Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:Nos1'

155366

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 #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

118004904-118096905 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 118076339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1120 (K1120*)

Ref Sequence

ENSEMBL: ENSMUSP00000127432 (fasta)

Gene Model

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

AlphaFold

Q9Z0J4

Predicted Effect

probably null
Transcript: ENSMUST00000086451
AA Change: K1120*

SMART Domains

Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: K1120*

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 null
Transcript: ENSMUST00000102557
AA Change: K1154*

SMART Domains

Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: K1154*

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 null
Transcript: ENSMUST00000142742
AA Change: K1120*

SMART Domains

Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: K1120*

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 null
Transcript: ENSMUST00000171055
AA Change: K1120*

SMART Domains

Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: K1120*

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

noncoding transcript
Transcript: ENSMUST00000182216

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,590,273 (GRCm39)	Y511H	probably damaging	Het
Abca7	T	G	10: 79,849,743 (GRCm39)	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,564,611 (GRCm39)	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,715,461 (GRCm39)	D909V	probably benign	Het
Anapc16	T	C	10: 59,824,579 (GRCm39)	E119G	possibly damaging	Het
C1qtnf12	T	C	4: 156,050,886 (GRCm39)	V285A	possibly damaging	Het
Cbr1	A	C	16: 93,405,119 (GRCm39)	N89T	probably damaging	Het
Cdh23	T	A	10: 60,146,916 (GRCm39)	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,595,340 (GRCm39)		noncoding transcript	Het
Cst9	T	C	2: 148,677,269 (GRCm39)	F47L	probably damaging	Het
Dqx1	T	C	6: 83,043,408 (GRCm39)		probably benign	Het
Dus4l	T	C	12: 31,692,794 (GRCm39)	S150G	probably benign	Het
E2f2	A	T	4: 135,907,728 (GRCm39)	K142*	probably null	Het
Eif2ak4	T	A	2: 118,276,785 (GRCm39)	H169Q	probably benign	Het
Fmo9	C	T	1: 166,490,904 (GRCm39)	A525T	probably benign	Het
Gm42878	T	C	5: 121,683,247 (GRCm39)	D6G	probably benign	Het
Igfals	A	G	17: 25,099,056 (GRCm39)	Y49C	probably damaging	Het
Il22b	T	C	10: 118,126,069 (GRCm39)	N176S	possibly damaging	Het
Ipo7	T	C	7: 109,629,055 (GRCm39)		probably benign	Het
Itga1	T	C	13: 115,121,657 (GRCm39)	E784G	probably damaging	Het
Jcad	G	T	18: 4,672,855 (GRCm39)	E206*	probably null	Het
Kif24	A	T	4: 41,392,978 (GRCm39)		probably benign	Het
Lrrc2	T	A	9: 110,809,886 (GRCm39)		probably null	Het
Ltbp1	A	G	17: 75,534,240 (GRCm39)		probably benign	Het
Man2c1	C	T	9: 57,045,244 (GRCm39)	T451I	possibly damaging	Het
Manba	T	A	3: 135,248,150 (GRCm39)	N346K	probably damaging	Het
Nell1	T	C	7: 49,825,964 (GRCm39)		probably benign	Het
Nfat5	T	C	8: 108,094,273 (GRCm39)	V744A	probably damaging	Het
Nms	T	C	1: 38,985,192 (GRCm39)	M98T	possibly damaging	Het
Or11g25	C	A	14: 50,722,998 (GRCm39)	Q28K	probably benign	Het
Plekho1	C	T	3: 95,898,147 (GRCm39)	R172H	probably damaging	Het
Pot1b	A	T	17: 55,976,750 (GRCm39)	C391S	possibly damaging	Het
Scn1a	G	A	2: 66,162,645 (GRCm39)		probably benign	Het
Sgce	T	G	6: 4,711,326 (GRCm39)	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,728,426 (GRCm39)	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,147,404 (GRCm39)		probably benign	Het
Tmem131l	T	A	3: 83,845,362 (GRCm39)	K423*	probably null	Het
Tnrc18	C	T	5: 142,750,642 (GRCm39)	E1444K	possibly damaging	Het
Tpp1	T	C	7: 105,396,857 (GRCm39)		probably benign	Het
Trip12	A	C	1: 84,705,999 (GRCm39)	S610R	probably benign	Het
Ushbp1	G	T	8: 71,840,076 (GRCm39)	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,488,314 (GRCm39)	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,915,585 (GRCm39)	I455T	probably benign	Het
Zbtb41	T	C	1: 139,370,621 (GRCm39)	F686S	probably 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
IGL01462:Nos1	APN	5	118,005,774 (GRCm39)	missense	probably benign	0.10
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
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

2014-02-04