ZMP
mrpl22
Ensembl ID:
ZFIN ID:
Description:
39S ribosomal protein L22, mitochondrial [Source:RefSeq peptide;Acc:NP_001116093]
Human Orthologue:
MRPL22
Human Description:
mitochondrial ribosomal protein L22 [Source:HGNC Symbol;Acc:14480]
Mouse Orthologue:
Mrpl22
Mouse Description:
mitochondrial ribosomal protein L22 Gene [Source:MGI Symbol;Acc:MGI:1333794]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa3132 | Essential Splice Site | F2 line generated | Not yet available |
| sa9149 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa3132
Status:
F2 line generated
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086060 | Essential Splice Site | 91 | 209 | 4 | 7 |
The following transcripts of ENSDARG00000060798 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 35714388)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 36707636 |
| GRCz11 | 21 | 36392816 |
KASP Assay ID:
554-3368.1 (used for ordering genotyping assays)
KASP Sequence:
ACGGCAGATTAAATACAGTAAAGACAAGATGTGGTACTTGGCTAAATTGG[T/C]GAGTGATAAATATTTGTACAATGACTGTCACTTGGTAATGTGAAGATTGA
Long Flanking Sequence:
GCGTACTGCGTCAAAGCCTTGTGAACCGTGCTCAGGCATACCTCTTCCAACCATGCCAGGGCCGGCCAAGTGAACCGTGCCTGAGCCTGATTCAGCACACTCACACTTCTCAAACGATCCGGGAAATGGGCCTGGGCACGGTTCGGATAGCATAGTGTGAGTGCGCCATGAGTGCGCTCATTACAATGAGTTTTTGAGTGAGTTGCTAATTAGATTGAATGGTCTATGCAATGCTAAGCTAATCTAAAAGTACTCCTGTTAGACCCAAAGATTGACTGAATAGATTCACAAATGGTAAAACTCAACTGTTCTACTCTAGGGACACTGTAAAATGCATCTCTTTCATAAAAAGGTGAAGTGTTTATAAAATATAAGTTGATTACTTGGTTAAATTGTAATAAAATGGCCTTGTGTTTTTGTTTGTGTGTTTTAGGAGATCTGTCACTCCAGACGGCAGATTAAATACAGTAAAGACAAGATGTGGTACTTGGCTAAATTGG[T/C]GAGTGATAAATATTTGTACAATGACTGTCACTTGGTAATGTGAAGATTGAATTAGCAGCCTGTCTCATATGTGATCAATCTGTTTTTCAGATCAGAGGTATGACCATTGACCAGGCACTTGTTCAGCTTGAGTTCAATGACAAGAAGGGAGCTAAAATAATCAGAGAGGTAAAAAAACTAAATCTGATTTGACAAATATAAAGCATTCATTTTCTTTTCATGTTAGTCCCTTTATTAATCTGGGGACGCCACAGCAGAATGAACCGCCAACTTATCCAACATATGTTTTACGCTGCGGATGCTCTTCCAGCTGCAACACATCACTGGGATACATCCATATACACCCATTCACACATATACACTATAGACAATTTAGACCACCCAATTCACCTATACCACGTCTTTGGACTGTGGGGGAAAGCAGAGCTCCTGGATAAAACCCATTCAAACAAGGGGAGAACATGCAAACTCCACACAGAAATGCCTAGAGCCGAGGCTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9149
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000086060 | Essential Splice Site | 92 | 209 | None | 7 |
The following transcripts of ENSDARG00000060798 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 35714299)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 36707547 |
| GRCz11 | 21 | 36392727 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGAAGATTGAATTAGSAGCCTGTCTCATATGTRATMAATCTGTTTTTC[A/T]GATCAGAGGTATGACCATTGACCAGGCACTYGTTCAGCTTRAGTTCAATG
Long Flanking Sequence:
ATTCAGCACACTCACACTTCTCAAACGATCCGGGAAATGGGCCTGGGCACGGTTCGGATAGCATAGTGTGAGTGCGCCATGAGTGCGCTCATTACAATGAGTTTTTGAGTGAGTTGCTAATTAGATTGAATGGTCTATGCAATGCTAAGCTAATCTAAAAGTACTCCTGTTAGACCCAAAGATTGACTGAATAGATTCACAAATGGTAAAACTCAACTGTTCTACTCTAGGGACACTGTAAAATGCATCTCTTTCATAAAAAGGTGAAGTGTTTATAAAATATAAGTTGATTACTTGGTTAAATTGTAATAAAATGGCCTTGTGTTTTTGTTTGTGTGTTTTAGGAGATCTGTCACTCCAGACGGCAGATTAAATACAGTAAAGACAAGATGTGGTACTTGGCTAAATTGGTGAGTGATAAATATTTGTACAATGACTGTCACTTGGTAATGTGAAGATTGAATTAGCAGCCTGTCTCATATGTGATCAATCTGTTTTTC[A/T]GATCAGAGGTATGACCATTGACCAGGCACTTGTTCAGCTTGAGTTCAATGACAAGAAGGGAGCTAAAATAATCAGAGAGGTAAAAAAACTAAATCTGATTTGACAAATATAAAGCATTCATTTTCTTTTCATGTTAGTCCCTTTATTAATCTGGGGACGCCACAGCAGAATGAACCGCCAACTTATCCAACATATGTTTTACGCTGCGGATGCTCTTCCAGCTGCAACACATCACTGGGATACATCCATATACACCCATTCACACATATACACTATAGACAATTTAGACCACCCAATTCACCTATACCACGTCTTTGGACTGTGGGGGAAAGCAGAGCTCCTGGATAAAACCCATTCAAACAAGGGGAGAACATGCAAACTCCACACAGAAATGCCTAGAGCCGAGGCTCAAACCAGCGACCTTTTTGCTGTGACGCAATTGTGCTACCCACTGCTCCACCGTGTCGCCCAAGTATAAAGCGTATTTAACCCAAATGAAG
Associated Phenotype:
Not determined