Incidental Mutation 'R5636:Nos1ap'
| ID |
440348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nos1ap
|
| Ensembl Gene |
ENSMUSG00000038473 |
| Gene Name |
nitric oxide synthase 1 (neuronal) adaptor protein |
| Synonyms |
6330408P19Rik |
| MMRRC Submission |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
170143039-170417371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 170176968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 145
(K145M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160456]
[ENSMUST00000160466]
[ENSMUST00000161485]
[ENSMUST00000161966]
|
| AlphaFold |
Q9D3A8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160456
AA Change: K145M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: K145M
| 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 damaging
Transcript: ENSMUST00000160466
AA Change: K91M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125687
Gene: ENSMUSG00000038473
AA Change: K91M
| 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: ENSMUST00000160816
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161485
AA Change: K96M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124169
Gene: ENSMUSG00000038473
AA Change: K96M
| 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: K145M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124240
Gene: ENSMUSG00000038473
AA Change: K145M
| 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 |
|
| Meta Mutation Damage Score |
0.7375 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,922,382 (GRCm39) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,192,362 (GRCm39) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,649,041 (GRCm39) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,699,370 (GRCm39) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,257,375 (GRCm39) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,120 (GRCm39) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 74,945,215 (GRCm39) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,445,562 (GRCm39) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,743,582 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,365,786 (GRCm39) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,913,648 (GRCm39) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,064,472 (GRCm39) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,181,601 (GRCm39) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,426,750 (GRCm39) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 18,002,749 (GRCm39) |
R41C |
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,372,665 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,173,307 (GRCm39) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,644,089 (GRCm39) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,787,031 (GRCm39) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,619,939 (GRCm39) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,024,738 (GRCm39) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,316,932 (GRCm39) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,108,584 (GRCm39) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,914,816 (GRCm39) |
D644G |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm39) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,439 (GRCm39) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,218 (GRCm39) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,836,687 (GRCm39) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,552,676 (GRCm39) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,273,926 (GRCm39) |
L1010Q |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,637 (GRCm39) |
K755* |
probably null |
Het |
| Or2av9 |
T |
C |
11: 58,380,877 (GRCm39) |
K235E |
probably damaging |
Het |
| Or9i2 |
C |
T |
19: 13,815,701 (GRCm39) |
V279M |
possibly damaging |
Het |
| Pik3ca |
G |
A |
3: 32,515,709 (GRCm39) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,193,649 (GRCm39) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 108,638,027 (GRCm39) |
T242I |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,327,731 (GRCm39) |
Q1906P |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,455 (GRCm39) |
R1814K |
probably benign |
Het |
| Rufy2 |
T |
A |
10: 62,833,733 (GRCm39) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,209,662 (GRCm39) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,202,744 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,036,352 (GRCm39) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,530,860 (GRCm39) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,467,829 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,887,885 (GRCm39) |
|
probably benign |
Het |
| Stam |
G |
T |
2: 14,122,238 (GRCm39) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 156,927,794 (GRCm39) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm39) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,527,254 (GRCm39) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,984,240 (GRCm39) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,637 (GRCm39) |
H605R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGACTAAGCACACAGTTCAG -3'
(R):5'- AGTGAGCTCTGTCTTCTGCC -3'
Sequencing Primer
(F):5'- TGGACTAAGCACACAGTTCAGATGAC -3'
(R):5'- CTCCCGTGAGCAGAGGTTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation