Incidental Mutation 'R6580:Nol9'
| ID |
524068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol9
|
| Ensembl Gene |
ENSMUSG00000028948 |
| Gene Name |
nucleolar protein 9 |
| Synonyms |
6030462G04Rik, 4632412I24Rik |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152123778-152145951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152136218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 430
(N430S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084116]
[ENSMUST00000103197]
|
| AlphaFold |
Q3TZX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084116
AA Change: N430S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: N430S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:CLP1_P
|
322 |
480 |
7.5e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103197
AA Change: N430S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: N430S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
316 |
429 |
5.9e-18 |
PFAM |
|
Pfam:Clp1
|
425 |
665 |
1.9e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105663
|
| SMART Domains |
Protein: ENSMUSP00000101288
Gene: ENSMUSG00000028948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
316 |
429 |
5.3e-18 |
PFAM |
|
Pfam:Clp1
|
425 |
627 |
5.8e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147797
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Nol9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Nol9
|
APN |
4 |
152,136,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00774:Nol9
|
APN |
4 |
152,136,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00885:Nol9
|
APN |
4 |
152,126,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01125:Nol9
|
APN |
4 |
152,131,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01368:Nol9
|
APN |
4 |
152,142,848 (GRCm39) |
missense |
probably benign |
|
|
IGL01759:Nol9
|
APN |
4 |
152,130,500 (GRCm39) |
intron |
probably benign |
|
|
IGL01983:Nol9
|
APN |
4 |
152,130,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02185:Nol9
|
APN |
4 |
152,142,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Nol9
|
APN |
4 |
152,131,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Nol9
|
APN |
4 |
152,125,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0401:Nol9
|
UTSW |
4 |
152,137,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3721:Nol9
|
UTSW |
4 |
152,124,163 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4429:Nol9
|
UTSW |
4 |
152,125,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4460:Nol9
|
UTSW |
4 |
152,142,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Nol9
|
UTSW |
4 |
152,136,552 (GRCm39) |
intron |
probably benign |
|
|
R5137:Nol9
|
UTSW |
4 |
152,130,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Nol9
|
UTSW |
4 |
152,135,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6190:Nol9
|
UTSW |
4 |
152,125,691 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6317:Nol9
|
UTSW |
4 |
152,125,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Nol9
|
UTSW |
4 |
152,130,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Nol9
|
UTSW |
4 |
152,123,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6551:Nol9
|
UTSW |
4 |
152,136,325 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7538:Nol9
|
UTSW |
4 |
152,124,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8143:Nol9
|
UTSW |
4 |
152,125,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9018:Nol9
|
UTSW |
4 |
152,123,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9428:Nol9
|
UTSW |
4 |
152,124,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9578:Nol9
|
UTSW |
4 |
152,125,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGCCTGGCTCTTGTTG -3'
(R):5'- AAGACTGGAAGTGGACTAGACTCTTTC -3'
Sequencing Primer
(F):5'- TGTCAGCTGTGCATATGC -3'
(R):5'- GGAAGTGGACTAGACTCTTTCTCTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation