Incidental Mutation 'R4460:Nol9'
| ID |
330096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol9
|
| Ensembl Gene |
ENSMUSG00000028948 |
| Gene Name |
nucleolar protein 9 |
| Synonyms |
6030462G04Rik, 4632412I24Rik |
| MMRRC Submission |
041719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152123778-152145951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 152142293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 641
(L641R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084116]
[ENSMUST00000103197]
|
| AlphaFold |
Q3TZX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084116
AA Change: L641R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: L641R
| 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 damaging
Transcript: ENSMUST00000103197
AA Change: L641R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: L641R
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
A |
G |
5: 107,651,631 (GRCm39) |
T687A |
possibly damaging |
Het |
| C030048H21Rik |
A |
G |
2: 26,145,875 (GRCm39) |
|
probably null |
Het |
| Cav1 |
A |
G |
6: 17,306,471 (GRCm39) |
D8G |
probably damaging |
Het |
| Celf6 |
G |
A |
9: 59,510,327 (GRCm39) |
R103H |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,646,101 (GRCm39) |
I698V |
probably benign |
Het |
| Cts6 |
G |
C |
13: 61,343,272 (GRCm39) |
I316M |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,058,262 (GRCm39) |
R1496L |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,411,519 (GRCm39) |
Y1786H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,281 (GRCm39) |
T1268I |
probably benign |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,586,094 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mmp9 |
G |
T |
2: 164,790,958 (GRCm39) |
K115N |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,663,645 (GRCm39) |
D339E |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Mx1 |
G |
T |
16: 97,255,281 (GRCm39) |
S113R |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,077,523 (GRCm39) |
H698L |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,280,533 (GRCm39) |
D463V |
probably damaging |
Het |
| Ptcd1 |
G |
T |
5: 145,096,316 (GRCm39) |
A259E |
probably benign |
Het |
| Ptov1 |
T |
C |
7: 44,515,000 (GRCm39) |
M204V |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,764 (GRCm39) |
S210P |
probably benign |
Het |
| Rgmb |
C |
A |
17: 16,027,888 (GRCm39) |
R277L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,309,516 (GRCm39) |
E22G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tmem143 |
C |
T |
7: 45,556,376 (GRCm39) |
T97I |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,644,991 (GRCm39) |
F12955V |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,255,971 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,852 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,038,281 (GRCm39) |
P580S |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
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 |
|
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 |
|
R6580:Nol9
|
UTSW |
4 |
152,136,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCTGGCCTCAAACTCAGAAATC -3'
(R):5'- TCTTCCAAGGACCCATTGC -3'
Sequencing Primer
(F):5'- AAGGTGTGTGCTACTACACC -3'
(R):5'- AAGGACCCATTGCCTTGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation