Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Nosip'

513472

Institutional Source

Beutler Lab

Gene Symbol

Nosip

Ensembl Gene

ENSMUSG00000003421

Gene Name

nitric oxide synthase interacting protein

Synonyms

CGI-25, 2310061K06Rik

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R6370 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

44711853-44727634 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 44726164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103460 (fasta)

Gene Model

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

AlphaFold

Q9D6T0

Predicted Effect

probably null
Transcript: ENSMUST00000003513

SMART Domains

Protein: ENSMUSP00000003513
Gene: ENSMUSG00000003421

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 null
Transcript: ENSMUST00000107829

SMART Domains

Protein: ENSMUSP00000103460
Gene: ENSMUSG00000003421

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: ENSMUST00000210668

Predicted Effect

probably benign
Transcript: ENSMUST00000211465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210998

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,717,024 (GRCm39)	V67A	probably damaging	Het
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Atxn10	T	C	15: 85,277,586 (GRCm39)	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,287,429 (GRCm39)	G47S	probably damaging	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,646,334 (GRCm39)	V98A	probably damaging	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or51f2	A	T	7: 102,526,377 (GRCm39)	T17S	probably benign	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Trim55	G	A	3: 19,745,650 (GRCm39)	E509K	possibly damaging	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	probably damaging	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
IGL02676:Nosip	APN	7	44,726,752 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGATTCCCTCACTAACGC -3'
(R):5'- AGTTTGCAGTGCAGGCTAGG -3'

Sequencing Primer
(F):5'- AGGGCCCAATGTCCAGGATTC -3'
(R):5'- GCTGCAGCACGATGATGTC -3'

Posted On

2018-04-27