ZMP

LOC555828

Ensembl ID:

ENSDARG00000074565

Human Orthologue:

PUSL1

Human Description:

pseudouridylate synthase-like 1 [Source:HGNC Symbol;Acc:26914]

Mouse Orthologue:

Pusl1

Mouse Description:

pseudouridylate synthase-like 1 Gene [Source:MGI Symbol;Acc:MGI:3047787]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10331	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa10331

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113096	Essential Splice Site	204	280	5	7
ENSDART00000113096	Essential Splice Site	204	280	5	7

Genomic Location (Zv9):

Chromosome 11 (position 3576368)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	3494872
GRCz11	11	3514259

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTAGCCCAGCTGGAGCCTGGAGAATCATTCTCTCAGAGACACTTTCAAAG[G/A]TAYGACTCAYAAGTGGAGTGGGAAGACACCAAAAYAAGATATTWAGCAGA

Long Flanking Sequence:

AAATTATAGAAAAACTGTTTAAATATTTTTGCTGCTTGTTCAAACAACATATTTAAAGTGAGTTGAAACAACACAACACTTAAGGTTATATTGGGACAACTTCTTTGTTTTTTGTTCAATTCACTTAAATTTGTCAAAATGATTACGTTAACCTAATCGATTTGTGTTGGCACAACATGAAGTGATGGTGTGGAACCCTGCATTATTTACAGTGTTTGTCATGCAATTTGAAAAACCGAATTAATTAATTTAAAAATATATATATATATTTAATTAAAAAGTAATTACATGCAGTATTAAAGTACTTCATTGCTTTATTTTCCCCACAGGAGGTTAAATATTGATGCGATGCGTGAGGCGTCAGCACTGCTGTTAGGAACCCATGACTTCAGCACTTTTCGGGCCTTGAGCTCCGATGCCCCCTTTAAGTGCCCTGTGAAGACCCTCGATTTAGCCCAGCTGGAGCCTGGAGAATCATTCTCTCAGAGACACTTTCAAAG[G/A]TACGACTCATAAGTGGAGTGGGAAGACACCAAAACAAGATATTTAGCAGAATGTTCGAGCTACTGCTTTCCATATCATCCTCCTGGAACAAAAATATTGACAGATTTGCAGTAATTCATTCATTTTCCTTATGAATCTTACAGGGGTGTCAAAATTAATTGTTTCTTCGGTGCACTGCGATGCAGACGCGGACAATTCTGTAGCGGTTCGGTAATAATCATAACCAGTTATTATGTACTGACGTCATTTATCTCCTATGCGCTCTGTCGCGAGGGAGGTGAGCGCGAGTATTTACAACACTCAGGCAACTCAGGGCCGGCCCGTGGCATAGGCACCATAGGCAAATGCAAAGGCCGCTGTATATCCAGGGGGGCGCCAGAAATGAGCGCGGTTCAGTTGGTTTTGTTTTCGATTTTCCTGACACACATTCAGTGATAGACTGCAATAACTCAAAAACCTCTTACACTAAAAAGATCTAAAGTGTGTTTACTACAAAAAGA

Associated Phenotype:

Not determined