Incidental Mutation 'IGL02056:Nos1ap'
ID |
185226 |
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 # |
IGL02056
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
170143039-170417371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 170146192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 454
(F454S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160456]
|
AlphaFold |
Q9D3A8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160456
AA Change: F454S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125251 Gene: ENSMUSG00000038473 AA Change: F454S
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 |
noncoding transcript
Transcript: ENSMUST00000161221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162709
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg101 |
T |
C |
15: 101,188,218 (GRCm39) |
S108P |
probably damaging |
Het |
BB014433 |
A |
T |
8: 15,092,435 (GRCm39) |
C139* |
probably null |
Het |
Cacna1s |
A |
G |
1: 136,046,738 (GRCm39) |
N1808S |
probably benign |
Het |
Ccdc148 |
A |
G |
2: 58,894,081 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
G |
1: 53,543,501 (GRCm39) |
N2223T |
probably benign |
Het |
Fgl2 |
T |
A |
5: 21,580,543 (GRCm39) |
I295K |
probably damaging |
Het |
Foxj3 |
T |
C |
4: 119,442,954 (GRCm39) |
I126T |
probably damaging |
Het |
Gm4540 |
T |
A |
3: 105,942,056 (GRCm39) |
|
probably benign |
Het |
Hps5 |
T |
G |
7: 46,437,606 (GRCm39) |
K156N |
probably damaging |
Het |
Hsp90aa1 |
T |
C |
12: 110,660,449 (GRCm39) |
|
probably benign |
Het |
Il12rb1 |
C |
T |
8: 71,263,831 (GRCm39) |
R131* |
probably null |
Het |
Itgb2l |
T |
C |
16: 96,228,889 (GRCm39) |
E438G |
probably damaging |
Het |
Kplce |
T |
A |
3: 92,776,200 (GRCm39) |
Q161L |
probably benign |
Het |
Nbeal2 |
A |
T |
9: 110,456,392 (GRCm39) |
L2379Q |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,796,616 (GRCm39) |
V481A |
probably damaging |
Het |
Pik3r5 |
G |
T |
11: 68,381,681 (GRCm39) |
G242C |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,358,010 (GRCm39) |
N834S |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,025,909 (GRCm39) |
|
probably benign |
Het |
Pusl1 |
T |
C |
4: 155,975,029 (GRCm39) |
T191A |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,126,831 (GRCm39) |
V51A |
probably damaging |
Het |
Rsc1a1 |
T |
A |
4: 141,412,796 (GRCm39) |
I39F |
probably benign |
Het |
Slc2a3 |
G |
A |
6: 122,712,437 (GRCm39) |
P269L |
probably damaging |
Het |
Sntb1 |
C |
T |
15: 55,511,435 (GRCm39) |
G383D |
possibly damaging |
Het |
Washc5 |
T |
C |
15: 59,222,185 (GRCm39) |
T547A |
possibly damaging |
Het |
Zfr |
T |
C |
15: 12,154,533 (GRCm39) |
V572A |
probably damaging |
Het |
Zmym6 |
T |
A |
4: 126,997,207 (GRCm39) |
N275K |
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 |
|
IGL01151:Nos1ap
|
APN |
1 |
170,416,845 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |