Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01155:Nos1'

51220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nos1

Ensembl Gene

ENSMUSG00000029361

Gene Name

nitric oxide synthase 1, neuronal

Synonyms

bNOS, nNOS, 2310005C01Rik, Nos-1, NO

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01155

Quality Score

Status

Chromosome

Chromosomal Location

117781032-117958840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117945926 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1267 (I1267N)

Ref Sequence

ENSEMBL: ENSMUSP00000127432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]

Predicted Effect

probably damaging
Transcript: ENSMUST00000086451
AA Change: I1267N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: I1267N

Domain	Start	End	E-Value	Type
PDZ	26	100	2.73e-16	SMART
Pfam:NO_synthase	346	717	1e-226	PFAM
Pfam:Flavodoxin_1	757	930	3.5e-56	PFAM
Pfam:FAD_binding_1	985	1214	1.1e-84	PFAM
Pfam:NAD_binding_1	1246	1360	2.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102557
AA Change: I1301N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: I1301N

Domain	Start	End	E-Value	Type
PDZ	26	100	2.73e-16	SMART
Pfam:NO_synthase	350	712	2e-196	PFAM
Pfam:Flavodoxin_1	757	964	2.3e-55	PFAM
Pfam:FAD_binding_1	1019	1248	2.9e-88	PFAM
Pfam:NAD_binding_1	1280	1394	2.6e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142742
AA Change: I1267N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: I1267N

Domain	Start	End	E-Value	Type
PDZ	26	100	2.73e-16	SMART
Pfam:NO_synthase	346	717	4e-226	PFAM
Pfam:Flavodoxin_1	757	930	1.5e-55	PFAM
Pfam:FAD_binding_1	985	1214	3.2e-84	PFAM
Pfam:NAD_binding_1	1246	1360	1.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171055
AA Change: I1267N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: I1267N

Domain	Start	End	E-Value	Type
PDZ	26	100	2.73e-16	SMART
Pfam:NO_synthase	346	717	4e-226	PFAM
Pfam:Flavodoxin_1	757	930	1.5e-55	PFAM
Pfam:FAD_binding_1	985	1214	3.2e-84	PFAM
Pfam:NAD_binding_1	1246	1360	1.4e-23	PFAM

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 belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous hypomorphic mice exhibit enlarged stomachs, abnormal pyloric and lower esophageal sphincters, age-related cardiac hypertrophy, altered alcohol consumption and responses, decreased ovulation and reduced REM sleep. Homozygous null mice display increased neurogenesis in the adult brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adgrl3	T	A	5: 81,560,893	I409N	probably benign	Het
Akap13	A	G	7: 75,569,936	D29G	probably damaging	Het
Ap4e1	C	A	2: 127,043,445	T322K	probably damaging	Het
Arfgef1	G	A	1: 10,198,982		probably benign	Het
Asic5	A	G	3: 82,008,588	T282A	probably benign	Het
Bptf	T	C	11: 107,080,727	T985A	probably damaging	Het
Btnl9	A	G	11: 49,175,691	F349L	probably damaging	Het
Bves	T	A	10: 45,353,859	I253K	probably damaging	Het
Cars	T	A	7: 143,569,849	Y455F	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cuedc2	C	A	19: 46,332,649	V15F	probably damaging	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Fat1	G	A	8: 45,023,949	A2011T	probably damaging	Het
Fyb2	C	T	4: 104,999,386	T533I	probably benign	Het
Gm1043	T	C	5: 37,187,089	L182P	probably damaging	Het
Ice1	A	T	13: 70,604,082	V1295E	possibly damaging	Het
Il12b	T	A	11: 44,404,088	S18T	probably benign	Het
Iqcg	A	G	16: 33,040,875	V157A	probably damaging	Het
Itgax	T	A	7: 128,145,035	M937K	probably benign	Het
Large1	T	C	8: 73,131,989	S84G	probably benign	Het
Lrp1b	T	C	2: 41,770,935	T54A	probably benign	Het
Mfn1	A	G	3: 32,542,836	M148V	probably damaging	Het
Mobp	C	A	9: 120,168,234	T73K	probably benign	Het
Ms4a3	T	C	19: 11,629,655		probably benign	Het
Muc5ac	C	T	7: 141,806,943		probably benign	Het
Mzt2	A	C	16: 15,862,410	S104A	possibly damaging	Het
Naa16	T	A	14: 79,384,715	K27N	probably damaging	Het
Olfr16	T	A	1: 172,956,924	I43N	probably benign	Het
Rara	A	G	11: 98,968,184	E153G	possibly damaging	Het
Scn2a	T	G	2: 65,717,748	S66A	probably damaging	Het
Slc6a1	A	T	6: 114,314,465		probably null	Het
Sorbs3	A	G	14: 70,199,341	V136A	probably damaging	Het
Spink5	T	A	18: 43,981,147	H143Q	probably benign	Het
Susd2	G	A	10: 75,640,892	T99I	possibly damaging	Het
T	C	T	17: 8,441,745		probably null	Het
Tac2	G	A	10: 127,726,134		probably null	Het
Tfap4	G	T	16: 4,547,359	P180T	probably damaging	Het
Trap1	G	A	16: 4,043,978	Q641*	probably null	Het
Unc119	A	G	11: 78,348,609	N252S	probably damaging	Het

Other mutations in Nos1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Nos1	APN	5	117910100	missense	probably damaging	0.99
IGL01462:Nos1	APN	5	117867709	missense	probably benign	0.10
IGL01464:Nos1	APN	5	117943192	missense	probably damaging	1.00
IGL01620:Nos1	APN	5	117905309	critical splice acceptor site	probably null
IGL01621:Nos1	APN	5	117945884	missense	probably damaging	1.00
IGL01796:Nos1	APN	5	117938274	nonsense	probably null
IGL02003:Nos1	APN	5	117905465	missense	probably damaging	1.00
IGL02274:Nos1	APN	5	117897780	missense	probably damaging	1.00
IGL02885:Nos1	APN	5	117895790	missense	probably damaging	1.00
IGL02947:Nos1	APN	5	117943317	missense	probably damaging	0.99
IGL03088:Nos1	APN	5	117867258	missense	probably damaging	1.00
IGL03166:Nos1	APN	5	117914452	splice site	probably benign
Crumple	UTSW	5	117895860	missense	possibly damaging	0.95
penurious	UTSW	5	117895902	missense	probably damaging	0.97
spendthrift	UTSW	5	117953783	splice site	probably benign
squanderer	UTSW	5	117910238	missense	probably damaging	0.97
R0007:Nos1	UTSW	5	117910088	missense	probably damaging	1.00
R0012:Nos1	UTSW	5	117893902	missense	probably damaging	1.00
R0080:Nos1	UTSW	5	117893878	missense	probably damaging	1.00
R0212:Nos1	UTSW	5	117910212	missense	possibly damaging	0.57
R0240:Nos1	UTSW	5	117867883	missense	probably benign
R0240:Nos1	UTSW	5	117867883	missense	probably benign
R0454:Nos1	UTSW	5	117943320	missense	probably benign	0.00
R0494:Nos1	UTSW	5	117905474	missense	probably damaging	1.00
R0882:Nos1	UTSW	5	117947447	missense	probably damaging	1.00
R1099:Nos1	UTSW	5	117923395	missense	probably damaging	0.96
R1243:Nos1	UTSW	5	117905472	missense	probably damaging	1.00
R1387:Nos1	UTSW	5	117953783	splice site	probably benign
R1432:Nos1	UTSW	5	117949619	splice site	probably benign
R1698:Nos1	UTSW	5	117867232	missense	probably benign	0.01
R1710:Nos1	UTSW	5	117895919	missense	probably damaging	1.00
R1859:Nos1	UTSW	5	117905462	missense	possibly damaging	0.83
R1973:Nos1	UTSW	5	117936426	missense	possibly damaging	0.52
R2084:Nos1	UTSW	5	117943245	missense	probably damaging	1.00
R2112:Nos1	UTSW	5	117936571	missense	probably benign	0.00
R4689:Nos1	UTSW	5	117879385	missense	probably benign	0.04
R4769:Nos1	UTSW	5	117943245	nonsense	probably null
R4893:Nos1	UTSW	5	117952877	missense	possibly damaging	0.50
R4916:Nos1	UTSW	5	117947570	critical splice donor site	probably null
R4956:Nos1	UTSW	5	117947510	missense	probably benign
R4971:Nos1	UTSW	5	117943834	missense	probably benign	0.05
R4987:Nos1	UTSW	5	117926533	critical splice donor site	probably null
R5015:Nos1	UTSW	5	117867269	missense	probably damaging	1.00
R5031:Nos1	UTSW	5	117879313	missense	probably benign
R5137:Nos1	UTSW	5	117905313	missense	probably benign	0.29
R5481:Nos1	UTSW	5	117867754	missense	probably benign	0.06
R5541:Nos1	UTSW	5	117905394	missense	probably damaging	1.00
R5655:Nos1	UTSW	5	117923257	missense	probably damaging	1.00
R5866:Nos1	UTSW	5	117895902	missense	probably damaging	0.97
R5934:Nos1	UTSW	5	117936445	missense	probably damaging	0.99
R6158:Nos1	UTSW	5	117867574	missense	probably benign	0.05
R6225:Nos1	UTSW	5	117912852	missense	probably damaging	1.00
R6261:Nos1	UTSW	5	117936570	missense	probably benign
R6388:Nos1	UTSW	5	117914436	missense	possibly damaging	0.91
R6987:Nos1	UTSW	5	117895785	missense	probably benign	0.05
R7104:Nos1	UTSW	5	117947431	missense	probably damaging	1.00
R7136:Nos1	UTSW	5	117895860	missense	possibly damaging	0.95
R7276:Nos1	UTSW	5	117910238	missense	probably damaging	0.97
R7299:Nos1	UTSW	5	117867905	missense	possibly damaging	0.89
R7301:Nos1	UTSW	5	117867905	missense	possibly damaging	0.89
R7402:Nos1	UTSW	5	117949815	missense	probably benign	0.34
R7408:Nos1	UTSW	5	117867518	missense	probably damaging	1.00
R7618:Nos1	UTSW	5	117903944	missense	probably benign	0.01
R7689:Nos1	UTSW	5	117897727	missense	probably damaging	0.98
R7964:Nos1	UTSW	5	117900542	missense	probably damaging	1.00
X0025:Nos1	UTSW	5	117943825	missense	probably benign	0.00
X0026:Nos1	UTSW	5	117943152	missense	probably damaging	1.00
Z1177:Nos1	UTSW	5	117923278	missense	probably damaging	0.99

Posted On

2013-06-21