Incidental Mutation 'R5744:Nol8'
ID |
445731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol8
|
Ensembl Gene |
ENSMUSG00000021392 |
Gene Name |
nucleolar protein 8 |
Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
MMRRC Submission |
043197-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5744 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49815802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 619
(N619D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152878
(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: N637D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021824 Gene: ENSMUSG00000021392 AA Change: N637D
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 |
possibly damaging
Transcript: ENSMUST00000221142
AA Change: N619D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222197
AA Change: N637D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223346
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223467
AA Change: N619D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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 |
Aldoart2 |
A |
G |
12: 55,612,131 (GRCm39) |
I19V |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,586,977 (GRCm39) |
I943T |
probably benign |
Het |
Btaf1 |
T |
C |
19: 36,981,890 (GRCm39) |
V1640A |
probably benign |
Het |
Cep250 |
T |
C |
2: 155,823,394 (GRCm39) |
F1015S |
possibly damaging |
Het |
Cgnl1 |
G |
T |
9: 71,537,957 (GRCm39) |
|
probably null |
Het |
Csgalnact2 |
C |
T |
6: 118,103,197 (GRCm39) |
G255E |
probably damaging |
Het |
Ctla2a |
C |
T |
13: 61,083,767 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
T |
13: 9,618,441 (GRCm39) |
I497F |
probably damaging |
Het |
Eif3f |
C |
A |
7: 108,537,624 (GRCm39) |
T179K |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,563,380 (GRCm39) |
F376L |
probably damaging |
Het |
Gemin4 |
A |
T |
11: 76,102,991 (GRCm39) |
F590Y |
probably damaging |
Het |
Gemin5 |
C |
A |
11: 58,046,009 (GRCm39) |
C433F |
possibly damaging |
Het |
Gm7694 |
C |
T |
1: 170,130,075 (GRCm39) |
|
probably null |
Het |
Gpr158 |
G |
A |
2: 21,373,331 (GRCm39) |
G89R |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,415,475 (GRCm39) |
P4817S |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,375,852 (GRCm39) |
L9P |
possibly damaging |
Het |
Igdcc3 |
TGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGC |
9: 65,048,770 (GRCm39) |
|
probably benign |
Het |
Il1rap |
A |
C |
16: 26,498,974 (GRCm39) |
I158L |
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,277,649 (GRCm39) |
S640P |
probably damaging |
Het |
Metrn |
A |
G |
17: 26,014,211 (GRCm39) |
V205A |
probably damaging |
Het |
Mfhas1 |
C |
A |
8: 36,056,636 (GRCm39) |
D370E |
probably damaging |
Het |
Mn1 |
T |
C |
5: 111,568,402 (GRCm39) |
S791P |
possibly damaging |
Het |
Mtmr3 |
A |
G |
11: 4,437,679 (GRCm39) |
V925A |
possibly damaging |
Het |
Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
Nup214 |
T |
C |
2: 31,900,308 (GRCm39) |
L879P |
probably damaging |
Het |
Or2l5 |
A |
G |
16: 19,334,086 (GRCm39) |
I100T |
probably benign |
Het |
Or7a37 |
T |
C |
10: 78,806,017 (GRCm39) |
F178S |
probably damaging |
Het |
Or9k2 |
T |
C |
10: 129,998,661 (GRCm39) |
D178G |
possibly damaging |
Het |
Plxna1 |
C |
T |
6: 89,311,664 (GRCm39) |
R947Q |
possibly damaging |
Het |
Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
Reln |
A |
C |
5: 22,311,081 (GRCm39) |
S277R |
probably null |
Het |
Sel1l |
A |
T |
12: 91,776,754 (GRCm39) |
I746N |
possibly damaging |
Het |
Slc2a8 |
C |
T |
2: 32,866,040 (GRCm39) |
D291N |
probably benign |
Het |
Slc7a5 |
T |
C |
8: 122,615,121 (GRCm39) |
N242S |
probably benign |
Het |
Smco3 |
T |
C |
6: 136,808,763 (GRCm39) |
N37S |
probably damaging |
Het |
Sult1c2 |
T |
A |
17: 54,280,990 (GRCm39) |
K38* |
probably null |
Het |
Tfap2b |
T |
C |
1: 19,289,445 (GRCm39) |
M190T |
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,778,523 (GRCm39) |
Y623* |
probably null |
Het |
Tomm70a |
G |
T |
16: 56,942,202 (GRCm39) |
|
probably benign |
Het |
Ttyh2 |
T |
C |
11: 114,593,136 (GRCm39) |
|
probably null |
Het |
Zbtb10 |
A |
G |
3: 9,329,623 (GRCm39) |
Y327C |
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 |
|
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'- CAAAATTCCAGGCCTTCAAGG -3'
(R):5'- AGCGTCTCCATCAGAGTCTAC -3'
Sequencing Primer
(F):5'- CCTTCAAGGGAATAGGCTGTCTC -3'
(R):5'- CTACCTTGTGACTGTTGGCACTAAG -3'
|
Posted On |
2016-11-21 |