Incidental Mutation 'IGL01151:Nos1ap'
ID50359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nos1ap
Ensembl Gene ENSMUSG00000038473
Gene Namenitric oxide synthase 1 (neuronal) adaptor protein
Synonyms6330408P19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01151
Quality Score
Status
Chromosome1
Chromosomal Location170302668-170589861 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 170589276 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 30 (I30N)
Ref Sequence ENSEMBL: ENSMUSP00000125251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160456] [ENSMUST00000161485] [ENSMUST00000161966]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159665
Predicted Effect probably damaging
Transcript: ENSMUST00000160456
AA Change: I30N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: I30N

DomainStartEndE-ValueType
PTB 27 173 3.59e-42 SMART
low complexity region 266 313 N/A INTRINSIC
low complexity region 316 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161485
SMART Domains Protein: ENSMUSP00000124169
Gene: ENSMUSG00000038473

DomainStartEndE-ValueType
Pfam:PID 1 121 3e-26 PFAM
low complexity region 213 228 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161966
AA Change: I30N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124240
Gene: ENSMUSG00000038473
AA Change: I30N

DomainStartEndE-ValueType
PTB 27 173 3.59e-42 SMART
low complexity region 266 285 N/A INTRINSIC
low complexity region 290 322 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,405,399 Q5452R probably benign Het
Ankrd42 A G 7: 92,605,200 probably benign Het
Camk2g T C 14: 20,765,959 D157G probably damaging Het
Cd55b A T 1: 130,422,906 V18E possibly damaging Het
Ep300 T A 15: 81,623,472 probably benign Het
Fbxw26 A G 9: 109,721,780 V393A possibly damaging Het
Fkbp4 T C 6: 128,435,791 T59A probably benign Het
Gbp5 T C 3: 142,500,594 L13P probably damaging Het
Gpr161 G T 1: 165,321,509 L482F probably damaging Het
Il6st T A 13: 112,493,651 S344T probably benign Het
Itpr3 T G 17: 27,091,529 F429V probably damaging Het
Kbtbd11 G T 8: 15,029,176 D592Y probably damaging Het
Magi3 C A 3: 104,051,374 G465V probably damaging Het
Naip6 T A 13: 100,299,093 Y974F probably benign Het
Nek1 A G 8: 61,020,077 Y169C probably damaging Het
Obox5 T C 7: 15,758,591 I157T possibly damaging Het
Olfr1130 A T 2: 87,607,979 D197V probably damaging Het
Pcdhb10 T A 18: 37,412,195 I108N probably damaging Het
Pgf A G 12: 85,171,736 L80P probably damaging Het
Rpgrip1l A G 8: 91,275,149 L459P probably damaging Het
Slc9a1 A T 4: 133,411,989 I173F probably damaging Het
Taf15 T C 11: 83,487,371 S146P possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Thumpd1 C T 7: 119,718,195 R161Q probably damaging Het
Tjp2 A G 19: 24,138,810 I5T possibly damaging Het
Umod A G 7: 119,477,219 V108A possibly damaging Het
Usp38 A T 8: 81,013,840 S199R probably damaging Het
Vmn2r73 T A 7: 85,857,878 Y742F probably damaging Het
Other mutations in Nos1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Nos1ap APN 1 170514606 splice site probably benign
IGL02056:Nos1ap APN 1 170318623 missense possibly damaging 0.93
IGL02712:Nos1ap APN 1 170329251 missense possibly damaging 0.93
IGL03177:Nos1ap APN 1 170390730 critical splice donor site probably null
R0096:Nos1ap UTSW 1 170329247 missense probably damaging 1.00
R0096:Nos1ap UTSW 1 170329247 missense probably damaging 1.00
R0621:Nos1ap UTSW 1 170318581 missense probably damaging 0.99
R1332:Nos1ap UTSW 1 170349432 missense probably damaging 1.00
R1523:Nos1ap UTSW 1 170338118 missense probably benign 0.03
R1660:Nos1ap UTSW 1 170514637 missense possibly damaging 0.89
R1704:Nos1ap UTSW 1 170338212 missense probably damaging 1.00
R1764:Nos1ap UTSW 1 170318878 missense possibly damaging 0.83
R1905:Nos1ap UTSW 1 170318558 missense possibly damaging 0.70
R2056:Nos1ap UTSW 1 170327646 missense probably damaging 1.00
R2140:Nos1ap UTSW 1 170329166 missense probably damaging 0.97
R2141:Nos1ap UTSW 1 170329166 missense probably damaging 0.97
R3890:Nos1ap UTSW 1 170349456 missense probably damaging 1.00
R3891:Nos1ap UTSW 1 170349456 missense probably damaging 1.00
R3892:Nos1ap UTSW 1 170349456 missense probably damaging 1.00
R4109:Nos1ap UTSW 1 170318668 missense probably benign
R5305:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5306:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5412:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5414:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5444:Nos1ap UTSW 1 170375251 missense probably damaging 1.00
R5636:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5637:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5638:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5753:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5754:Nos1ap UTSW 1 170349399 missense probably damaging 1.00
R5787:Nos1ap UTSW 1 170318572 missense probably benign 0.41
R7060:Nos1ap UTSW 1 170338125 missense possibly damaging 0.87
Posted On2013-06-21