Incidental Mutation 'IGL03150:Nova1'
ID 411074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nova1
Ensembl Gene ENSMUSG00000021047
Gene Name NOVA alternative splicing regulator 1
Synonyms Nova-1, 9430099M15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # IGL03150
Quality Score
Status
Chromosome 12
Chromosomal Location 46744678-46866143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46747455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 274 (N274S)
Ref Sequence ENSEMBL: ENSMUSP00000021438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021438]
AlphaFold Q9JKN6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021438
AA Change: N274S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047
AA Change: N274S

DomainStartEndE-ValueType
KH 48 121 3.32e-13 SMART
low complexity region 150 169 N/A INTRINSIC
KH 170 242 8.11e-17 SMART
low complexity region 273 299 N/A INTRINSIC
low complexity region 325 402 N/A INTRINSIC
KH 420 493 7.99e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219501
Predicted Effect probably benign
Transcript: ENSMUST00000219886
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,996,596 (GRCm39) S399L probably damaging Het
Bltp1 T C 3: 37,002,215 (GRCm39) S1387P probably damaging Het
Corin T C 5: 72,460,201 (GRCm39) D886G probably damaging Het
Cracd G A 5: 77,015,097 (GRCm39) E57K probably damaging Het
Eif2ak3 A T 6: 70,869,420 (GRCm39) K702N possibly damaging Het
Ercc6 G T 14: 32,280,531 (GRCm39) M709I probably damaging Het
Foxa1 T A 12: 57,589,082 (GRCm39) E379D probably benign Het
Fscb C T 12: 64,519,204 (GRCm39) G754D unknown Het
Gzmb C T 14: 56,497,839 (GRCm39) V134I probably benign Het
Iho1 G T 9: 108,282,155 (GRCm39) T511K probably damaging Het
Muc5b A G 7: 141,419,246 (GRCm39) T4010A possibly damaging Het
Necab3 A G 2: 154,396,662 (GRCm39) Y55H probably damaging Het
Nup54 C A 5: 92,576,023 (GRCm39) G156V probably damaging Het
Obscn A T 11: 58,942,549 (GRCm39) C4317S probably damaging Het
Papln T A 12: 83,829,758 (GRCm39) W960R probably damaging Het
Pax4 C A 6: 28,444,338 (GRCm39) G239W probably null Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ptprj A G 2: 90,290,955 (GRCm39) S502P probably damaging Het
Slit3 A G 11: 35,399,084 (GRCm39) R150G possibly damaging Het
Srgap2 A T 1: 131,238,338 (GRCm39) V658E probably damaging Het
Taar7e A T 10: 23,913,528 (GRCm39) D6V probably benign Het
Trim25 T C 11: 88,890,831 (GRCm39) C173R probably damaging Het
Trmt1l T C 1: 151,329,643 (GRCm39) S529P probably benign Het
Ubn2 C T 6: 38,440,649 (GRCm39) P174S probably benign Het
Ubox5 A G 2: 130,442,060 (GRCm39) V209A probably benign Het
Vmn2r72 A G 7: 85,400,384 (GRCm39) F222L probably damaging Het
Xpot C T 10: 121,445,091 (GRCm39) A374T probably benign Het
Zfp451 A G 1: 33,816,535 (GRCm39) C472R probably damaging Het
Zfp777 A G 6: 48,021,059 (GRCm39) W232R probably damaging Het
Other mutations in Nova1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Nova1 APN 12 46,760,280 (GRCm39) critical splice donor site probably null
IGL02479:Nova1 APN 12 46,863,701 (GRCm39) missense unknown
IGL02742:Nova1 APN 12 46,767,475 (GRCm39) nonsense probably null
IGL02887:Nova1 APN 12 46,767,505 (GRCm39) missense unknown
IGL03064:Nova1 APN 12 46,746,861 (GRCm39) missense probably damaging 1.00
R1302:Nova1 UTSW 12 46,767,581 (GRCm39) missense unknown
R1396:Nova1 UTSW 12 46,863,676 (GRCm39) missense unknown
R1502:Nova1 UTSW 12 46,767,615 (GRCm39) missense unknown
R4027:Nova1 UTSW 12 46,863,801 (GRCm39) unclassified probably benign
R4329:Nova1 UTSW 12 46,767,615 (GRCm39) missense unknown
R4965:Nova1 UTSW 12 46,767,618 (GRCm39) nonsense probably null
R5015:Nova1 UTSW 12 46,863,738 (GRCm39) missense unknown
R5030:Nova1 UTSW 12 46,747,030 (GRCm39) missense probably damaging 0.97
R5691:Nova1 UTSW 12 46,863,738 (GRCm39) missense unknown
R7574:Nova1 UTSW 12 46,747,544 (GRCm39) missense unknown
R7690:Nova1 UTSW 12 46,767,549 (GRCm39) missense unknown
R7763:Nova1 UTSW 12 46,767,481 (GRCm39) missense unknown
R8496:Nova1 UTSW 12 46,760,325 (GRCm39) nonsense probably null
R8991:Nova1 UTSW 12 46,863,800 (GRCm39) missense unknown
R9133:Nova1 UTSW 12 46,865,524 (GRCm39) missense unknown
R9151:Nova1 UTSW 12 46,746,813 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02