Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01462:Nos1'

88023

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nos1

Ensembl Gene

ENSMUSG00000029361

Gene Name

nitric oxide synthase 1, neuronal

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01462

Quality Score

Status

Chromosome

Chromosomal Location

118004904-118096905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118005774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 165 (R165C)

Ref Sequence

ENSEMBL: ENSMUSP00000127432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000138579] [ENSMUST00000142742] [ENSMUST00000171055]

AlphaFold

Q9Z0J4

Predicted Effect

probably benign
Transcript: ENSMUST00000086451
AA Change: R165C

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: R165C

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 benign
Transcript: ENSMUST00000102557
AA Change: R165C

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: R165C

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

noncoding transcript
Transcript: ENSMUST00000124194

Predicted Effect

probably benign
Transcript: ENSMUST00000138579

SMART Domains

Protein: ENSMUSP00000138176
Gene: ENSMUSG00000029361

Domain	Start	End	E-Value	Type
PDZ	26	80	1.26e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142742
AA Change: R165C

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: R165C

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 benign
Transcript: ENSMUST00000171055
AA Change: R165C

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: R165C

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	A	6: 92,871,247 (GRCm39)	A30S	probably benign	Het
Aspg	A	G	12: 112,089,387 (GRCm39)	T392A	probably benign	Het
Atp8b5	C	A	4: 43,368,010 (GRCm39)	Q878K	possibly damaging	Het
Ccdc85a	G	T	11: 28,526,506 (GRCm39)	H339Q	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cog4	C	T	8: 111,592,717 (GRCm39)	T430M	probably benign	Het
Col6a5	A	G	9: 105,823,274 (GRCm39)	Y28H	unknown	Het
Cth	A	T	3: 157,610,804 (GRCm39)	Y343N	probably damaging	Het
Dctn3	A	T	4: 41,719,854 (GRCm39)	L84*	probably null	Het
Epha5	A	T	5: 84,219,092 (GRCm39)	I868N	probably damaging	Het
Ephb2	T	C	4: 136,498,681 (GRCm39)	N133D	possibly damaging	Het
Epor	G	A	9: 21,870,752 (GRCm39)	P376L	probably damaging	Het
Gsdme	A	G	6: 50,204,354 (GRCm39)	V201A	possibly damaging	Het
Hdgf	G	A	3: 87,821,831 (GRCm39)	E149K	possibly damaging	Het
Lrrfip2	T	C	9: 111,034,917 (GRCm39)		probably null	Het
Ly6g6d	T	C	17: 35,293,226 (GRCm39)	I40V	probably benign	Het
Mlh3	G	A	12: 85,313,510 (GRCm39)	T892I	probably benign	Het
Mmp19	C	T	10: 128,634,011 (GRCm39)	T304I	probably damaging	Het
Mmp28	T	C	11: 83,334,602 (GRCm39)	D384G	possibly damaging	Het
Moxd1	T	C	10: 24,120,286 (GRCm39)		probably null	Het
Mtcl3	T	G	10: 29,024,254 (GRCm39)	L390R	probably damaging	Het
Ncapg	T	C	5: 45,828,477 (GRCm39)	V76A	probably benign	Het
Or1e1c	T	C	11: 73,265,578 (GRCm39)	M1T	probably null	Het
Or2a57	A	G	6: 43,212,559 (GRCm39)	T6A	possibly damaging	Het
Pik3c2a	T	A	7: 115,975,485 (GRCm39)	H694L	possibly damaging	Het
Psme2	A	G	14: 55,827,128 (GRCm39)	L60P	probably damaging	Het
Ptpn23	A	G	9: 110,237,175 (GRCm39)	V4A	probably benign	Het
Rgr	G	T	14: 36,766,566 (GRCm39)	T160K	probably damaging	Het
Serpind1	A	G	16: 17,154,787 (GRCm39)	I205V	probably benign	Het
Skap2	T	C	6: 51,898,280 (GRCm39)	Y150C	probably damaging	Het
Srsf9	T	C	5: 115,470,187 (GRCm39)	S122P	probably damaging	Het
Stox1	T	G	10: 62,500,461 (GRCm39)	I700L	probably benign	Het
Tada1	A	G	1: 166,216,294 (GRCm39)	D165G	probably damaging	Het
Traf5	A	G	1: 191,731,828 (GRCm39)	S338P	probably benign	Het
Trim39	G	A	17: 36,574,617 (GRCm39)		probably benign	Het
Wbp2	G	A	11: 115,972,066 (GRCm39)	A130V	possibly damaging	Het
Zcchc17	T	C	4: 130,230,902 (GRCm39)	K96E	probably benign	Het
Zfp800	G	A	6: 28,242,983 (GRCm39)	L661F	possibly damaging	Het

Other mutations in Nos1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Nos1	APN	5	118,048,165 (GRCm39)	missense	probably damaging	0.99
IGL01155:Nos1	APN	5	118,083,991 (GRCm39)	missense	probably damaging	0.99
IGL01464:Nos1	APN	5	118,081,257 (GRCm39)	missense	probably damaging	1.00
IGL01620:Nos1	APN	5	118,043,374 (GRCm39)	critical splice acceptor site	probably null
IGL01621:Nos1	APN	5	118,083,949 (GRCm39)	missense	probably damaging	1.00
IGL01796:Nos1	APN	5	118,076,339 (GRCm39)	nonsense	probably null
IGL02003:Nos1	APN	5	118,043,530 (GRCm39)	missense	probably damaging	1.00
IGL02274:Nos1	APN	5	118,035,845 (GRCm39)	missense	probably damaging	1.00
IGL02885:Nos1	APN	5	118,033,855 (GRCm39)	missense	probably damaging	1.00
IGL02947:Nos1	APN	5	118,081,382 (GRCm39)	missense	probably damaging	0.99
IGL03088:Nos1	APN	5	118,005,323 (GRCm39)	missense	probably damaging	1.00
IGL03166:Nos1	APN	5	118,052,517 (GRCm39)	splice site	probably benign
Crumple	UTSW	5	118,033,925 (GRCm39)	missense	possibly damaging	0.95
penurious	UTSW	5	118,033,967 (GRCm39)	missense	probably damaging	0.97
spendthrift	UTSW	5	118,091,848 (GRCm39)	splice site	probably benign
squanderer	UTSW	5	118,048,303 (GRCm39)	missense	probably damaging	0.97
R0007:Nos1	UTSW	5	118,048,153 (GRCm39)	missense	probably damaging	1.00
R0012:Nos1	UTSW	5	118,031,967 (GRCm39)	missense	probably damaging	1.00
R0080:Nos1	UTSW	5	118,031,943 (GRCm39)	missense	probably damaging	1.00
R0212:Nos1	UTSW	5	118,048,277 (GRCm39)	missense	possibly damaging	0.57
R0240:Nos1	UTSW	5	118,005,948 (GRCm39)	missense	probably benign
R0240:Nos1	UTSW	5	118,005,948 (GRCm39)	missense	probably benign
R0454:Nos1	UTSW	5	118,081,385 (GRCm39)	missense	probably benign	0.00
R0494:Nos1	UTSW	5	118,043,539 (GRCm39)	missense	probably damaging	1.00
R0882:Nos1	UTSW	5	118,085,512 (GRCm39)	missense	probably damaging	1.00
R1099:Nos1	UTSW	5	118,061,460 (GRCm39)	missense	probably damaging	0.96
R1243:Nos1	UTSW	5	118,043,537 (GRCm39)	missense	probably damaging	1.00
R1387:Nos1	UTSW	5	118,091,848 (GRCm39)	splice site	probably benign
R1432:Nos1	UTSW	5	118,087,684 (GRCm39)	splice site	probably benign
R1698:Nos1	UTSW	5	118,005,297 (GRCm39)	missense	probably benign	0.01
R1710:Nos1	UTSW	5	118,033,984 (GRCm39)	missense	probably damaging	1.00
R1859:Nos1	UTSW	5	118,043,527 (GRCm39)	missense	possibly damaging	0.83
R1973:Nos1	UTSW	5	118,074,491 (GRCm39)	missense	possibly damaging	0.52
R2084:Nos1	UTSW	5	118,081,310 (GRCm39)	missense	probably damaging	1.00
R2112:Nos1	UTSW	5	118,074,636 (GRCm39)	missense	probably benign	0.00
R4689:Nos1	UTSW	5	118,017,450 (GRCm39)	missense	probably benign	0.04
R4769:Nos1	UTSW	5	118,081,310 (GRCm39)	nonsense	probably null
R4893:Nos1	UTSW	5	118,090,942 (GRCm39)	missense	possibly damaging	0.50
R4916:Nos1	UTSW	5	118,085,635 (GRCm39)	critical splice donor site	probably null
R4956:Nos1	UTSW	5	118,085,575 (GRCm39)	missense	probably benign
R4971:Nos1	UTSW	5	118,081,899 (GRCm39)	missense	probably benign	0.05
R4987:Nos1	UTSW	5	118,064,598 (GRCm39)	critical splice donor site	probably null
R5015:Nos1	UTSW	5	118,005,334 (GRCm39)	missense	probably damaging	1.00
R5031:Nos1	UTSW	5	118,017,378 (GRCm39)	missense	probably benign
R5137:Nos1	UTSW	5	118,043,378 (GRCm39)	missense	probably benign	0.29
R5481:Nos1	UTSW	5	118,005,819 (GRCm39)	missense	probably benign	0.06
R5541:Nos1	UTSW	5	118,043,459 (GRCm39)	missense	probably damaging	1.00
R5655:Nos1	UTSW	5	118,061,322 (GRCm39)	missense	probably damaging	1.00
R5866:Nos1	UTSW	5	118,033,967 (GRCm39)	missense	probably damaging	0.97
R5934:Nos1	UTSW	5	118,074,510 (GRCm39)	missense	probably damaging	0.99
R6158:Nos1	UTSW	5	118,005,639 (GRCm39)	missense	probably benign	0.05
R6225:Nos1	UTSW	5	118,050,917 (GRCm39)	missense	probably damaging	1.00
R6261:Nos1	UTSW	5	118,074,635 (GRCm39)	missense	probably benign
R6388:Nos1	UTSW	5	118,052,501 (GRCm39)	missense	possibly damaging	0.91
R6987:Nos1	UTSW	5	118,033,850 (GRCm39)	missense	probably benign	0.05
R7104:Nos1	UTSW	5	118,085,496 (GRCm39)	missense	probably damaging	1.00
R7136:Nos1	UTSW	5	118,033,925 (GRCm39)	missense	possibly damaging	0.95
R7276:Nos1	UTSW	5	118,048,303 (GRCm39)	missense	probably damaging	0.97
R7299:Nos1	UTSW	5	118,005,970 (GRCm39)	missense	possibly damaging	0.89
R7301:Nos1	UTSW	5	118,005,970 (GRCm39)	missense	possibly damaging	0.89
R7402:Nos1	UTSW	5	118,087,880 (GRCm39)	missense	probably benign	0.34
R7408:Nos1	UTSW	5	118,005,583 (GRCm39)	missense	probably damaging	1.00
R7618:Nos1	UTSW	5	118,042,009 (GRCm39)	missense	probably benign	0.01
R7689:Nos1	UTSW	5	118,035,792 (GRCm39)	missense	probably damaging	0.98
R7964:Nos1	UTSW	5	118,038,607 (GRCm39)	missense	probably damaging	1.00
R8962:Nos1	UTSW	5	118,017,405 (GRCm39)	missense	probably benign	0.05
R9147:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9148:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9149:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9246:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9248:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9249:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9254:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9255:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9256:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9283:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9320:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9321:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9326:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9327:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9331:Nos1	UTSW	5	118,038,589 (GRCm39)	missense	possibly damaging	0.59
R9379:Nos1	UTSW	5	118,017,402 (GRCm39)	missense	probably benign	0.44
R9432:Nos1	UTSW	5	118,034,871 (GRCm39)	missense	probably damaging	1.00
R9470:Nos1	UTSW	5	118,064,560 (GRCm39)	missense	probably damaging	1.00
R9581:Nos1	UTSW	5	118,043,459 (GRCm39)	missense	probably damaging	1.00
R9623:Nos1	UTSW	5	118,087,849 (GRCm39)	missense	probably benign	0.00
X0025:Nos1	UTSW	5	118,081,890 (GRCm39)	missense	probably benign	0.00
X0026:Nos1	UTSW	5	118,081,217 (GRCm39)	missense	probably damaging	1.00
Z1177:Nos1	UTSW	5	118,061,343 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-11-18