Incidental Mutation 'IGL01151:Nos1ap'
ID |
50359 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nos1ap
|
Ensembl Gene |
ENSMUSG00000038473 |
Gene Name |
nitric oxide synthase 1 (neuronal) adaptor protein |
Synonyms |
6330408P19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01151
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
170143039-170417371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 170416845 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q9D3A8 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
Het |
|
Other mutations in Nos1ap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Nos1ap
|
APN |
1 |
170,342,175 (GRCm39) |
splice site |
probably benign |
|
IGL02056:Nos1ap
|
APN |
1 |
170,146,192 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02712:Nos1ap
|
APN |
1 |
170,156,820 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03177:Nos1ap
|
APN |
1 |
170,218,299 (GRCm39) |
critical splice donor site |
probably null |
|
R0096:Nos1ap
|
UTSW |
1 |
170,156,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Nos1ap
|
UTSW |
1 |
170,156,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Nos1ap
|
UTSW |
1 |
170,146,150 (GRCm39) |
missense |
probably damaging |
0.99 |
R1332:Nos1ap
|
UTSW |
1 |
170,177,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Nos1ap
|
UTSW |
1 |
170,165,687 (GRCm39) |
missense |
probably benign |
0.03 |
R1660:Nos1ap
|
UTSW |
1 |
170,342,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1704:Nos1ap
|
UTSW |
1 |
170,165,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Nos1ap
|
UTSW |
1 |
170,146,447 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1905:Nos1ap
|
UTSW |
1 |
170,146,127 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2056:Nos1ap
|
UTSW |
1 |
170,155,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Nos1ap
|
UTSW |
1 |
170,156,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R2141:Nos1ap
|
UTSW |
1 |
170,156,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R3890:Nos1ap
|
UTSW |
1 |
170,177,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R3891:Nos1ap
|
UTSW |
1 |
170,177,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R3892:Nos1ap
|
UTSW |
1 |
170,177,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R4109:Nos1ap
|
UTSW |
1 |
170,146,237 (GRCm39) |
missense |
probably benign |
|
R5305:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5306:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5412:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5414:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5444:Nos1ap
|
UTSW |
1 |
170,202,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R5636:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5637:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5638:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5753:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5754:Nos1ap
|
UTSW |
1 |
170,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5787:Nos1ap
|
UTSW |
1 |
170,146,141 (GRCm39) |
missense |
probably benign |
0.41 |
R7060:Nos1ap
|
UTSW |
1 |
170,165,694 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8161:Nos1ap
|
UTSW |
1 |
170,218,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Nos1ap
|
UTSW |
1 |
170,155,194 (GRCm39) |
missense |
unknown |
|
RF009:Nos1ap
|
UTSW |
1 |
170,146,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-06-21 |