Incidental Mutation 'IGL01672:Nol8'
| ID |
103530 |
| 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 # |
IGL01672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49828883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1047
(V1047A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021824]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000223467]
|
| AlphaFold |
Q3UHX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021824
AA Change: V1065A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: V1065A
| 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 |
possibly damaging
Transcript: ENSMUST00000221142
AA Change: V1047A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221328
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222197
AA Change: V1065A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223467
AA Change: V1047A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,618,316 (GRCm39) |
E203G |
probably damaging |
Het |
| Ano1 |
G |
T |
7: 144,209,412 (GRCm39) |
Q206K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,894,109 (GRCm39) |
S620T |
probably damaging |
Het |
| Arfip1 |
A |
T |
3: 84,455,339 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 59,928,982 (GRCm39) |
M1024K |
probably benign |
Het |
| Brap |
T |
C |
5: 121,816,908 (GRCm39) |
|
probably benign |
Het |
| Calcrl |
T |
A |
2: 84,175,414 (GRCm39) |
T287S |
probably damaging |
Het |
| Clptm1l |
G |
A |
13: 73,755,992 (GRCm39) |
|
probably null |
Het |
| Cpb1 |
T |
A |
3: 20,329,585 (GRCm39) |
Q47L |
probably null |
Het |
| Cse1l |
T |
C |
2: 166,771,887 (GRCm39) |
I402T |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,932,986 (GRCm39) |
S3591P |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,264,774 (GRCm39) |
I2322S |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,118,884 (GRCm39) |
R2194* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,814,041 (GRCm39) |
V1355A |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,931,977 (GRCm39) |
N30S |
possibly damaging |
Het |
| Ero1a |
A |
C |
14: 45,529,887 (GRCm39) |
S349A |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,493,737 (GRCm39) |
T3938I |
probably benign |
Het |
| Focad |
T |
C |
4: 88,278,827 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
A |
T |
3: 108,016,775 (GRCm39) |
I343N |
probably damaging |
Het |
| Golph3 |
T |
C |
15: 12,349,643 (GRCm39) |
V221A |
probably benign |
Het |
| Gpr153 |
C |
A |
4: 152,364,370 (GRCm39) |
S142* |
probably null |
Het |
| Itpr1 |
C |
A |
6: 108,357,993 (GRCm39) |
Y557* |
probably null |
Het |
| Nat8f5 |
A |
G |
6: 85,794,934 (GRCm39) |
Y9H |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,429,650 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Or2t48 |
A |
C |
11: 58,419,948 (GRCm39) |
L288R |
probably benign |
Het |
| Or5p1 |
T |
A |
7: 107,916,725 (GRCm39) |
V208E |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,899,881 (GRCm39) |
T178I |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,536 (GRCm39) |
I114F |
probably benign |
Het |
| Pcca |
A |
T |
14: 122,927,557 (GRCm39) |
Y440F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,827,037 (GRCm39) |
M599T |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,807,471 (GRCm39) |
Y189F |
possibly damaging |
Het |
| Plscr3 |
A |
G |
11: 69,738,508 (GRCm39) |
K91R |
possibly damaging |
Het |
| Rars1 |
A |
T |
11: 35,699,380 (GRCm39) |
C638S |
probably damaging |
Het |
| Relb |
T |
A |
7: 19,345,619 (GRCm39) |
H406L |
probably benign |
Het |
| Ros1 |
G |
T |
10: 51,977,899 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Samd3 |
A |
T |
10: 26,146,067 (GRCm39) |
N364I |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,278 (GRCm39) |
I1542N |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 142,170,930 (GRCm39) |
M1931K |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,361,077 (GRCm39) |
D309G |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,889,986 (GRCm39) |
S825P |
probably damaging |
Het |
| Swt1 |
C |
T |
1: 151,270,359 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,338,846 (GRCm39) |
H362Q |
probably benign |
Het |
| Zfp451 |
C |
A |
1: 33,801,247 (GRCm39) |
M1056I |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation