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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |