Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00912:Nostrin'

26860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nostrin

Ensembl Gene

ENSMUSG00000034738

Gene Name

nitric oxide synthase trafficker

Synonyms

mDaIP2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

IGL00912

Quality Score

Status

Chromosome

Chromosomal Location

68966144-69019674 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 69013163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041865]

AlphaFold

Q6WKZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000041865

SMART Domains

Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738

Domain	Start	End	E-Value	Type
Pfam:FCH	13	88	4.9e-12	PFAM
low complexity region	135	146	N/A	INTRINSIC
coiled coil region	160	190	N/A	INTRINSIC
coiled coil region	305	334	N/A	INTRINSIC
low complexity region	419	439	N/A	INTRINSIC
SH3	441	496	8.89e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141276

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired retinal vascular angiogenesis, endothelial cell proliferation, endothelial cell migration and induced neovascularization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,529,270 (GRCm39)	M957I	probably benign	Het
Cep83	C	T	10: 94,573,728 (GRCm39)	R206*	probably null	Het
H3f3b	A	T	11: 115,914,270 (GRCm39)	I125N	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Jag1	G	A	2: 136,957,493 (GRCm39)	T73M	probably damaging	Het
Mrps35	T	A	6: 146,957,419 (GRCm39)	I148N	possibly damaging	Het
Rer1	A	G	4: 155,167,122 (GRCm39)		probably null	Het
Scaper	A	G	9: 55,593,239 (GRCm39)	L466S	probably damaging	Het
Tmem87a	T	C	2: 120,234,417 (GRCm39)	D42G	possibly damaging	Het
Ttn	G	T	2: 76,569,176 (GRCm39)	T27239K	probably damaging	Het
Ugt3a1	G	A	15: 9,310,698 (GRCm39)	V327M	probably damaging	Het
Vmn2r100	A	G	17: 19,751,654 (GRCm39)	T566A	possibly damaging	Het

Other mutations in Nostrin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Nostrin	APN	2	69,015,898 (GRCm39)	splice site	probably benign
IGL00502:Nostrin	APN	2	69,014,336 (GRCm39)	missense	probably benign
IGL00767:Nostrin	APN	2	69,006,119 (GRCm39)	missense	probably benign	0.00
IGL00846:Nostrin	APN	2	69,015,899 (GRCm39)	splice site	probably benign
IGL02123:Nostrin	APN	2	68,986,453 (GRCm39)	splice site	probably benign
IGL02213:Nostrin	APN	2	69,014,262 (GRCm39)	missense	probably benign	0.25
R0295:Nostrin	UTSW	2	69,009,760 (GRCm39)	missense	probably benign	0.19
R0543:Nostrin	UTSW	2	69,019,475 (GRCm39)	makesense	probably null
R1384:Nostrin	UTSW	2	69,019,406 (GRCm39)	missense	probably benign	0.05
R1501:Nostrin	UTSW	2	68,989,129 (GRCm39)	missense	probably damaging	1.00
R1632:Nostrin	UTSW	2	69,006,078 (GRCm39)	missense	probably benign	0.21
R2012:Nostrin	UTSW	2	68,975,111 (GRCm39)	splice site	probably null
R2140:Nostrin	UTSW	2	68,996,347 (GRCm39)	missense	probably damaging	0.98
R2159:Nostrin	UTSW	2	69,011,266 (GRCm39)	splice site	probably null
R2329:Nostrin	UTSW	2	68,991,438 (GRCm39)	missense	probably damaging	1.00
R2890:Nostrin	UTSW	2	69,011,249 (GRCm39)	missense	probably benign
R4469:Nostrin	UTSW	2	69,006,061 (GRCm39)	missense	probably damaging	0.99
R4607:Nostrin	UTSW	2	69,014,243 (GRCm39)	missense	possibly damaging	0.89
R4608:Nostrin	UTSW	2	69,014,243 (GRCm39)	missense	possibly damaging	0.89
R4684:Nostrin	UTSW	2	69,014,268 (GRCm39)	missense	probably benign	0.00
R4719:Nostrin	UTSW	2	68,975,156 (GRCm39)	nonsense	probably null
R4846:Nostrin	UTSW	2	69,005,923 (GRCm39)	missense	probably damaging	1.00
R4911:Nostrin	UTSW	2	68,991,486 (GRCm39)	missense	possibly damaging	0.87
R4987:Nostrin	UTSW	2	68,986,775 (GRCm39)	missense	probably benign
R5054:Nostrin	UTSW	2	69,006,057 (GRCm39)	missense	possibly damaging	0.82
R5177:Nostrin	UTSW	2	69,006,098 (GRCm39)	missense	possibly damaging	0.83
R6561:Nostrin	UTSW	2	69,011,201 (GRCm39)	missense	probably benign
R6785:Nostrin	UTSW	2	69,014,271 (GRCm39)	missense	probably benign	0.01
R6789:Nostrin	UTSW	2	69,005,856 (GRCm39)	missense	probably benign
R7453:Nostrin	UTSW	2	69,014,240 (GRCm39)	missense	possibly damaging	0.95
R7465:Nostrin	UTSW	2	69,015,851 (GRCm39)	missense	possibly damaging	0.93
R7570:Nostrin	UTSW	2	69,006,150 (GRCm39)	missense	probably damaging	0.98
R7761:Nostrin	UTSW	2	68,991,466 (GRCm39)	missense	possibly damaging	0.88
R7802:Nostrin	UTSW	2	69,019,356 (GRCm39)	missense	probably benign	0.18
R8115:Nostrin	UTSW	2	69,011,264 (GRCm39)	critical splice donor site	probably null
R8160:Nostrin	UTSW	2	69,009,810 (GRCm39)	missense	probably damaging	0.98
R8844:Nostrin	UTSW	2	69,006,060 (GRCm39)	missense	probably damaging	0.99
R9046:Nostrin	UTSW	2	68,975,123 (GRCm39)	missense	probably benign
X0021:Nostrin	UTSW	2	68,975,136 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17