Incidental Mutation 'R0635:Nol8'
ID |
56627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol8
|
Ensembl Gene |
ENSMUSG00000021392 |
Gene Name |
nucleolar protein 8 |
Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
MMRRC Submission |
038824-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0635 (G1)
|
Quality Score |
182 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 49830234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1106
(S1106C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021824]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000223467]
|
AlphaFold |
Q3UHX0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021824
AA Change: S1124C
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000021824 Gene: ENSMUSG00000021392 AA Change: S1124C
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: ENSMUST00000221142
AA Change: S1106C
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221328
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222197
AA Change: S1124C
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
AA Change: S1106C
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
Meta Mutation Damage Score |
0.0746 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
99% (68/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,264,891 (GRCm39) |
|
probably benign |
Het |
Adamts15 |
A |
G |
9: 30,816,066 (GRCm39) |
L631P |
probably damaging |
Het |
Adamts17 |
T |
C |
7: 66,558,353 (GRCm39) |
F266L |
probably damaging |
Het |
Adgrb1 |
C |
A |
15: 74,412,741 (GRCm39) |
Q488K |
possibly damaging |
Het |
Armh4 |
A |
G |
14: 50,010,600 (GRCm39) |
L369S |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,328,538 (GRCm39) |
D109G |
probably damaging |
Het |
Chil5 |
A |
T |
3: 105,924,519 (GRCm39) |
Y229N |
possibly damaging |
Het |
Cntnap1 |
A |
G |
11: 101,074,285 (GRCm39) |
T742A |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,735,808 (GRCm39) |
|
probably null |
Het |
Col6a5 |
G |
A |
9: 105,805,805 (GRCm39) |
P1034S |
unknown |
Het |
Daxx |
T |
A |
17: 34,131,618 (GRCm39) |
D442E |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,984,490 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,971,731 (GRCm39) |
F2942S |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,924 (GRCm39) |
T240A |
probably benign |
Het |
Glg1 |
A |
G |
8: 111,890,396 (GRCm39) |
|
probably benign |
Het |
Gm10272 |
G |
A |
10: 77,542,535 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Haao |
A |
G |
17: 84,146,003 (GRCm39) |
F83S |
probably damaging |
Het |
Hdgfl2 |
T |
A |
17: 56,403,057 (GRCm39) |
L177Q |
probably damaging |
Het |
Hrh1 |
T |
C |
6: 114,457,106 (GRCm39) |
V129A |
probably damaging |
Het |
Ift43 |
T |
A |
12: 86,131,855 (GRCm39) |
|
probably benign |
Het |
Il21r |
T |
C |
7: 125,231,678 (GRCm39) |
Y369H |
probably damaging |
Het |
Il2ra |
C |
T |
2: 11,685,177 (GRCm39) |
T171M |
probably benign |
Het |
Lao1 |
C |
T |
4: 118,825,493 (GRCm39) |
R438C |
probably benign |
Het |
Lrrcc1 |
G |
A |
3: 14,624,288 (GRCm39) |
S350N |
probably benign |
Het |
Mageb5 |
T |
A |
X: 90,823,599 (GRCm39) |
Y260F |
probably benign |
Het |
Marchf5 |
A |
T |
19: 37,197,807 (GRCm39) |
I159F |
possibly damaging |
Het |
Mgat4a |
G |
A |
1: 37,491,375 (GRCm39) |
A282V |
probably benign |
Het |
Mipep |
G |
A |
14: 61,066,839 (GRCm39) |
V420I |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,356,661 (GRCm39) |
F370L |
possibly damaging |
Het |
Mt1 |
A |
T |
8: 94,906,449 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,149,999 (GRCm39) |
V943A |
probably benign |
Het |
Nkd2 |
T |
C |
13: 73,975,013 (GRCm39) |
D58G |
probably benign |
Het |
Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
Nusap1 |
A |
G |
2: 119,458,148 (GRCm39) |
T95A |
probably damaging |
Het |
Ocln |
T |
A |
13: 100,642,744 (GRCm39) |
Q197L |
probably damaging |
Het |
Or5p70 |
T |
A |
7: 107,994,971 (GRCm39) |
F215I |
probably benign |
Het |
Oxtr |
A |
G |
6: 112,466,161 (GRCm39) |
Y200H |
probably damaging |
Het |
Paip2b |
T |
C |
6: 83,786,891 (GRCm39) |
E115G |
possibly damaging |
Het |
Pcm1 |
T |
A |
8: 41,720,216 (GRCm39) |
|
probably benign |
Het |
Pcnt |
T |
C |
10: 76,240,419 (GRCm39) |
D1205G |
probably damaging |
Het |
Phka1 |
G |
A |
X: 101,665,006 (GRCm39) |
R186C |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,946,271 (GRCm39) |
|
probably benign |
Het |
Pik3r1 |
C |
T |
13: 101,893,926 (GRCm39) |
R81K |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,501,219 (GRCm39) |
D162G |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,502,749 (GRCm39) |
R191G |
probably damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,128 (GRCm39) |
|
probably benign |
Het |
Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
Rgr |
T |
A |
14: 36,760,904 (GRCm39) |
R218* |
probably null |
Het |
Rreb1 |
A |
T |
13: 38,125,540 (GRCm39) |
Q1282L |
possibly damaging |
Het |
Scel |
T |
A |
14: 103,820,575 (GRCm39) |
|
probably null |
Het |
Sema6b |
A |
G |
17: 56,436,971 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
T |
C |
11: 102,243,498 (GRCm39) |
E711G |
possibly damaging |
Het |
Snx19 |
C |
A |
9: 30,340,106 (GRCm39) |
L415M |
probably damaging |
Het |
Snx19 |
T |
G |
9: 30,340,107 (GRCm39) |
L415R |
probably damaging |
Het |
Specc1 |
G |
A |
11: 62,009,729 (GRCm39) |
R495Q |
probably damaging |
Het |
Tead1 |
T |
C |
7: 112,490,913 (GRCm39) |
|
probably benign |
Het |
Timm10b |
A |
C |
7: 105,289,895 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,186,235 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,605,861 (GRCm39) |
Y258N |
possibly damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,460,383 (GRCm39) |
F570I |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,300,759 (GRCm39) |
V587A |
probably benign |
Het |
Zfp398 |
T |
C |
6: 47,840,074 (GRCm39) |
I101T |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,233 (GRCm39) |
H487Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATTCAGTGGTGTGGGACAAGG -3'
(R):5'- GTCAGTCAAGTCAATCTGCCCTCC -3'
Sequencing Primer
(F):5'- TACATTCTGAGGGCCAAGTG -3'
(R):5'- ctcccttccttccttccttc -3'
|
Posted On |
2013-07-11 |