ZMP

SF1

Ensembl ID:

Description:

splicing factor 1 [Source:HGNC Symbol;Acc:12950]

Human Orthologues:

KHDRBS3, SF1

Human Descriptions:

KH domain containing, RNA binding, signal transduction associated 3 [Source:HGNC Symbol;Acc:18117]
splicing factor 1 [Source:HGNC Symbol;Acc:12950]

Mouse Orthologue:

Khdrbs3

Mouse Description:

KH domain containing, RNA binding, signal transduction associated 3 Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa12636	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa12636

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000125996	Essential Splice Site	63	247	2	7

Genomic Location (Zv9):

Chromosome 9 (position 54510497)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	KN149702.1	84869
GRCz11	KN149702.1	84869

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CGCTAGAATGGGCCACGCTTTGGAGGAGATCAAAAAGTTCCTSATTCCGG[T/G]ACGWCTGTGCTGKTAWTACAGTGTCAGTGTGTTATTWCAGTATGCAGAAC

Long Flanking Sequence:

TATTATTATTATTATTGTTATTATTATTATTATTATTATTATTATTATTATTATTATCATTATCATTATTATTGTTGTTGTTATTATCATTTTTTAATATTTTTATTATTGTGGTTTTGGTTATTGTTTTTAATATTGTGTAAAAATATATAGATTTATTTTAATTTATAATTTTATAATAATATATTATAAAATCATCAATAAATAAATAAATATGTTTGTATGTATATTTATGATTTAATTTATGATTTATTTCAATGAATGCAATTCATTCCTGTGAAGCAAAGCAGAATTTCCAGCATCATTGTGCTAATGCCTAAATGTTTCTTTTGTTTTTCATTTACGTTAATAGGAAGAAGAGCTGCGAAAGAGCGGAGAGACAAAGTATCATCACCTGAATGAAGATCTCCATGTGCTTATTGAGGTGTTTGCTCCTCCGGCGGAAGCGTACGCTAGAATGGGCCACGCTTTGGAGGAGATCAAAAAGTTCCTCATTCCGG[T/G]ACGTCTGTGCTGTTATTACAGTGTCAGTGTGTTATTACAGTATGCAGAACGCAAGCCGAGCATCAGCATCTGTTACCTTGTTATGGTGTTTATTACCTTCAGACCAAAAAGTGCTATTTTAAAGGGGATCTTTTTAAATTGCGCTATTTTGGTGACTGTCATTTTAAATTCAAAAGAGATTGTGCTCTGAACCCTATTTTGAAAAAAAGGGCGGAGCTAAAAAAGCCTATGCATTGGCATAGCAGCAGATTCAAAATGGCTGCTTCTTACTCAGGGTTGTCTAGGCTAATGAGGGAGAGATCATCACTAACATGTAGGGCTTTCTCTCTCTGAAGACATGTACAAAGAAAGATTGTTAATCAAAGTGATTCTGCAGATGTTTTTTATCAAGTGTGATTATAAAAATTTAAATTTATTAATTATAAAATGTATTATTTAATTATTTATTTTTTCACCATTAGAAGCTGGTTATATTCACACACTGCTGACACACAATGATG

Associated Phenotype:

Not determined