ZMP
im:6908224
Ensembl ID:
ZFIN ID:
Human Orthologue:
MRPL2
Human Description:
mitochondrial ribosomal protein L2 [Source:HGNC Symbol;Acc:14056]
Mouse Orthologue:
Mrpl2
Mouse Description:
mitochondrial ribosomal protein L2 Gene [Source:MGI Symbol;Acc:MGI:1351622]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42317 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa42316 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42317
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000090644 | Nonsense | 18 | 294 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 13 (position 53984740)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 51659327 |
| GRCz11 | 13 | 51899830 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGTGTGGGTCTGCTGTCGTCTGCTCTGAGGGCTCTGTGTCTGTCGGGCT[C/A]GCGGACGGTCAGTTCTCAGGTCAGTTCTTCATCTTCTCCATAATCGATAT
Long Flanking Sequence:
GTGTCTGATTGATTATTGATTATTGATTGTGTTCAGGTCCAGGATGAGTGTGGGTCTGCTGTCGTCTGCGCTGAGGGCTCTGTGTCTGATTGATTATTGATTATTGATTGTGTTCAGGTCCAGGATGAGTGTGGGTCTGCTGTCGTCTGCTCTGAGGGCTCTGTGTCTGATTGATTATTGATTATTGATTGTGTTCAGGTCCAGGATGAGTGTGGGTCTGCTGTCGTCTGCGCTGAGGGCTCTGTGTCTGATTGATTATTGATTATTGATTGTGTTCAGGTCCAGGATGAGTGTGGGTCTGCTGTCGTCTGCTCTGAGGGCTCTGTGTCTGATTGATTATTGATTATTGATTGTGTTCAGGTCCAGGATGAGTGTGGGTCTGCTGTCGTCTGCTCTGAGGGCTCAGTGTCTGATTGATTATTGATTATTGATTGTGTTCAGGTCCAGGATGAGTGTGGGTCTGCTGTCGTCTGCTCTGAGGGCTCTGTGTCTGTCGGGCT[C/A]GCGGACGGTCAGTTCTCAGGTCAGTTCTTCATCTTCTCCATAATCGATATCTGATTGGCTGATCACTGAGCCCTGCTGTGTGTCCTCAGTGGGCGGGACCCTCGGCTGCTGCGAGCGCTCTGGTTGGCTGCCGCGGCTTCATGACGAGTGTGTGTCAGCTGCAGAACCGCACGCTGTGGAAGCAGAGGGAGAAATACACCATCCGGCCAATCGGCATGAAGAAGACTGGAGGACGAGACCACACGGGTCAGACGCCGCACCACCACCACATCATCACACGTGCAGTACATGAGTGTCAGACCTGTGCTCTATATGGAAATGTGCTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCAGGCAGGATAAAGACCCATGGTATCGGCGGCGGACACAAGCAGCGGCACCGCATCATTGATTTCCAGCGTCTGCGCAGTGAGCCGGGGAAAGAGCAGCCGGTGATGGTGGAGAAGGTGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42316
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000090644 | Essential Splice Site | 224 | 294 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 13 (position 53981160)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 51655747 |
| GRCz11 | 13 | 51896250 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGTGAGCGGCACCGCCATCATTCAGCTTCCCTCTAAACACCAGATTCAG[G/A]TGAGATTGAACAGACAAGTTTACATCACGCCCACAGCAAAACTCTTCATC
Long Flanking Sequence:
AAGGGACTAAGCTGAAAATGAATGACTGGAATGGTGAAGGTTCAGTGATCTGACCAGGACGCCACGCTTTCACCCAGGCCTGCTCTGCTGGAGAGAGATCTGCTCCTCTGCACGCCTGTAAAGCCCCAGAGGATTATGGTGTGAGTTTATTGGAAACTTCTGATTCATGCTGCTTCTGGGTGGAGGGTGCTGGAATATGGCCCTGCTCACCGGTTAGCCCTTTACTTCAGCAGCTCATGTGTTTCCCTCAGTGTTCCTCTGCTGAGCGTCTCGTCAGTCTTAGCTATATTGATCATCTCACTGCTGTTTCTGCATCTTCTGTTGTTTGGTATGTCCTGCGCTGTGCTCATCTTGTGGTGAAAGTGCTTAATGAATGGGTGAACCTGCAGTAGATGATGATGATGATGATGATGATCTGGTCTACAGGAACATGTGGAGTGCTGCTGCGGAAGGTGAGCGGCACCGCCATCATTCAGCTTCCCTCTAAACACCAGATTCAG[G/A]TGAGATTGAACAGACAAGTTTACATCACGCCCACAGCAAAACTCTTCATCATCAAAATATCACAAGTTTGAGCAAACACTGCAGTCAGACAAACACAGCTTCATGTTGAGGATCAGACATGCACTTACACATGATTTATTTGCCATGTGTTCTGTCCATATAGGGAGTCTGTGCTTGATTATAGCTGCACACACTGGCGCCCCCTGCTGGATACACACTCTGCACACGCAACACACACCTGTCCAGGGGCCTCATGTACGAAGACTTGCGTGGAAATCATACTAAAACATTACGTACGCACAAACCTGTAAATGTGTGTACGCAGTGTTTCATACATCTGAATTTTTTTCTGCGTACGCACATTTACAGCTTTGTGCGTACGCAATGTTTTAGTAAGATTTCCACGCAAGTCTTCGTACATGAGGAATCTCACGCATATTCTTTTGTACATCCGAATGAACGTGAAACTGAGCGCAACATGCACGAGCACAAAACCCCTC
Associated Phenotype:
Not determined