|Institutional Source||Beutler Lab|
|Gene Name||neuro-oncological ventral antigen 1|
|Is this an essential gene?||Possibly essential (E-score: 0.560)|
|Stock #||R1396 (G1)|
|Chromosomal Location||46694517-46818929 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 46816893 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 91 (F91L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021438 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021438]|
AA Change: F91L
AA Change: F91L
AA Change: F22L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born small, develop motor dysfunction associated with neuron apoptosis, and die within 10 days of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nova1||
(F):5'- TTCAGAGGAACCACATTTCCTTATGCC -3'
(R):5'- GCAAATTGTTAGAACGTGTGAATCCCG -3'
(F):5'- TTATGCCAACTGTCCAGGG -3'
(R):5'- CGTGTGAATCCCGAAAACTG -3'