Incidental Mutation 'IGL01621:Nos1'
ID 92610
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 # IGL01621
Quality Score
Status
Chromosome 5
Chromosomal Location 118004904-118096905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118083949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1253 (I1253N)
Ref Sequence ENSEMBL: ENSMUSP00000127432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086451] [ENSMUST00000102557] [ENSMUST00000142742] [ENSMUST00000171055]
AlphaFold Q9Z0J4
Predicted Effect probably damaging
Transcript: ENSMUST00000086451
AA Change: I1253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138506
Gene: ENSMUSG00000029361
AA Change: I1253N

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 damaging
Transcript: ENSMUST00000102557
AA Change: I1287N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099617
Gene: ENSMUSG00000029361
AA Change: I1287N

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 probably damaging
Transcript: ENSMUST00000142742
AA Change: I1253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120421
Gene: ENSMUSG00000029361
AA Change: I1253N

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 damaging
Transcript: ENSMUST00000171055
AA Change: I1253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127432
Gene: ENSMUSG00000029361
AA Change: I1253N

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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Nos1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-12-09