Incidental Mutation 'IGL03166:Nos1'
ID411656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nos1
Ensembl Gene ENSMUSG00000029361
Gene Namenitric oxide synthase 1, neuronal
SynonymsbNOS, nNOS, 2310005C01Rik, Nos-1, NO
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03166
Quality Score
Status
Chromosome5
Chromosomal Location117781032-117958840 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 117914452 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
Predicted Effect probably benign
Transcript: ENSMUST00000086451
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361

DomainStartEndE-ValueType
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: ENSMUST00000138554
Predicted Effect probably benign
Transcript: ENSMUST00000142742
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110079O15Rik A C 1: 87,475,211 probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Ankfn1 G T 11: 89,538,438 A40D probably benign Het
Arhgap20 T A 9: 51,849,777 I940K possibly damaging Het
Arhgap24 T C 5: 102,875,686 probably benign Het
Bdp1 T C 13: 100,035,800 T2103A probably benign Het
Cep350 A G 1: 155,863,600 S2166P possibly damaging Het
Dlg2 T C 7: 91,900,730 probably benign Het
Fam160b2 A T 14: 70,590,176 C160S probably damaging Het
Fyco1 A T 9: 123,828,387 L908H probably benign Het
Gprc5b C A 7: 118,983,999 A216S probably benign Het
Lamc1 A G 1: 153,332,301 V80A probably benign Het
Lilra6 T C 7: 3,912,627 I370V possibly damaging Het
Lim2 T A 7: 43,430,623 C11* probably null Het
Lrp1b T A 2: 41,111,038 H2058L probably damaging Het
Lrp3 G T 7: 35,202,480 L659I probably benign Het
Lrrc8a T G 2: 30,255,365 S64A probably benign Het
Lsr C T 7: 30,962,097 probably null Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Man2c1 T A 9: 57,139,098 V479E probably damaging Het
Mtf2 T A 5: 108,106,720 D462E probably benign Het
Mx2 T C 16: 97,546,790 I205T probably damaging Het
Olfr78 T C 7: 102,742,047 N319D probably benign Het
Optc C T 1: 133,903,792 probably benign Het
Orm1 C A 4: 63,344,594 probably benign Het
Pdzd8 T C 19: 59,300,508 E820G probably damaging Het
Pkp1 A T 1: 135,878,124 M612K probably damaging Het
Pno1 T A 11: 17,204,513 probably null Het
Rbm34 T C 8: 126,970,856 Q35R probably damaging Het
Ryr3 A T 2: 112,641,112 Y4564* probably null Het
Slc34a3 T C 2: 25,232,174 I140V probably damaging Het
Slc43a1 T C 2: 84,857,356 I419T possibly damaging Het
Sltm C A 9: 70,542,969 A17E possibly damaging Het
Smpdl3b T C 4: 132,741,531 D125G probably benign Het
Supt3 G T 17: 44,923,219 A48S probably damaging Het
Tlr3 A G 8: 45,402,928 F72L probably benign Het
Trim36 T C 18: 46,212,321 E15G probably benign Het
Tubb4b-ps1 A T 5: 7,179,965 probably benign Het
Vmn2r68 T C 7: 85,222,123 T651A probably benign Het
Wdr76 G T 2: 121,534,306 V462F possibly damaging Het
Wnk2 C A 13: 49,071,044 G1112* probably null Het
Zfp868 A C 8: 69,612,314 C123W probably damaging Het
Zyg11b T A 4: 108,265,889 M294L probably benign Het
Other mutations in Nos1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Nos1 APN 5 117910100 missense probably damaging 0.99
IGL01155:Nos1 APN 5 117945926 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
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
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 not run
Posted On2016-08-02