|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3835 (G1)|
|Chromosomal Location||29124181-29182471 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 29145060 bp (GRCm38)|
|Amino Acid Change||Serine to Leucine at position 519 (S519L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061578]|
AA Change: S519L
PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: S519L
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Setx||
(F):5'- CTCAACCAGACAGATGCTGTG -3'
(R):5'- AGTCAATTGCCAACCCAGAG -3'
(F):5'- CAGATGCTGTGTGTGACAAAGTC -3'
(R):5'- CAGAGACAAATTTCCTCGAAGG -3'