Incidental Mutation 'IGL03150:Nova1'
ID411074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nova1
Ensembl Gene ENSMUSG00000021047
Gene Nameneuro-oncological ventral antigen 1
SynonymsNova-1, 9430099M15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.709) question?
Stock #IGL03150
Quality Score
Status
Chromosome12
Chromosomal Location46694517-46818929 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46700672 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 274 (N274S)
Ref Sequence ENSEMBL: ENSMUSP00000021438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021438]
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
4932438A13Rik T C 3: 36,948,066 S1387P probably damaging Het
Aadat C T 8: 60,543,562 S399L probably damaging Het
C530008M17Rik G A 5: 76,867,250 E57K probably damaging Het
Ccdc36 G T 9: 108,404,956 T511K probably damaging Het
Corin T C 5: 72,302,858 D886G probably damaging Het
Eif2ak3 A T 6: 70,892,436 K702N possibly damaging Het
Ercc6 G T 14: 32,558,574 M709I probably damaging Het
Foxa1 T A 12: 57,542,296 E379D probably benign Het
Fscb C T 12: 64,472,430 G754D unknown Het
Gzmb C T 14: 56,260,382 V134I probably benign Het
Muc5b A G 7: 141,865,509 T4010A possibly damaging Het
Necab3 A G 2: 154,554,742 Y55H probably damaging Het
Nup54 C A 5: 92,428,164 G156V probably damaging Het
Obscn A T 11: 59,051,723 C4317S probably damaging Het
Papln T A 12: 83,782,984 W960R probably damaging Het
Pax4 C A 6: 28,444,339 G239W probably null Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ptprj A G 2: 90,460,611 S502P probably damaging Het
Slit3 A G 11: 35,508,257 R150G possibly damaging Het
Srgap2 A T 1: 131,310,600 V658E probably damaging Het
Taar7e A T 10: 24,037,630 D6V probably benign Het
Trim25 T C 11: 89,000,005 C173R probably damaging Het
Trmt1l T C 1: 151,453,892 S529P probably benign Het
Ubn2 C T 6: 38,463,714 P174S probably benign Het
Ubox5 A G 2: 130,600,140 V209A probably benign Het
Vmn2r72 A G 7: 85,751,176 F222L probably damaging Het
Xpot C T 10: 121,609,186 A374T probably benign Het
Zfp451 A G 1: 33,777,454 C472R probably damaging Het
Zfp777 A G 6: 48,044,125 W232R probably damaging Het
Other mutations in Nova1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Nova1 APN 12 46713497 critical splice donor site probably null
IGL02479:Nova1 APN 12 46816918 missense unknown
IGL02742:Nova1 APN 12 46720692 nonsense probably null
IGL02887:Nova1 APN 12 46720722 missense unknown
IGL03064:Nova1 APN 12 46700078 missense probably damaging 1.00
R1302:Nova1 UTSW 12 46720798 missense unknown
R1396:Nova1 UTSW 12 46816893 missense unknown
R1502:Nova1 UTSW 12 46720832 missense unknown
R4027:Nova1 UTSW 12 46817018 unclassified probably benign
R4329:Nova1 UTSW 12 46720832 missense unknown
R4965:Nova1 UTSW 12 46720835 nonsense probably null
R5015:Nova1 UTSW 12 46816955 missense unknown
R5030:Nova1 UTSW 12 46700247 missense probably damaging 0.97
R5691:Nova1 UTSW 12 46816955 missense unknown
R7574:Nova1 UTSW 12 46700761 missense unknown
R7690:Nova1 UTSW 12 46720766 missense unknown
R7763:Nova1 UTSW 12 46720698 missense unknown
Posted On2016-08-02