Incidental Mutation 'R7450:Nol8'
| ID |
577666 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 49813491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 179
(H179Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152536
(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: H179Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: H179Q
| 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
AA Change: H161Q
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221142
AA Change: H161Q
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222197
AA Change: H179Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223264
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
AA Change: H161Q
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,977 (GRCm39) |
R746W |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,810,478 (GRCm39) |
L925P |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,252,521 (GRCm39) |
H787Q |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,370,101 (GRCm39) |
V987E |
probably damaging |
Het |
| Afg2a |
T |
C |
3: 37,510,934 (GRCm39) |
L697S |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,525,147 (GRCm39) |
Y1676* |
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,097,933 (GRCm39) |
V1055A |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,202,447 (GRCm39) |
I283F |
possibly damaging |
Het |
| Cfap46 |
A |
T |
7: 139,197,353 (GRCm39) |
F2173I |
unknown |
Het |
| Cln6 |
G |
A |
9: 62,757,912 (GRCm39) |
E224K |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,415 (GRCm39) |
L372Q |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,006,165 (GRCm39) |
I3694N |
probably damaging |
Het |
| Dnal1 |
T |
C |
12: 84,171,297 (GRCm39) |
Y31H |
probably benign |
Het |
| Eid3 |
T |
A |
10: 82,702,737 (GRCm39) |
M66K |
probably benign |
Het |
| Epo |
T |
A |
5: 137,481,497 (GRCm39) |
E143D |
probably damaging |
Het |
| Fbxo25 |
C |
A |
8: 13,981,235 (GRCm39) |
N236K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,782,024 (GRCm39) |
I266V |
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,595,696 (GRCm39) |
Y444C |
probably damaging |
Het |
| Gna11 |
T |
C |
10: 81,368,356 (GRCm39) |
Y160C |
|
Het |
| Hectd4 |
A |
T |
5: 121,419,995 (GRCm39) |
T647S |
probably benign |
Het |
| Hgd |
T |
C |
16: 37,444,686 (GRCm39) |
V316A |
possibly damaging |
Het |
| Idh3a |
T |
C |
9: 54,503,367 (GRCm39) |
V142A |
probably damaging |
Het |
| Il3ra |
T |
A |
14: 14,351,090 (GRCm38) |
I297N |
probably benign |
Het |
| Kcnj5 |
T |
G |
9: 32,233,491 (GRCm39) |
I275L |
possibly damaging |
Het |
| Kdm7a |
A |
T |
6: 39,120,185 (GRCm39) |
L928Q |
probably damaging |
Het |
| Kmo |
A |
G |
1: 175,466,666 (GRCm39) |
I75V |
probably benign |
Het |
| Krtap1-3 |
C |
A |
11: 99,481,697 (GRCm39) |
C150F |
unknown |
Het |
| Lingo3 |
C |
A |
10: 80,670,671 (GRCm39) |
E420* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,389,152 (GRCm39) |
V2091A |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,982,643 (GRCm39) |
Y1632* |
probably null |
Het |
| Nlrp1a |
C |
A |
11: 70,998,484 (GRCm39) |
G905V |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,064,364 (GRCm39) |
E988V |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,360,365 (GRCm39) |
P1522L |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,022,495 (GRCm39) |
|
probably null |
Het |
| Oas1b |
T |
A |
5: 120,959,321 (GRCm39) |
Y234* |
probably null |
Het |
| Or10al7 |
T |
C |
17: 38,366,000 (GRCm39) |
I152M |
probably benign |
Het |
| Or12d17 |
C |
A |
17: 37,777,507 (GRCm39) |
Q137K |
probably benign |
Het |
| Or12e14 |
A |
C |
2: 87,676,803 (GRCm39) |
K63Q |
probably damaging |
Het |
| Or13c9 |
T |
A |
4: 52,936,113 (GRCm39) |
K57* |
probably null |
Het |
| Or6c1b |
A |
C |
10: 129,273,298 (GRCm39) |
M206L |
probably benign |
Het |
| Pag1 |
T |
C |
3: 9,764,599 (GRCm39) |
T185A |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,721,292 (GRCm39) |
S100T |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,826,945 (GRCm39) |
A690E |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,849,079 (GRCm39) |
T362M |
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,951,983 (GRCm39) |
V286E |
possibly damaging |
Het |
| Pon3 |
T |
C |
6: 5,236,940 (GRCm39) |
I142M |
possibly damaging |
Het |
| Prdx6 |
A |
G |
1: 161,069,386 (GRCm39) |
S194P |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,080,366 (GRCm39) |
E112G |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rps6kb1 |
T |
A |
11: 86,393,657 (GRCm39) |
E491V |
probably benign |
Het |
| Sema3d |
C |
T |
5: 12,634,901 (GRCm39) |
Q656* |
probably null |
Het |
| Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
| Slc16a7 |
G |
T |
10: 125,063,920 (GRCm39) |
H472Q |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,589,344 (GRCm39) |
I90V |
possibly damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,720,995 (GRCm39) |
|
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,810,924 (GRCm39) |
V20A |
probably damaging |
Het |
| Sstr3 |
G |
A |
15: 78,424,043 (GRCm39) |
R235W |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,064,248 (GRCm39) |
H3245L |
possibly damaging |
Het |
| Tra2a |
G |
A |
6: 49,227,919 (GRCm39) |
R70* |
probably null |
Het |
| Trav7-4 |
G |
T |
14: 53,698,924 (GRCm39) |
V24L |
probably benign |
Het |
| Tsc2 |
C |
A |
17: 24,819,005 (GRCm39) |
S1278I |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,475 (GRCm39) |
S726P |
unknown |
Het |
| Vmn2r42 |
A |
T |
7: 8,187,220 (GRCm39) |
Y851N |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,640,016 (GRCm39) |
Y509H |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,340,159 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,667,281 (GRCm39) |
F609L |
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,043,035 (GRCm39) |
H388Q |
probably benign |
Het |
| Zfp1004 |
A |
G |
2: 150,035,046 (GRCm39) |
T456A |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,392 (GRCm39) |
K52E |
probably benign |
Het |
| Zfp82 |
T |
G |
7: 29,756,320 (GRCm39) |
E254A |
probably damaging |
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 |
|
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 |
|
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'- AGTAGTCCATTGTGAGCTCAAC -3'
(R):5'- CATTAGCAATGCCTTGTAAATCCC -3'
Sequencing Primer
(F):5'- GTGATAATCATAAGTTCTCTCTC -3'
(R):5'- GGCCTGGAACTTGCCATGTAAATC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation