ZMP
sars2
Ensembl ID:
ZFIN ID:
Description:
seryl-tRNA synthetase, mitochondrial [Source:RefSeq peptide;Acc:NP_957473]
Human Orthologue:
FBXO17
Human Description:
F-box protein 17 [Source:HGNC Symbol;Acc:18754]
Mouse Orthologue:
Sars2
Mouse Description:
seryl-aminoacyl-tRNA synthetase 2 Gene [Source:MGI Symbol;Acc:MGI:1919234]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa39039 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42502 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa39038 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39039
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 |
---|---|---|---|---|---|
ENSDART00000027424 | Nonsense | 20 | 510 | 1 | 16 |
Genomic Location (Zv9):
Chromosome 15 (position 13554915)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 14706796 |
GRCz11 | 15 | 14642753 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCTGCAAGGGTAGCTTCACGGGTTTGCTCTTTCTATCTGCTTTTGTCCT[C/A]GAGACACGGTGTCAGCAGTGGCTGCAGATGGTCCGGCCGGTCCTGCTCCT
Long Flanking Sequence:
CAATTTAAAATGTGAATAATTGCTTATTTTTTTCCATTATGGTTTAATATTCATTTAAAGATATATTATGCATTATCCTACGTCATAACGTTAGTAAGGTGTTTATTACTGTTTTATATAATTATAACAAGAACAACACTTATTATTATTTTATTATTTAAATTACAGGTATTAGTATGAATTTTGCAGTCCTGTAATATTATAGTGATGTATTTTGATAGATCTGATAATTTTGTGAATAGTTTGATAAATCAATTCAACAATAATAAAAACAATAATAACAAAAACTCGATTATATAATAGATTATTTTTTTCCGGATTGTTTTGATAAAAAAATACAGAAATTATAGTTATATAGGGCTGTTTATGTTTGTAGGTAAAGTCCTTTACACGAAATGAACCCTTTCGGCTTCCCTACAGTTCAACTGTCATCCCATCCAGCATGGCGTCCTCTGCAAGGGTAGCTTCACGGGTTTGCTCTTTCTATCTGCTTTTGTCCT[C/A]GAGACACGGTGTCAGCAGTGGCTGCAGATGGTCCGGCCGGTCCTGCTCCTCCGCCTCGGTCAAGAGCAGCCTCTACGAGCATGTGCTGGACGGGTACAGTCACAAACCCGAGCTGGACATGAAGCGAGTGTGCGAGGAGGCGGAGGCGCTGACAGCAGAGCTGGAGGACCGCAGAGGAGACCTGAGGCCAGCAGATGTCCCGCTCATAGTAAGACCACACATTGGGATAAAGTTGGTTTTATATTCACAACCCTACTGAAAAAACAGCTTAAACCAGCCTAGGCTGGTTAAGAAAAAAACTGCAAAGTTTTATTAAATAAAAAGAATAAAAATAAATAAATAGACAACAATAGGTGATACAATCAGGGATAATGCTATCTTACAAGTTATCTTTTTAATGGTAGGCTTGACAACATCTGTCTTATCTATTGAATCTATCTATTTTCGGTCTTTGCATCTTTGTCCAAAGATACACATCTTTTGCCATGAAGCAAGCTGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42502
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027424 | Essential Splice Site | 121 | 510 | 2 | 16 |
Genomic Location (Zv9):
Chromosome 15 (position 13554004)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 14707707 |
GRCz11 | 15 | 14643664 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAGAAGGCAGAAAGCAAGTGGTCAGTTCTACAGTCCGTGAGCTTGTGG[T/C]AAGTGTACGCACACATTGGTAACACTTTACAATAAGGTTGTATTAGTTAA
Long Flanking Sequence:
CAACATCTGTCTTATCTATTGAATCTATCTATTTTCGGTCTTTGCATCTTTGTCCAAAGATACACATCTTTTGCCATGAAGCAAGCTGAGGTCTATAAATACTTGTCTGCCTCTATTATAATTTAAGTTTTCTGGGTATAAGGGCAGATTATTTTTGCTTGTTGTAAGAAAAAGGTAAATATAATTGACTATCTCTGAAAACGAGACAATATTTTTTGCTTGTCTAGAAATGGCTTCTTGTTTTAAGAATTTGTAGATGTTTGGACTTGAAACAAGACAAAAAGTCTTTAGCAAGAAAAATCTTTTTTAAGTGCAGCACAACATACACATTAAAACAGTACTGTTTCAGAAAATTTCAGTTCATCAATGTGAATACTTAAATATAGTGTTATTTTTTAAATAGATTTCAGTCTGGAAGAATCTACAGAAGGTGCAAGAAGAAATATCACATTTAGAAGGCAGAAAGCAAGTGGTCAGTTCTACAGTCCGTGAGCTTGTGG[T/C]AAGTGTACGCACACATTGGTAACACTTTACAATAAGGTTGTATTAGTTAATGTTAGTTAATGCAGTTACTAACATGAACAAGCTATGATTAGGGCTGTAACGATACACCAAACCCACGATTCGGTTCGTATCACGATTTTTGACCCACGATTCGATTCGTATCACGATTTTTTATTTTATTTTTTTCGTGTGGGGTGGGAAAAAAAAGATTTTTAAAACTATTTTTAATTAAATAACATTTGAAAAATCTTTATAAACTAAACATCAAAGAACAATATTAACTATGCATATTATTAACAATATAAATAGCCATATATAAAATAAATAAATAGCCAAAGCTATACCACTTCTGTTTTCTTTGTAACAAAATACTGTTGAAAAACCAAACAGTACTAAACTCCATTGTTTAGATGGTTCAAGCATGTTGAAAATTATTTTTCAATCAAGTTCTCTTACAAAGAAAAAGTAAATTAAATAGCTAGGGATGCTCATTTCGTTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39038
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027424 | Essential Splice Site | 472 | 510 | 15 | 16 |
Genomic Location (Zv9):
Chromosome 15 (position 13531193)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 14730518 |
GRCz11 | 15 | 14666475 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTATTCCACGTACCATCATTGCTATTTTGGAGACATACCAAACCAAGG[T/C]ACCATTTAGAGAAAACTTGTATGAAACGCTTTTTTTATTGCCAATGTGTG
Long Flanking Sequence:
GTTGAACACTAAAAAAGAAGATATTTTGAACAATGTTGCTGGCACCCATTGACTTCCATAATAGGAAAAAGAAAATACTATGGAAGTCAACGAGTTGCAGCAAGCACTGTTTTTTAAAAATATATATATATATTTTTTGGGAGAAATACTTGTCTGCTTTGCATCTTAGTTTATAATATCATCTTTCTTTCTTAAATAATAACAGATTTCCAGTGCCTCAAACTGCACAGATTACCAGAGCCGCCGTCTTGATATTCGATATGAGGGAGAAGATGGAAAACTTCAATATGCGCATACAGTAAGAGTGTTTCTAGTGTGGTAAAACCACCATGTTGAGGTTCATATTTCCATTTTTGTGCTGTGAAATATTAAGTTGGATCATAGTATAGAATAAAGAGCATTGTTTGTTTTAATTTTTTGTTCATTATTTCAGGTGAACGCTACAGCTTGTGCTATTCCACGTACCATCATTGCTATTTTGGAGACATACCAAACCAAGG[T/C]ACCATTTAGAGAAAACTTGTATGAAACGCTTTTTTTATTGCCAATGTGTGAACAGCTTATACAAACAATATATTTAGATGGTATAATTTTGATGCTGATGCATCGTTAAAAGAAAAAATAAGTTGTCTGCAGTATATCTGTAAATATCATTCATAATCAAATTATATAAATCGATTTGATATCTTGCCATGCATTGCAGAGCTTGTGCAAACACATCCACATCCCTGTGATCAGATGAATTCTATATTTAGCCCTTTATCTATATATATTTATCTATATATACCTTTTTCAGTATTAATGCTATTAATTTAATCTTTCCCTCCGTTTGTGTTCCATCAGAAAGGAACAGTTCAGGTTCCTGAGGTGTTGCAGCAGTACATCGGCATGGAAGTGATAGAAAAGCCTAAATACACTCCTATAAAGTATATTGGACCAAATCAACCCAAGCGAAAATAACACTTTTATTGGTGTATCAGACTTCAGTGAAGTACTTTGATTTG
Associated Phenotype:
Not determined