Incidental Mutation 'IGL02954:Nol8'
ID |
365040 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nol8
|
Ensembl Gene |
ENSMUSG00000021392 |
Gene Name |
nucleolar protein 8 |
Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02954
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49814648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 234
(V234A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021824]
[ENSMUST00000221083]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000222333]
[ENSMUST00000223264]
[ENSMUST00000223467]
|
AlphaFold |
Q3UHX0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021824
AA Change: V252A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000021824 Gene: ENSMUSG00000021392 AA Change: V252A
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: V234A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222197
AA Change: V252A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223264
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
AA Change: V234A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
T |
5: 8,782,341 (GRCm39) |
R908L |
probably benign |
Het |
Abcc9 |
T |
C |
6: 142,592,007 (GRCm39) |
N774S |
probably damaging |
Het |
Alpk2 |
C |
T |
18: 65,439,207 (GRCm39) |
V729I |
probably benign |
Het |
Atf3 |
T |
C |
1: 190,903,852 (GRCm39) |
N125D |
probably damaging |
Het |
Bcat1 |
C |
T |
6: 144,964,945 (GRCm39) |
G215D |
probably damaging |
Het |
Bptf |
G |
T |
11: 106,945,575 (GRCm39) |
Q2555K |
possibly damaging |
Het |
Cthrc1 |
A |
G |
15: 38,940,389 (GRCm39) |
|
probably benign |
Het |
Cyp2c38 |
A |
G |
19: 39,379,520 (GRCm39) |
M443T |
probably damaging |
Het |
D6Wsu163e |
C |
T |
6: 126,951,441 (GRCm39) |
|
probably benign |
Het |
Dgkg |
T |
A |
16: 22,441,003 (GRCm39) |
E3D |
probably benign |
Het |
Dnah8 |
G |
T |
17: 30,923,809 (GRCm39) |
R1259L |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,009,793 (GRCm39) |
L698P |
probably damaging |
Het |
Ebag9 |
A |
C |
15: 44,493,601 (GRCm39) |
H141P |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,563,526 (GRCm39) |
R840G |
probably benign |
Het |
Faap100 |
A |
T |
11: 120,262,957 (GRCm39) |
H800Q |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,437,301 (GRCm39) |
I266N |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,239,302 (GRCm39) |
|
probably benign |
Het |
Gm17334 |
A |
G |
11: 53,663,654 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
G |
T |
3: 93,680,358 (GRCm39) |
W10L |
probably benign |
Het |
Gng13 |
T |
C |
17: 25,937,726 (GRCm39) |
Y18H |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,990,838 (GRCm39) |
S2113P |
probably damaging |
Het |
Ift81 |
A |
T |
5: 122,748,248 (GRCm39) |
|
probably benign |
Het |
Irak3 |
A |
C |
10: 120,012,147 (GRCm39) |
L206V |
probably damaging |
Het |
Kcng4 |
C |
T |
8: 120,359,792 (GRCm39) |
A195T |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Nars2 |
T |
G |
7: 96,689,100 (GRCm39) |
|
probably null |
Het |
Or12j4 |
A |
T |
7: 140,046,353 (GRCm39) |
K80* |
probably null |
Het |
Or1o4 |
T |
A |
17: 37,591,195 (GRCm39) |
N39Y |
probably damaging |
Het |
Patz1 |
A |
G |
11: 3,241,761 (GRCm39) |
Y383C |
probably damaging |
Het |
Pdcd5 |
T |
C |
7: 35,343,089 (GRCm39) |
Y152C |
probably damaging |
Het |
Phkg1 |
A |
G |
5: 129,894,910 (GRCm39) |
W214R |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,301,649 (GRCm39) |
L1459P |
probably damaging |
Het |
Pspc1 |
G |
A |
14: 57,009,217 (GRCm39) |
P206S |
probably benign |
Het |
St7 |
A |
T |
6: 17,848,030 (GRCm39) |
N198I |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,349,015 (GRCm39) |
D249G |
probably damaging |
Het |
Taf1c |
T |
C |
8: 120,327,225 (GRCm39) |
Y418C |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,938,153 (GRCm39) |
V965A |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,159,180 (GRCm39) |
N458S |
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,315 (GRCm39) |
Y122C |
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 |
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 |
R0370:Nol8
|
UTSW |
13 |
49,815,923 (GRCm39) |
missense |
possibly damaging |
0.54 |
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 |
|
Posted On |
2015-12-18 |