Incidental Mutation 'R1704:Nos1ap'
ID |
189943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nos1ap
|
Ensembl Gene |
ENSMUSG00000038473 |
Gene Name |
nitric oxide synthase 1 (neuronal) adaptor protein |
Synonyms |
6330408P19Rik |
MMRRC Submission |
039737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1704 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
170143039-170417371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 170165781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glutamine
at position 161
(E161Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160456]
[ENSMUST00000160466]
[ENSMUST00000161485]
[ENSMUST00000161966]
|
AlphaFold |
Q9D3A8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160456
AA Change: E161Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125251 Gene: ENSMUSG00000038473 AA Change: E161Q
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: E107Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125687 Gene: ENSMUSG00000038473 AA Change: E107Q
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: E112Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124169 Gene: ENSMUSG00000038473 AA Change: E112Q
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: E161Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124240 Gene: ENSMUSG00000038473 AA Change: E161Q
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
C |
T |
3: 37,146,164 (GRCm39) |
H511Y |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,344,524 (GRCm39) |
A341T |
probably benign |
Het |
Apon |
T |
C |
10: 128,090,865 (GRCm39) |
F181S |
probably damaging |
Het |
Avpr1b |
T |
A |
1: 131,537,242 (GRCm39) |
L342Q |
possibly damaging |
Het |
Cacna1c |
A |
T |
6: 118,579,107 (GRCm39) |
H1810Q |
probably benign |
Het |
Camta1 |
T |
C |
4: 151,159,681 (GRCm39) |
Y1593C |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,989,327 (GRCm39) |
S1825T |
probably damaging |
Het |
Cntnap4 |
T |
A |
8: 113,484,155 (GRCm39) |
W403R |
probably damaging |
Het |
Crppa |
A |
G |
12: 36,571,493 (GRCm39) |
E279G |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,116,362 (GRCm39) |
P1753S |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,604,646 (GRCm39) |
Y1038H |
probably damaging |
Het |
Fat1 |
C |
T |
8: 45,478,613 (GRCm39) |
T2553I |
probably damaging |
Het |
Fem1c |
A |
T |
18: 46,639,263 (GRCm39) |
N246K |
probably benign |
Het |
Frmd8 |
T |
A |
19: 5,919,510 (GRCm39) |
Q179L |
probably benign |
Het |
Gbp10 |
A |
G |
5: 105,372,217 (GRCm39) |
F181S |
probably damaging |
Het |
Hfe |
T |
C |
13: 23,888,391 (GRCm39) |
Y265C |
probably damaging |
Het |
Kifap3 |
A |
G |
1: 163,656,765 (GRCm39) |
N362D |
possibly damaging |
Het |
Lima1 |
A |
G |
15: 99,717,617 (GRCm39) |
F130L |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,757,743 (GRCm39) |
V242E |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,354,127 (GRCm39) |
|
probably null |
Het |
Or1q1 |
A |
T |
2: 36,886,896 (GRCm39) |
I25F |
probably benign |
Het |
Or2t43 |
A |
T |
11: 58,457,580 (GRCm39) |
M197K |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,661,576 (GRCm39) |
V611I |
probably benign |
Het |
Pdk2 |
T |
C |
11: 94,919,376 (GRCm39) |
I300V |
possibly damaging |
Het |
Polr2b |
A |
G |
5: 77,490,407 (GRCm39) |
D849G |
possibly damaging |
Het |
Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
Prr14l |
G |
T |
5: 32,987,626 (GRCm39) |
A623D |
probably benign |
Het |
Rab43 |
A |
C |
6: 87,788,363 (GRCm39) |
|
probably null |
Het |
Sart3 |
G |
A |
5: 113,884,068 (GRCm39) |
T648M |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,460 (GRCm39) |
D1803G |
probably damaging |
Het |
Sec11a |
A |
T |
7: 80,584,848 (GRCm39) |
S30T |
possibly damaging |
Het |
Sez6l2 |
G |
A |
7: 126,557,513 (GRCm39) |
G309E |
probably damaging |
Het |
Snx14 |
A |
C |
9: 88,295,591 (GRCm39) |
D191E |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,076,183 (GRCm39) |
N777K |
possibly damaging |
Het |
Susd4 |
A |
G |
1: 182,681,678 (GRCm39) |
N173S |
probably damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tgfbrap1 |
G |
T |
1: 43,093,816 (GRCm39) |
Q559K |
probably benign |
Het |
Tmco1 |
T |
C |
1: 167,153,506 (GRCm39) |
S129P |
possibly damaging |
Het |
Tmprss11a |
T |
C |
5: 86,576,561 (GRCm39) |
T97A |
probably benign |
Het |
Tnni3k |
G |
A |
3: 154,533,145 (GRCm39) |
A774V |
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,470,785 (GRCm39) |
S925P |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,553,993 (GRCm39) |
V3494A |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,994,266 (GRCm39) |
D461G |
probably damaging |
Het |
Zan |
A |
T |
5: 137,432,264 (GRCm39) |
C2344* |
probably null |
Het |
Zfp629 |
A |
G |
7: 127,210,036 (GRCm39) |
I591T |
probably benign |
Het |
Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
Zmym1 |
A |
T |
4: 126,942,177 (GRCm39) |
I737N |
probably damaging |
Het |
Zranb3 |
T |
C |
1: 128,019,740 (GRCm39) |
M1V |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTACCATGATGTCGCCTTTGC -3'
(R):5'- TCTGGCTGCCTGGATTTCTGATCAC -3'
Sequencing Primer
(F):5'- cgtgcaggaagctgagg -3'
(R):5'- GGATTTCTGATCACCTTGCG -3'
|
Posted On |
2014-05-14 |