Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00476:Nyx'

12820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nyx

Ensembl Gene

ENSMUSG00000051228

Gene Name

nyctalopin

Synonyms

CLNP, CSNB4, CSNB1, nob

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00476

Quality Score

Status

Chromosome

Chromosomal Location

13332349-13355552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13353264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 373 (F373L)

Ref Sequence

ENSEMBL: ENSMUSP00000056313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050434]

AlphaFold

P83503

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,833,035 (GRCm39)	T47A	possibly damaging	Het
Adgrv1	A	G	13: 81,637,193 (GRCm39)	F3416S	probably damaging	Het
Arhgap42	T	C	9: 9,006,344 (GRCm39)	D684G	probably damaging	Het
Atp13a1	T	C	8: 70,249,547 (GRCm39)	L270P	probably damaging	Het
Baz2b	T	C	2: 59,744,083 (GRCm39)	N1474S	probably benign	Het
Chmp1b2	A	C	X: 106,859,766 (GRCm39)		probably benign	Het
Chrna6	A	G	8: 27,896,560 (GRCm39)	I439T	probably damaging	Het
Cylc2	T	C	4: 51,228,157 (GRCm39)	M76T	probably damaging	Het
Ddx19a	T	C	8: 111,703,102 (GRCm39)	K445R	probably benign	Het
Dennd4a	A	T	9: 64,819,044 (GRCm39)	Y1733F	probably damaging	Het
Dop1b	G	A	16: 93,596,914 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,039,165 (GRCm39)		probably null	Het
Gpc2	G	A	5: 138,272,571 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Kat2a	G	A	11: 100,596,210 (GRCm39)	R782W	probably damaging	Het
Ldhd	G	T	8: 112,355,270 (GRCm39)	R238S	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mipep	T	G	14: 61,064,810 (GRCm39)	L388R	probably damaging	Het
Mucl3	G	T	17: 35,948,994 (GRCm39)	H202N	possibly damaging	Het
Naa35	A	G	13: 59,777,869 (GRCm39)	D610G	probably damaging	Het
Nae1	A	T	8: 105,253,013 (GRCm39)	L137Q	possibly damaging	Het
Nt5dc3	T	C	10: 86,669,838 (GRCm39)		probably null	Het
Scaf11	A	T	15: 96,316,461 (GRCm39)	D1034E	possibly damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Taar7a	A	T	10: 23,868,294 (GRCm39)		probably benign	Het
Tcf23	G	T	5: 31,130,869 (GRCm39)	C169F	probably benign	Het
Trim7	A	T	11: 48,738,905 (GRCm39)	N308I	probably benign	Het
Ubxn8	T	C	8: 34,125,333 (GRCm39)	E89G	probably benign	Het

Other mutations in Nyx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0494:Nyx	UTSW	X	13,353,508 (GRCm39)	missense	probably benign	0.00
R2006:Nyx	UTSW	X	13,352,974 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06