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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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f2rl1
- Ensembl ID:
- ENSDARG00000068856
- ZFIN ID:
- ZDB-GENE-061215-140
- Description:
- coagulation factor II (thrombin) receptor-like 1 [Source:RefSeq peptide;Acc:NP_001073273]
- Human Orthologue:
- F2RL1
- Human Description:
- coagulation factor II (thrombin) receptor-like 1 [Source:HGNC Symbol;Acc:3538]
- Mouse Orthologue:
- F2rl1
- Mouse Description:
- coagulation factor II (thrombin) receptor-like 1 Gene [Source:MGI Symbol;Acc:MGI:101910]
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa23853 | Nonsense | Mutation detected in F1 DNA | During 2015 |
| sa3147 | Nonsense | Mutation detected in F1 DNA | During 2015 |
| sa29513 | Nonsense | Mutation detected in F1 DNA | During 2015 |
Mutation Details
- Allele Name:
- sa23853
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2015.
- Mutation:
- C > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099733 | Nonsense | 330 | 380 | 2 | 2 |
| ENSDART00000136671 | None | 270 | None | 3 |
- Genomic Location:
- Chromosome 21 (position 7208676)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CTTGGCCAGTCTGAACAGCTGTGTTGATCCATTCGTGTATTATTTTATCT[C/A]GGATGAATTCAGGGAGCATGTTAGAAACACTTTTCTTTGCCGAAGTGAGC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa3147
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2015.
- Mutation:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099733 | Nonsense | 353 | 380 | 2 | 2 |
| ENSDART00000136671 | None | 270 | None | 3 |
- Genomic Location:
- Chromosome 21 (position 7208608)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- ATGTTAGAAACACTTTTCTTTGCCGAAGTGAGCGCACTGCCCAGAGAATG[C/T]GAGTTTCTTTTAGTGCKCTGAAGTATTCGAAGAAAAGCAGCACGTACACA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa29513
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2015.
- Mutation:
- T > G
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099733 | Nonsense | 361 | 380 | 2 | 2 |
| ENSDART00000136671 | None | 270 | None | 3 |
- Genomic Location:
- Chromosome 21 (position 7208582)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGTGAGCGCACTGCCCAGAGAATGCGAGTTTCTTTTAGTGCGCTGAAGTA[T/G]TCGAAGAAAAGCAGCACGTACACATCAGACTCTGGAAACACACAGAGCAG
- Associated Phenotype:
- Not determined
Register
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- Connect with us:
Wellcome Trust Sanger Institute, Genome Research Limited (reg no. 2742969) is a charity registered in England with number 1021457
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