAACATAGATTTCTTGACTAAATAAGGCGAAATTTGAGCTGTCAGACAATAAAGTTTTAAAGCAATAATCAGATAATGCTATCAAATAAATGACTACACGTAGATTTTTACAGTTATACCAAATTTAGTCTTGTTTTAACCAAGACACCTATGTTTAAACATCTATAGATGTCTTATAGACACCTTTTAATCACAAAATTCCTAGGTGGGACATTATGTGCAACATTATTTAGTTATTTAATAAGTTGCATCTGTTGATTCAAATGTCGATCCACAAATCTTTACTTCCACTTGTGTATTTGTTTCTGTCTCACAGCTGATCACTGTCCTGATCCTGGCGTTCCCCCTGGTAGCAGTCGAACAGGCAGCACATTTAACATTGATGATGAAGTCACGTACCACTGTGATAGTCCATTGACCCTGATTGGTTCCAAAGTGCGTAAGTGTCAGGATGGTGGCCAGTGGTCAGGAACAGAGCCACAGTGCTACGG[T/G]GAGTAACTGCTACACTGAAGTTACAAAATCATATATAGACTTCTGGAAAAAAAGGACATTGAGCTTATAACACTTTTAATGTTGTGGTGTGATTACTGTACAGCTGATTTCACATACGACACTGCAGCAGAAGTAGCTAAAGCTTTCGGCAATTCTCTGAAGACAATGCTCACAGTTCAACAAGAGTCTGAAGACGGTATATTTAATCACAGATGCATTGTCACTAATAACTTTAATGCTAATAATGCTATTTTAGCATAGTCAAACACAAATGCTGTGCTCCTTCTTTCTTCAGATCACCATGGGAAGAAAATTTATTTGAATAAGGGTGGAAAACTTGATATCTACATTGCTGTGGATGTGTCTGACAGCATAAATGATTTGAAAAAAGCAAAACAAATTATTAAAACGCTCCTAGAAAAGGTAAGTTATCAAATAATTTGAGTGAACACGACTCAAGTAGTTCTTCTGTCACTTTTTCAGCACACAGCACACTTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18010
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003508 Essential Splice Site 240 456 None 11
ENSDART00000121732 None 240 457 6 11

The following transcripts of ENSDARG00000005616 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 26836803)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27405714
GRCz11 21 27442409
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGMTATTTTAGCATAGTCAAACACAAAYGCTGTGCTSCTTCTTTCTTC[A/G]GATCACCATGGGAAGAAAATYTWTTTGAATAAGGGTGGAAAACTTGATAT
Long Flanking Sequence:
TTCCACTTGTGTATTTGTTTCTGTCTCACAGCTGATCACTGTCCTGATCCTGGCGTTCCCCCTGGTAGCAGTCGAACAGGCAGCACATTTAACATTGATGATGAAGTCACGTACCACTGTGATAGTCCATTGACCCTGATTGGTTCCAAAGTGCGTAAGTGTCAGGATGGTGGCCAGTGGTCAGGAACAGAGCCACAGTGCTACGGTGAGTAACTGCTACACTGAAGTTACAAAATCATATATAGACTTCTGGAAAAAAAGGACATTGAGCTTATAACACTTTTAATGTTGTGGTGTGATTACTGTACAGCTGATTTCACATACGACACTGCAGCAGAAGTAGCTAAAGCTTTCGGCAATTCTCTGAAGACAATGCTCACAGTTCAACAAGAGTCTGAAGACGGTATATTTAATCACAGATGCATTGTCACTAATAACTTTAATGCTAATAATGCTATTTTAGCATAGTCAAACACAAATGCTGTGCTCCTTCTTTCTTC[A/G]GATCACCATGGGAAGAAAATTTATTTGAATAAGGGTGGAAAACTTGATATCTACATTGCTGTGGATGTGTCTGACAGCATAAATGATTTGAAAAAAGCAAAACAAATTATTAAAACGCTCCTAGAAAAGGTAAGTTATCAAATAATTTGAGTGAACACGACTCAAGTAGTTCTTCTGTCACTTTTTCAGCACACAGCACACTTATTTAGTTACAGTTTGAAGATAACAATTAATTTATAATTGAATAGCTTGGTTTAACATAAAAAGTTCATACTTAGTGATTTACATGTGCTTAACTGTTTATACAATATATTGTCCACAACATATTCAAAAAGCATTTAGCATTAGTGTCCCACAATCCACAGCATACTTGTATTAAATTCTATAACAGCCACTGTTTACAGTCCAGTCAACTTCCAGGAAATAAAATCATGTCCTAATGTAAATTTAGCCAGTTTTCAGTGAAAAGCCTGTTCCTGATTATAAAGTGAAATAAATTG
Associated Phenotype:
Not determined