Incidental Mutation 'R3969:Nol8'
| ID |
310893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol8
|
| Ensembl Gene |
ENSMUSG00000021392 |
| Gene Name |
nucleolar protein 8 |
| Synonyms |
5730412B09Rik, D13Ertd548e, 4921532D18Rik |
| MMRRC Submission |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49653078-49679016 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 49660016 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 162
(K162*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021824]
[ENSMUST00000021824]
[ENSMUST00000021824]
[ENSMUST00000021824]
[ENSMUST00000221083]
[ENSMUST00000221083]
[ENSMUST00000221142]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000222197]
[ENSMUST00000222333]
[ENSMUST00000223264]
[ENSMUST00000223467]
[ENSMUST00000223467]
|
| AlphaFold |
Q3UHX0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021824
AA Change: K180*
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: K180*
| 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 null
Transcript: ENSMUST00000021824
AA Change: K180*
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: K180*
| 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 null
Transcript: ENSMUST00000021824
AA Change: K180*
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: K180*
| 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 null
Transcript: ENSMUST00000021824
AA Change: K180*
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: K180*
| 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 null
Transcript: ENSMUST00000221083
AA Change: K162*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221083
AA Change: K162*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221142
AA Change: K162*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221142
AA Change: K162*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222197
AA Change: K180*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222197
AA Change: K180*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223264
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223467
AA Change: K162*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223467
AA Change: K162*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,959,947 (GRCm38) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 43,005,551 (GRCm38) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 134,749,756 (GRCm38) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,796,959 (GRCm38) |
C273F |
possibly damaging |
Het |
| Camk4 |
T |
A |
18: 33,179,581 (GRCm38) |
I258N |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,121,635 (GRCm38) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,897,141 (GRCm38) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,872,811 (GRCm38) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 118,041,158 (GRCm38) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,564,022 (GRCm38) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,378,705 (GRCm38) |
M1K |
probably null |
Het |
| Flna |
A |
T |
X: 74,235,667 (GRCm38) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,112,423 (GRCm38) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,907,345 (GRCm38) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,311,701 (GRCm38) |
Y194C |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,419,739 (GRCm38) |
Q481L |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,782 (GRCm38) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,580,341 (GRCm38) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,708,198 (GRCm38) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 172,070,009 (GRCm38) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,255,425 (GRCm38) |
|
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,121,660 (GRCm38) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,775,368 (GRCm38) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 119,928,624 (GRCm38) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,276,309 (GRCm38) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,011,696 (GRCm38) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 70,770,421 (GRCm38) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,524,961 (GRCm38) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,806,280 (GRCm38) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,686,632 (GRCm38) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,248,270 (GRCm38) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 92,940,879 (GRCm38) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,673,952 (GRCm38) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,762,446 (GRCm38) |
N113Y |
probably damaging |
Het |
| Usp17lc |
A |
T |
7: 103,418,419 (GRCm38) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 87,003,593 (GRCm38) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,258,385 (GRCm38) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 47,856,323 (GRCm38) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,940,416 (GRCm38) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm38) |
S308F |
probably damaging |
Het |
|
| Other mutations in Nol8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Nol8
|
APN |
13 |
49,662,228 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01106:Nol8
|
APN |
13 |
49,654,481 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL01413:Nol8
|
APN |
13 |
49,659,952 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01540:Nol8
|
APN |
13 |
49,661,670 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01670:Nol8
|
APN |
13 |
49,661,308 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL01672:Nol8
|
APN |
13 |
49,675,407 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02032:Nol8
|
APN |
13 |
49,672,772 (GRCm38) |
missense |
probably benign |
|
|
IGL02212:Nol8
|
APN |
13 |
49,662,150 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02323:Nol8
|
APN |
13 |
49,655,245 (GRCm38) |
splice site |
probably benign |
|
|
IGL02645:Nol8
|
APN |
13 |
49,665,471 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02949:Nol8
|
APN |
13 |
49,662,402 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02954:Nol8
|
APN |
13 |
49,661,172 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03182:Nol8
|
APN |
13 |
49,664,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03406:Nol8
|
APN |
13 |
49,661,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0047:Nol8
|
UTSW |
13 |
49,654,348 (GRCm38) |
splice site |
probably null |
|
|
R0092:Nol8
|
UTSW |
13 |
49,662,447 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0099:Nol8
|
UTSW |
13 |
49,672,689 (GRCm38) |
missense |
probably benign |
|
|
R0145:Nol8
|
UTSW |
13 |
49,662,447 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0269:Nol8
|
UTSW |
13 |
49,654,445 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0370:Nol8
|
UTSW |
13 |
49,662,447 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0374:Nol8
|
UTSW |
13 |
49,662,447 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0390:Nol8
|
UTSW |
13 |
49,662,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0617:Nol8
|
UTSW |
13 |
49,654,445 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0635:Nol8
|
UTSW |
13 |
49,676,758 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0637:Nol8
|
UTSW |
13 |
49,662,447 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1246:Nol8
|
UTSW |
13 |
49,676,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1446:Nol8
|
UTSW |
13 |
49,655,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1464:Nol8
|
UTSW |
13 |
49,676,788 (GRCm38) |
missense |
probably benign |
|
|
R1464:Nol8
|
UTSW |
13 |
49,676,788 (GRCm38) |
missense |
probably benign |
|
|
R1627:Nol8
|
UTSW |
13 |
49,661,504 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1703:Nol8
|
UTSW |
13 |
49,667,457 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1751:Nol8
|
UTSW |
13 |
49,667,408 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2187:Nol8
|
UTSW |
13 |
49,661,999 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2357:Nol8
|
UTSW |
13 |
49,654,504 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3081:Nol8
|
UTSW |
13 |
49,678,392 (GRCm38) |
unclassified |
probably benign |
|
|
R4199:Nol8
|
UTSW |
13 |
49,661,748 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4720:Nol8
|
UTSW |
13 |
49,662,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4927:Nol8
|
UTSW |
13 |
49,654,425 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5177:Nol8
|
UTSW |
13 |
49,661,112 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5512:Nol8
|
UTSW |
13 |
49,676,787 (GRCm38) |
missense |
probably benign |
|
|
R5744:Nol8
|
UTSW |
13 |
49,662,326 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5988:Nol8
|
UTSW |
13 |
49,672,614 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R6048:Nol8
|
UTSW |
13 |
49,653,684 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6306:Nol8
|
UTSW |
13 |
49,676,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6359:Nol8
|
UTSW |
13 |
49,664,070 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6378:Nol8
|
UTSW |
13 |
49,667,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6655:Nol8
|
UTSW |
13 |
49,654,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7035:Nol8
|
UTSW |
13 |
49,661,202 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7058:Nol8
|
UTSW |
13 |
49,676,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7368:Nol8
|
UTSW |
13 |
49,661,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7450:Nol8
|
UTSW |
13 |
49,660,015 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7673:Nol8
|
UTSW |
13 |
49,664,780 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7750:Nol8
|
UTSW |
13 |
49,662,266 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8246:Nol8
|
UTSW |
13 |
49,655,248 (GRCm38) |
splice site |
probably benign |
|
|
R9081:Nol8
|
UTSW |
13 |
49,661,405 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9127:Nol8
|
UTSW |
13 |
49,661,999 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9223:Nol8
|
UTSW |
13 |
49,661,262 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
X0020:Nol8
|
UTSW |
13 |
49,661,165 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTTTAATAGTAGTCCATTGTGAGC -3'
(R):5'- TGGCATTCATAATTTGTACCACCC -3'
Sequencing Primer
(F):5'- AGTAGTCCATTGTGAGCTCAAC -3'
(R):5'- TTCATAATTTGTACCACCCAACTAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation