Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02676:Nosip'

303149

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nosip

Ensembl Gene

ENSMUSG00000003421

Gene Name

nitric oxide synthase interacting protein

Synonyms

CGI-25, 2310061K06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL02676

Quality Score

Status

Chromosome

Chromosomal Location

44711853-44727634 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44726752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 259 (A259E)

Ref Sequence

ENSEMBL: ENSMUSP00000103460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003513] [ENSMUST00000107829] [ENSMUST00000210088] [ENSMUST00000210520] [ENSMUST00000211465]

AlphaFold

Q9D6T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003513
AA Change: A284E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003513
Gene: ENSMUSG00000003421
AA Change: A284E

Domain	Start	End	E-Value	Type
Pfam:zf-NOSIP	4	78	1.2e-55	PFAM
coiled coil region	83	108	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107829
AA Change: A259E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103460
Gene: ENSMUSG00000003421
AA Change: A259E

Domain	Start	End	E-Value	Type
SCOP:d1rmd_2	31	79	2e-4	SMART
Blast:RING	46	226	4e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000209243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209901

Predicted Effect

probably benign
Transcript: ENSMUST00000210088

Predicted Effect

probably benign
Transcript: ENSMUST00000210520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210668

Predicted Effect

probably benign
Transcript: ENSMUST00000211465

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	G	A	18: 34,448,687 (GRCm39)	S1827N	probably damaging	Het
Atrnl1	T	A	19: 57,680,316 (GRCm39)	C739S	probably damaging	Het
Cep350	T	C	1: 155,737,977 (GRCm39)	E2622G	possibly damaging	Het
Chd5	C	T	4: 152,440,530 (GRCm39)		probably benign	Het
Chst11	T	A	10: 83,027,563 (GRCm39)	L330Q	probably damaging	Het
Clcnka	A	T	4: 141,120,094 (GRCm39)	V275E	probably damaging	Het
Clip4	G	A	17: 72,135,616 (GRCm39)	S456N	probably damaging	Het
Cmya5	A	T	13: 93,229,361 (GRCm39)	I1909N	probably damaging	Het
Cyp26b1	A	G	6: 84,553,626 (GRCm39)	I176T	probably damaging	Het
Dst	A	G	1: 34,346,668 (GRCm39)	R7717G	probably damaging	Het
Eml2	C	T	7: 18,918,846 (GRCm39)	R99*	probably null	Het
Fibin	T	C	2: 110,192,929 (GRCm39)	Q71R	probably benign	Het
Fsip2	T	G	2: 82,812,501 (GRCm39)	I2940S	possibly damaging	Het
Gabrb3	G	T	7: 57,241,112 (GRCm39)		probably benign	Het
Gfra1	G	A	19: 58,441,787 (GRCm39)	T48I	probably damaging	Het
Gm6483	C	T	8: 19,743,675 (GRCm39)		noncoding transcript	Het
Hdgfl1	G	A	13: 26,953,348 (GRCm39)	R242C	possibly damaging	Het
Hmcn1	T	C	1: 150,494,760 (GRCm39)	T4110A	probably benign	Het
Lama2	T	G	10: 26,994,489 (GRCm39)	M1807L	probably benign	Het
Larp4	T	C	15: 99,888,302 (GRCm39)	V113A	possibly damaging	Het
Mkx	T	C	18: 7,000,640 (GRCm39)	T101A	probably benign	Het
Nfe2l1	A	G	11: 96,718,491 (GRCm39)	F15L	probably damaging	Het
Nherf2	A	T	17: 24,860,930 (GRCm39)	V204E	probably damaging	Het
Nif3l1	G	A	1: 58,494,895 (GRCm39)		probably null	Het
Nop14	A	G	5: 34,796,565 (GRCm39)	V764A	probably damaging	Het
Ntn5	T	C	7: 45,341,300 (GRCm39)		probably benign	Het
Or9g20	T	C	2: 85,629,934 (GRCm39)	I227V	possibly damaging	Het
Phospho1	G	A	11: 95,721,714 (GRCm39)	G128D	probably damaging	Het
Ppp4r3a	G	A	12: 101,008,770 (GRCm39)	T703M	probably benign	Het
Pramel21	T	C	4: 143,342,667 (GRCm39)	F258S	possibly damaging	Het
Pramel58	A	G	5: 94,831,730 (GRCm39)	T246A	possibly damaging	Het
Prdm8	G	A	5: 98,334,418 (GRCm39)	E662K	probably damaging	Het
Ralgapa1	A	G	12: 55,723,202 (GRCm39)	S1775P	probably damaging	Het
Rapgef6	T	C	11: 54,540,172 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,677,966 (GRCm39)	T87A	possibly damaging	Het
Scrn3	A	G	2: 73,160,215 (GRCm39)	Q286R	probably benign	Het
Sema3d	A	T	5: 12,620,945 (GRCm39)	Q517L	probably benign	Het
Taf6l	T	C	19: 8,752,413 (GRCm39)	Y425C	probably damaging	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tcf3	C	T	10: 80,256,925 (GRCm39)	G64R	probably damaging	Het
Tmco4	T	C	4: 138,750,380 (GRCm39)		probably null	Het
Trappc11	A	G	8: 47,946,448 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,025 (GRCm39)	I193F	possibly damaging	Het
Vmn2r14	G	A	5: 109,367,882 (GRCm39)	T370I	probably benign	Het
Vmn2r65	T	A	7: 84,589,381 (GRCm39)	H845L	possibly damaging	Het
Vmn2r98	A	T	17: 19,285,521 (GRCm39)	T114S	probably benign	Het
Zfp280d	A	T	9: 72,242,356 (GRCm39)	R661S	probably damaging	Het
Zranb1	T	C	7: 132,568,410 (GRCm39)	I356T	probably benign	Het

Other mutations in Nosip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Nosip	APN	7	44,726,283 (GRCm39)	missense	probably damaging	1.00
IGL02245:Nosip	APN	7	44,723,466 (GRCm39)	missense	probably benign	0.13
IGL02385:Nosip	APN	7	44,726,156 (GRCm39)	missense	possibly damaging	0.90
R0295:Nosip	UTSW	7	44,726,340 (GRCm39)	missense	probably damaging	1.00
R1599:Nosip	UTSW	7	44,723,430 (GRCm39)	missense	probably benign	0.02
R1812:Nosip	UTSW	7	44,725,998 (GRCm39)	missense	probably damaging	0.99
R1843:Nosip	UTSW	7	44,726,733 (GRCm39)	splice site	probably null
R2018:Nosip	UTSW	7	44,726,033 (GRCm39)	missense	probably benign
R2359:Nosip	UTSW	7	44,723,450 (GRCm39)	missense	possibly damaging	0.82
R4857:Nosip	UTSW	7	44,726,102 (GRCm39)	missense	probably benign	0.06
R6072:Nosip	UTSW	7	44,726,072 (GRCm39)	missense	possibly damaging	0.67
R6370:Nosip	UTSW	7	44,726,164 (GRCm39)	critical splice donor site	probably null
R7973:Nosip	UTSW	7	44,726,784 (GRCm39)	missense	possibly damaging	0.93
X0026:Nosip	UTSW	7	44,725,821 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16