Incidental Mutation 'IGL00476:Nyx'
ID12820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nyx
Ensembl Gene ENSMUSG00000051228
Gene Namenyctalopin
SynonymsCSNB4, nob, CSNB1, CLNP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00476
Quality Score
Status
ChromosomeX
Chromosomal Location13466110-13489313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13487025 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 373 (F373L)
Ref Sequence ENSEMBL: ENSMUSP00000056313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050434]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050434
AA Change: F373L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056313
Gene: ENSMUSG00000051228
AA Change: F373L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LRRNT 25 61 5.96e-3 SMART
LRR_TYP 80 103 2.3e-5 SMART
LRR 104 128 2.92e1 SMART
LRR 129 152 7.36e0 SMART
LRR 153 175 3.18e1 SMART
LRR 200 223 1.33e-1 SMART
LRR 224 247 3.97e0 SMART
LRR 248 271 7.55e-1 SMART
LRR_TYP 272 295 2.24e-3 SMART
LRR 296 319 3.02e0 SMART
low complexity region 320 330 N/A INTRINSIC
LRRCT 331 382 1.55e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121165
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation fail to display the dark-adapted electroretinographic b-wave, and exhibit abnormal rod and cone electrophysiology, and absent visual evoked potential. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik A C X: 107,816,160 probably benign Het
4931414P19Rik T C 14: 54,595,578 T47A possibly damaging Het
Adgrv1 A G 13: 81,489,074 F3416S probably damaging Het
Arhgap42 T C 9: 9,006,343 D684G probably damaging Het
Atp13a1 T C 8: 69,796,897 L270P probably damaging Het
Baz2b T C 2: 59,913,739 N1474S probably benign Het
Chrna6 A G 8: 27,406,532 I439T probably damaging Het
Cylc2 T C 4: 51,228,157 M76T probably damaging Het
Ddx19a T C 8: 110,976,470 K445R probably benign Het
Dennd4a A T 9: 64,911,762 Y1733F probably damaging Het
Dopey2 G A 16: 93,800,026 probably benign Het
Dpcr1 G T 17: 35,638,102 H202N possibly damaging Het
Ephb3 T A 16: 21,220,415 probably null Het
Gpc2 G A 5: 138,274,309 probably benign Het
Ift172 A G 5: 31,275,896 Y550H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Ldhd G T 8: 111,628,638 R238S possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep T G 14: 60,827,361 L388R probably damaging Het
Naa35 A G 13: 59,630,055 D610G probably damaging Het
Nae1 A T 8: 104,526,381 L137Q possibly damaging Het
Nt5dc3 T C 10: 86,833,974 probably null Het
Scaf11 A T 15: 96,418,580 D1034E possibly damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taar7a A T 10: 23,992,396 probably benign Het
Tcf23 G T 5: 30,973,525 C169F probably benign Het
Trim7 A T 11: 48,848,078 N308I probably benign Het
Ubxn8 T C 8: 33,635,305 E89G probably benign Het
Other mutations in Nyx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0494:Nyx UTSW X 13487269 missense probably benign 0.00
R2006:Nyx UTSW X 13486735 missense probably damaging 1.00
Posted On2012-12-06