e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
You can look for mutant lines by browsing a complete list or by searching for a particular gene
nipbla
- Ensembl ID:
- ENSDARG00000093281
- ZFIN ID:
- ZDB-GENE-060526-121
- Description:
- Novel protein similar to vertebrate Nipped-B homolog (Drosophila) (NIPBL) [Source:UniProtKB/TrEMBL;A
- Human Orthologue:
- NIPBL
- Human Description:
- Nipped-B homolog (Drosophila) [Source:HGNC Symbol;Acc:28862]
- Mouse Orthologue:
- Nipbl
- Mouse Description:
- Nipped-B homolog (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1913976]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa8770 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa1954 | Essential Splice Site | F2 line generated | During 2018 |
Mutation Details
- Allele Name:
- sa8770
- 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 2018.
- Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000134510 | Nonsense | 116 | 1189 | 3 | 28 |
| ENSDART00000141735 | None | 315 | None | 8 |
The following transcripts of ENSDARG00000093281 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 5 (position 8306136)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 7555024 GRCz11 5 8059662 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TTAGTTAGTATTTGAAATGGATATTTTGATTATTTCAGTTGCAAGACGTT[T/A]AAAGATGAAGCAGAAGAAGAGGAAAGTGTATGAGCCCAAGCKGACTCCTG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa1954
- Current Status:
-
F2 line generated
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 2018.
- Mutation:
- G > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000134510 | Essential Splice Site | 971 | 1189 | 24 | 28 |
| ENSDART00000141735 | None | 315 | None | 8 |
The following transcripts of ENSDARG00000093281 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 5 (position 8330438)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 7531145 GRCz11 5 8035783 - KASP Assay ID:
- 554-1942.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TGGTCAAGCATGCTATGACTATGCAGCCCTACCTCACCACCAAGTGCAGT[G/T]TAAGTGCACGCTTCCTCTCTCCATCAGCACATGCYCAACTACCACTGTGA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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