ZMP
PGS1 (1 of 2)
Ensembl ID:
Description:
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:30029]
Human Orthologue:
PGS1
Human Description:
phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol;Acc:30029]
Mouse Orthologue:
Pgs1
Mouse Description:
phosphatidylglycerophosphate synthase 1 Gene [Source:MGI Symbol;Acc:MGI:1921701]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa44770 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa5854 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa44770
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 |
|---|---|---|---|---|---|
| ENSDART00000109196 | Essential Splice Site | 339 | 378 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 12 (position 35705698)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 34108379 |
| GRCz11 | 12 | 34209362 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATCGCTATAGTAACAGAGAACGAGGAACTCCAAACGCAACTTCAACAG[G/A]TTGGATTTCCTCTTAAACTGTGTTTCTTGAAGTTTTGGCTCTTGTAACCT
Long Flanking Sequence:
GTGTTTGAAGTGGCAAGCAATGCCTGCCGCCTATTAATAGAACACATGCTTGGATCATGTACGTACTTTGACTGACAGTTTTTTTTTTTTTTTTTTTTTTGATAACTTTTGCATTGTTGACAAAGGAAATGAAATATGTTCTACAGACAGTTACGCTCATGTGACAAGGAAACACACGCACACACTGTTAAAAAAAGACGTTTGCAATTGTGACCTGCTTTAAAGCATGTGCCAAATGCATCATTGTAAAATGAAAGTGTGTCATACTTGTCTAGTATTATAAAACATGACATAAAGCACATTATCATCATTTCTGGCCAGTTTATTCACATTTGGGTCATTATTTTACAGGTCTGTGGTATTATGTAGGAGGAAGAGACTGCCCCTGCCTCACCCTGATTGGCTCCCCAAATTTCGGCTATCGCTCTGTGCACAGGGATCTGGAGGCTCAGATCGCTATAGTAACAGAGAACGAGGAACTCCAAACGCAACTTCAACAG[G/A]TTGGATTTCCTCTTAAACTGTGTTTCTTGAAGTTTTGGCTCTTGTAACCTTTAAATCCCGAGATGTCATGTGACAGTTTAAATAGGTCATGGCATTTTTAGCATTCTTGTATCGTGATTATATAAACAGCGGAGAAAATAAGTCTTGAACACGTCACCGTTTTTCTCAGAAAACATATTTCTAAAGGCCATGAAAATTTCCCCAGATGTTGGGAACAGCCAAATAAATCCATATATACAAAGAAATCAAATCTAAATAGTTTACAAATGAAGTTATGCATAATAAAATGAAATGACGCAGGGAAAAAGTATTGAACACATGAAAAAAGGGAGGTGTAGAAAGGCAGTAAAAGCCCAGACAACAGCTAAAATCTCTTGGCAGTTCTTCAGCAACCCTCTGCCTCAATATTAGCTGCTTCAGTCCAACATCTACATTAGCAAGATGATGAAGATGAAGCCAAATTGGACATTTCATAAAGACAAAAACACAGCCAAAAGGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa5854
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109196 | Nonsense | 345 | 378 | 6 | 6 |
Genomic Location (Zv9):
Chromosome 12 (position 35703233)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 34105914 |
| GRCz11 | 12 | 34206897 |
KASP Assay ID:
554-3643.1 (used for ordering genotyping assays)
KASP Sequence:
TAAAAGAAAAGTTGTGTTCTCTGTCTTNGTTTAGGAGCAGGAGGTGTTATA[T/A]CAGAGCTCAACGCAAGTGTCAAACTCCAYTTTTAACCAGCCGGACCGCCA
Long Flanking Sequence:
CTGTACTTTAGTATGATGTTTTTTCTGGTTTATAGCTGCACTGTAAACATCATCAAATGATTTGTTTTATTGCAGCCTAAACAAGGTATCATTAAACCATGAAGTCAAGTTTTTATCACTCTTACACTTTGATGAGCATTGCAATATGAGATTTTAGTATTTTCGGCATAAAGTTATTGTTTGTACAGCTTTTCACTCATACAGGATGGCAACAGATTCTCTTATCTTTCATGCCTTAAACTAAATTACATAAAAGATAGGACATAATCACTTGCCTTTACTGATAGATCTGGGAAGAGAGGCTATAATAAAGATTAATTAATTGTAAGCGTTATCAGTTTTTATAGTTTGTGAAGTGCAGGATTCCTGTAATCTTCACTTATCAGTTGCTAAAGATCGTTTTTACGAGAAAAACCCTGTGATTATGTAACGCTTGAGATTTGACACAGATAAAAGAAAAGTTGTGTTCTCTGTCTTGTTTAGGAGCAGGAGGTGTTATA[T/A]CAGAGCTCAACGCAAGTGTCAAACTCCACTTTTAACCAGCCGGACCGCCATGTAAAGCTCTGGGTCAAACTGGTTACTCCACTCATCAAGAACTTCTTCTGAGTTCAACAGGCCTGATGTGATGGATATCACTGTCTGTGACAGGTCAGTTACTGATGTACTACTGAAACACATTTAACACTAGAACAAACATAACAGGGCTGTTTTCCAAAATACTTAACAGATTTTTTGCAAAATATCCAGCCAAAAAGTGTCCCATTGACTTTTACTGAAATTGCATTATTTAAAAGCACCAGTTTTTAATTTGTTTAAAAAATTGTTTAGAGAGGTTGGTGCCAATACGCTAGTGGGCAGTGCAATAACATATAGAGCAATGGTTCTGCAGGCCTCCTAAATTCGTAAAAAATTACTCGTGCTAGTAATTCGAGCTGGCTTGGGATATGTGCCAAAGGTTCCTACCACACCGTTTTAAGGCCAGGTATTGAGCCTGCAAGCGCTGC
Associated Phenotype:
Not determined