Incidental Mutation 'R0096:Nos1ap'
| ID |
17323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nos1ap
|
| Ensembl Gene |
ENSMUSG00000038473 |
| Gene Name |
nitric oxide synthase 1 (neuronal) adaptor protein |
| Synonyms |
6330408P19Rik |
| MMRRC Submission |
038382-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0096 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170143039-170417371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 170156816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 214
(D214G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160456]
[ENSMUST00000160466]
[ENSMUST00000161485]
[ENSMUST00000161966]
|
| AlphaFold |
Q9D3A8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160456
AA Change: D214G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: D214G
| 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: ENSMUST00000160466
AA Change: D160G
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125687
Gene: ENSMUSG00000038473
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
1 |
116 |
4e-25 |
PFAM |
|
low complexity region
|
212 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161485
AA Change: D165G
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124169
Gene: ENSMUSG00000038473
AA Change: D165G
| 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: D214G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124240
Gene: ENSMUSG00000038473
AA Change: D214G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162090
|
| Meta Mutation Damage Score |
0.0759 |
| Coding Region Coverage |
- 1x: 90.0%
- 3x: 87.5%
- 10x: 81.4%
- 20x: 72.0%
|
| Validation Efficiency |
89% (76/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,092,889 (GRCm39) |
|
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,180,952 (GRCm39) |
T256A |
possibly damaging |
Het |
| Cpne8 |
T |
A |
15: 90,384,118 (GRCm39) |
I481L |
probably benign |
Het |
| Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
| Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
| Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,758,928 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
| Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 23,054,915 (GRCm39) |
T58P |
possibly damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,674,783 (GRCm39) |
D44E |
probably damaging |
Het |
| Pip4k2a |
G |
A |
2: 18,893,850 (GRCm39) |
|
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,709,590 (GRCm39) |
|
probably benign |
Het |
| Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,290 (GRCm39) |
D643G |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
| Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
| Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
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 |
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation