Incidental Mutation 'R1396:Nova1'
ID 162661
Institutional Source Beutler Lab
Gene Symbol Nova1
Ensembl Gene ENSMUSG00000021047
Gene Name NOVA alternative splicing regulator 1
Synonyms Nova-1, 9430099M15Rik
MMRRC Submission 039458-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.682) question?
Stock # R1396 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 46744678-46866143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46863676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 91 (F91L)
Ref Sequence ENSEMBL: ENSMUSP00000021438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021438]
AlphaFold Q9JKN6
Predicted Effect unknown
Transcript: ENSMUST00000021438
AA Change: F91L
SMART Domains Protein: ENSMUSP00000021438
Gene: ENSMUSG00000021047
AA Change: F91L

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: ENSMUST00000218829
Predicted Effect unknown
Transcript: ENSMUST00000219330
AA Change: F22L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220258
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 61,001,057 (GRCm39) P160S probably benign Het
Adamts12 G T 15: 11,311,558 (GRCm39) D1272Y probably benign Het
Akr1c20 A T 13: 4,557,726 (GRCm39) V267D probably damaging Het
C1s1 A G 6: 124,508,010 (GRCm39) S660P probably damaging Het
Ccdc202 A G 14: 96,119,987 (GRCm39) N248S probably benign Het
Ccdc40 A G 11: 119,122,629 (GRCm39) T144A possibly damaging Het
Cdk20 T C 13: 64,585,217 (GRCm39) I167T probably damaging Het
Chd6 A G 2: 160,825,023 (GRCm39) L1212S probably damaging Het
Clock G C 5: 76,414,649 (GRCm39) D15E probably benign Het
Clstn2 A G 9: 97,343,446 (GRCm39) V667A probably benign Het
Cr2 A T 1: 194,851,561 (GRCm39) probably null Het
Cyp2e1 A G 7: 140,352,992 (GRCm39) D343G probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Etf1 G A 18: 35,041,220 (GRCm39) T298I possibly damaging Het
Gm5431 T C 11: 48,786,261 (GRCm39) probably benign Het
Gss G A 2: 155,409,641 (GRCm39) T265I probably damaging Het
Heatr1 C T 13: 12,420,927 (GRCm39) S406L possibly damaging Het
Hgsnat C A 8: 26,447,363 (GRCm39) M310I possibly damaging Het
Inpp5b G A 4: 124,682,873 (GRCm39) R598H probably damaging Het
Ints2 G T 11: 86,140,074 (GRCm39) Q253K probably damaging Het
Kng1 A G 16: 22,897,730 (GRCm39) M377V probably benign Het
Krt72 C T 15: 101,694,440 (GRCm39) probably null Het
Lemd2 G C 17: 27,409,706 (GRCm39) R482G probably damaging Het
Lrpprc C T 17: 85,033,731 (GRCm39) D1049N possibly damaging Het
Lrrc49 A T 9: 60,587,810 (GRCm39) H117Q probably damaging Het
Mcm6 A T 1: 128,279,213 (GRCm39) F191Y probably damaging Het
Mecom T C 3: 30,033,949 (GRCm39) T252A possibly damaging Het
Mgat4e T C 1: 134,469,271 (GRCm39) T258A probably benign Het
Mpeg1 A G 19: 12,440,168 (GRCm39) N542S probably damaging Het
Nln C T 13: 104,198,261 (GRCm39) V184I probably benign Het
Polk T C 13: 96,620,716 (GRCm39) I516V probably benign Het
Ppig C T 2: 69,579,362 (GRCm39) P357S unknown Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasal2 A T 1: 156,992,236 (GRCm39) H552Q probably damaging Het
Rnf41 G A 10: 128,271,440 (GRCm39) E117K probably benign Het
Sbk3 A G 7: 4,970,452 (GRCm39) Y306H possibly damaging Het
Senp1 A G 15: 97,974,435 (GRCm39) S126P probably benign Het
Sfr1 A G 19: 47,722,129 (GRCm39) K182E probably benign Het
Slc25a4 C A 8: 46,662,325 (GRCm39) R111L probably damaging Het
Slc9c1 A T 16: 45,393,710 (GRCm39) Y551F probably benign Het
Stard4 A T 18: 33,339,263 (GRCm39) N80K probably damaging Het
Tbk1 G A 10: 121,407,821 (GRCm39) T104M probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tmem102 A T 11: 69,695,196 (GRCm39) W259R probably damaging Het
Tnk1 A T 11: 69,743,962 (GRCm39) C466S probably benign Het
Tspoap1 A C 11: 87,656,946 (GRCm39) Q307P probably damaging Het
Ugt2b35 A G 5: 87,159,389 (GRCm39) N528D possibly damaging Het
Usp6nl A G 2: 6,431,809 (GRCm39) probably null Het
Vmn1r203 C T 13: 22,708,678 (GRCm39) T153M probably benign Het
Vmn1r89 T A 7: 12,953,938 (GRCm39) S157T probably damaging Het
Vmn2r103 A T 17: 20,013,230 (GRCm39) Y117F probably benign Het
Vmn2r116 A C 17: 23,605,115 (GRCm39) M143L probably benign Het
Vmn2r62 A T 7: 42,414,261 (GRCm39) D727E probably damaging Het
Vps13c A G 9: 67,862,304 (GRCm39) I2974V probably benign Het
Wrn C T 8: 33,758,847 (GRCm39) G769D probably damaging Het
Zhx3 T A 2: 160,622,940 (GRCm39) H409L possibly 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
IGL03150:Nova1 APN 12 46,747,455 (GRCm39) missense possibly damaging 0.53
R1302:Nova1 UTSW 12 46,767,581 (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
Predicted Primers PCR Primer
(F):5'- TTCAGAGGAACCACATTTCCTTATGCC -3'
(R):5'- GCAAATTGTTAGAACGTGTGAATCCCG -3'

Sequencing Primer
(F):5'- TTATGCCAACTGTCCAGGG -3'
(R):5'- CGTGTGAATCCCGAAAACTG -3'
Posted On 2014-03-17