ZMP
zgc:110829
Ensembl ID:
ZFIN ID:
Description:
hypothetical protein LOC541427 [Source:RefSeq peptide;Acc:NP_001013571]
Human Orthologue:
BSCL2
Human Description:
Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:HGNC Symbol;Acc:15832]
Mouse Orthologue:
Bscl2
Mouse Description:
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:129839
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42340 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42340
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000128638 | Essential Splice Site | 283 | 391 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 14 (position 6175169)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 5862166 |
| GRCz11 | 14 | 6169000 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCAGCTTCCTGCAGTTTAACCTCAATGGTCGCCAGTTTCGCAGAAAGG[T/A]GCGCTTTCATTTTTTAATATACCTGTAGTGAGTAAGTCTAGTGAGTCAGT
Long Flanking Sequence:
CAATGTGAGTGCCGGTCGTCGGGGGAGACGGGAGGGGGTACAAGCATGCTTCGGCCTGGTTCAGGGCAACTGTACATAGTGTGAGTACGCCCTTAAGACTAAGGAATCAAATATTTGTAAACACTGATGAGGGTCAGGGTTGCTGAATAACTTCTTAGAGATTTTAGCTGCTGTCTGGGCTTTCCATGCCTGCCTTTTACTTCTGTCATTTCATTTTATTACACATAATTTTTTTACGTTACCTTATTGAATTCTGGTGATAATTTCAAGTCAACAGCACCTTTAGAAATATATTTGAGAAAAATTGTGACTGTGTAATAACAAAATTTAAGGCCTTTACATCCATGACTGTCTCTCTGATCTGCACAGGTATCTGCTGTATCAGTTCCCACTGATTTCAGCCCTGATGGGGGTGATGACTAACTTCACTTTCCTCAGTTTGATCATCGTTCTCAGCTTCCTGCAGTTTAACCTCAATGGTCGCCAGTTTCGCAGAAAGG[T/A]GCGCTTTCATTTTTTAATATACCTGTAGTGAGTAAGTCTAGTGAGTCAGTGTTGCTTCTGTGAATTTACTACGTTCTTTAAAATCACAACATTACAATATGGCAATTTACTGTAAATATTTTTCTTCAATATTTGTGTATTGTACAAAAATGAATGAAAATATGGGTAAAATCTCATCTGTAGTAAGTCAGTCTGGCCTATGCGAATGTACTACACACTTTAAAATCATAAAAAATACAGTAGGGTGAATTACTGTAAATATTTTAGAAAAATATTTGTTTACTGTACACATATGACTGGAAATATGGATAAATTCTCACCTGTAGTCAGTCAGTTTGGCTTCTGTGAATGTACTACATCCTTTAAAATCATAAAATTACAGTAGGGTGAATTACTGTAAACATTTTTAAAAATGATTGGTTTACTGTAAAAATATGAATGAAAATATGAGTAAAATCTCACCTGTAGTAAGTCAGTCTAGTGAGTCAGTCTTGCTTCTG
Associated Phenotype:
Not determined