Incidental Mutation 'R0370:Nol8'
| ID |
30442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol8
|
| Ensembl Gene |
ENSMUSG00000021392 |
| Gene Name |
nucleolar protein 8 |
| Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
| MMRRC Submission |
038576-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49815923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 677
(A677V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021824]
[ENSMUST00000221083]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000222333]
[ENSMUST00000223467]
|
| AlphaFold |
Q3UHX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021824
AA Change: A677V
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: A677V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
27 |
103 |
3.02e-9 |
SMART |
|
low complexity region
|
315 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
849 |
N/A |
INTRINSIC |
|
coiled coil region
|
886 |
916 |
N/A |
INTRINSIC |
|
coiled coil region
|
955 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
1080 |
1093 |
N/A |
INTRINSIC |
|
low complexity region
|
1152 |
1164 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221142
AA Change: A659V
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222197
AA Change: A677V
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
AA Change: A659V
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
| Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
| Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
| Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
| Dtl |
G |
T |
1: 191,307,462 (GRCm39) |
N17K |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
| Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
| Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
| Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
| Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
| Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
| Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
| Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
| Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
| Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
| Pkn3 |
T |
A |
2: 29,977,184 (GRCm39) |
H641Q |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,106,308 (GRCm39) |
E175G |
probably benign |
Het |
| Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
| Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,388,006 (GRCm39) |
E160G |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,339,644 (GRCm39) |
N100Y |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
| Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
probably benign |
Het |
|
| Other mutations in Nol8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Nol8
|
APN |
13 |
49,815,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01106:Nol8
|
APN |
13 |
49,807,957 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01413:Nol8
|
APN |
13 |
49,813,428 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01540:Nol8
|
APN |
13 |
49,815,146 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01670:Nol8
|
APN |
13 |
49,814,784 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01672:Nol8
|
APN |
13 |
49,828,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02032:Nol8
|
APN |
13 |
49,826,248 (GRCm39) |
missense |
probably benign |
|
|
IGL02212:Nol8
|
APN |
13 |
49,815,626 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02323:Nol8
|
APN |
13 |
49,808,721 (GRCm39) |
splice site |
probably benign |
|
|
IGL02645:Nol8
|
APN |
13 |
49,818,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02949:Nol8
|
APN |
13 |
49,815,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02954:Nol8
|
APN |
13 |
49,814,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03182:Nol8
|
APN |
13 |
49,817,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03406:Nol8
|
APN |
13 |
49,815,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0047:Nol8
|
UTSW |
13 |
49,807,824 (GRCm39) |
splice site |
probably null |
|
|
R0092:Nol8
|
UTSW |
13 |
49,815,923 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0099:Nol8
|
UTSW |
13 |
49,826,165 (GRCm39) |
missense |
probably benign |
|
|
R0145:Nol8
|
UTSW |
13 |
49,815,923 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0269:Nol8
|
UTSW |
13 |
49,807,921 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0374:Nol8
|
UTSW |
13 |
49,815,923 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0390:Nol8
|
UTSW |
13 |
49,815,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Nol8
|
UTSW |
13 |
49,807,921 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0635:Nol8
|
UTSW |
13 |
49,830,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0637:Nol8
|
UTSW |
13 |
49,815,923 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1246:Nol8
|
UTSW |
13 |
49,830,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Nol8
|
UTSW |
13 |
49,808,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Nol8
|
UTSW |
13 |
49,830,264 (GRCm39) |
missense |
probably benign |
|
|
R1464:Nol8
|
UTSW |
13 |
49,830,264 (GRCm39) |
missense |
probably benign |
|
|
R1627:Nol8
|
UTSW |
13 |
49,814,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1703:Nol8
|
UTSW |
13 |
49,820,933 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1751:Nol8
|
UTSW |
13 |
49,820,884 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2187:Nol8
|
UTSW |
13 |
49,815,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2357:Nol8
|
UTSW |
13 |
49,807,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3081:Nol8
|
UTSW |
13 |
49,831,868 (GRCm39) |
unclassified |
probably benign |
|
|
R3969:Nol8
|
UTSW |
13 |
49,813,492 (GRCm39) |
nonsense |
probably null |
|
|
R4199:Nol8
|
UTSW |
13 |
49,815,224 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4720:Nol8
|
UTSW |
13 |
49,816,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Nol8
|
UTSW |
13 |
49,807,901 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5177:Nol8
|
UTSW |
13 |
49,814,588 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5512:Nol8
|
UTSW |
13 |
49,830,263 (GRCm39) |
missense |
probably benign |
|
|
R5744:Nol8
|
UTSW |
13 |
49,815,802 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5988:Nol8
|
UTSW |
13 |
49,826,090 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6048:Nol8
|
UTSW |
13 |
49,807,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6306:Nol8
|
UTSW |
13 |
49,829,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Nol8
|
UTSW |
13 |
49,817,546 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6378:Nol8
|
UTSW |
13 |
49,820,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6655:Nol8
|
UTSW |
13 |
49,807,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Nol8
|
UTSW |
13 |
49,814,678 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7058:Nol8
|
UTSW |
13 |
49,829,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Nol8
|
UTSW |
13 |
49,814,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7450:Nol8
|
UTSW |
13 |
49,813,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7673:Nol8
|
UTSW |
13 |
49,818,256 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7750:Nol8
|
UTSW |
13 |
49,815,742 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8246:Nol8
|
UTSW |
13 |
49,808,724 (GRCm39) |
splice site |
probably benign |
|
|
R9081:Nol8
|
UTSW |
13 |
49,814,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9127:Nol8
|
UTSW |
13 |
49,815,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9223:Nol8
|
UTSW |
13 |
49,814,738 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
X0020:Nol8
|
UTSW |
13 |
49,814,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCATGCCAACCTGCAAAGAAGG -3'
(R):5'- ATTTGCCAGGGCACTATGCACC -3'
Sequencing Primer
(F):5'- AAGGTGAATGACCCGAACC -3'
(R):5'- TCTGCCATGCTGCCAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation