Incidental Mutation 'IGL02212:Nol8'
| ID |
285546 |
| 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 # |
IGL02212
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49815626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 560
(E560G)
|
| 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: E578G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: E578G
| 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: E560G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222197
AA Change: E578G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223346
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223467
AA Change: E560G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,079,233 (GRCm39) |
D1079V |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,127,195 (GRCm39) |
H467R |
probably benign |
Het |
| Ambra1 |
T |
G |
2: 91,747,706 (GRCm39) |
D1056E |
probably damaging |
Het |
| Aoah |
A |
C |
13: 21,187,071 (GRCm39) |
N456T |
probably benign |
Het |
| Batf2 |
T |
A |
19: 6,221,991 (GRCm39) |
F267Y |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,648,558 (GRCm39) |
V397I |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,723,808 (GRCm39) |
D824E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,029,841 (GRCm39) |
V601E |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,647,271 (GRCm39) |
F773L |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,522,345 (GRCm38) |
D606E |
possibly damaging |
Het |
| Cenps |
T |
G |
4: 149,213,303 (GRCm39) |
D54A |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,563,502 (GRCm39) |
N1504I |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,382,748 (GRCm39) |
V1340A |
possibly damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,052,091 (GRCm39) |
S667T |
probably benign |
Het |
| Defa38 |
C |
T |
8: 21,585,276 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,189,413 (GRCm39) |
Y272C |
probably damaging |
Het |
| Dlx3 |
A |
G |
11: 95,011,467 (GRCm39) |
D107G |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,675 (GRCm39) |
N56I |
probably benign |
Het |
| Elavl4 |
T |
A |
4: 110,063,609 (GRCm39) |
I331F |
probably damaging |
Het |
| Fam167a |
T |
G |
14: 63,700,078 (GRCm39) |
S213A |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,698,729 (GRCm39) |
I2489N |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,151,957 (GRCm39) |
K587E |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,252,881 (GRCm39) |
D116G |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,457,546 (GRCm39) |
V194A |
probably benign |
Het |
| Gpr180 |
T |
A |
14: 118,397,588 (GRCm39) |
F361I |
probably damaging |
Het |
| Gpx2 |
A |
T |
12: 76,839,682 (GRCm39) |
C105* |
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,911 (GRCm39) |
|
probably benign |
Het |
| Hes2 |
T |
G |
4: 152,244,982 (GRCm39) |
S150R |
probably damaging |
Het |
| Ighv1-56 |
C |
T |
12: 115,206,417 (GRCm39) |
|
probably benign |
Het |
| Inhbb |
A |
T |
1: 119,345,713 (GRCm39) |
V192D |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,900,152 (GRCm39) |
M137L |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,265,382 (GRCm39) |
N470D |
probably benign |
Het |
| Jph1 |
T |
C |
1: 17,161,981 (GRCm39) |
E227G |
probably damaging |
Het |
| Kcnj6 |
A |
T |
16: 94,633,346 (GRCm39) |
I237N |
probably damaging |
Het |
| Kctd8 |
G |
T |
5: 69,498,031 (GRCm39) |
P205Q |
probably benign |
Het |
| Klhdc1 |
A |
T |
12: 69,297,540 (GRCm39) |
N37I |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,281,608 (GRCm39) |
H3921L |
probably benign |
Het |
| Lrp8os2 |
T |
C |
4: 107,664,245 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
A |
C |
7: 80,012,056 (GRCm39) |
D700E |
probably benign |
Het |
| Mast1 |
A |
T |
8: 85,648,026 (GRCm39) |
L485Q |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
| Mptx2 |
T |
A |
1: 173,102,248 (GRCm39) |
D147V |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,351,124 (GRCm39) |
|
probably null |
Het |
| Mup21 |
T |
G |
4: 62,066,829 (GRCm39) |
E137A |
probably damaging |
Het |
| Mutyh |
T |
A |
4: 116,672,803 (GRCm39) |
V52D |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,752,742 (GRCm39) |
S340C |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,198,323 (GRCm39) |
Y474H |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,480,711 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nup93 |
G |
A |
8: 95,038,290 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
A |
G |
2: 36,578,194 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or2n1b |
C |
A |
17: 38,459,746 (GRCm39) |
T89K |
probably benign |
Het |
| Or2y14 |
A |
T |
11: 49,404,737 (GRCm39) |
I91F |
probably damaging |
Het |
| Or52b2 |
C |
T |
7: 104,986,350 (GRCm39) |
C191Y |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,465 (GRCm39) |
V40E |
possibly damaging |
Het |
| Peg3 |
C |
T |
7: 6,714,415 (GRCm39) |
R269H |
probably benign |
Het |
| Piwil1 |
T |
A |
5: 128,827,334 (GRCm39) |
F648I |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,295,326 (GRCm39) |
K827* |
probably null |
Het |
| Retsat |
T |
A |
6: 72,578,693 (GRCm39) |
L135* |
probably null |
Het |
| Rtp3 |
A |
G |
9: 110,816,389 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
A |
G |
11: 94,914,176 (GRCm39) |
Y305C |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,082,319 (GRCm39) |
Q445L |
possibly damaging |
Het |
| Shbg |
A |
G |
11: 69,508,035 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc17a6 |
T |
A |
7: 51,317,218 (GRCm39) |
I413N |
possibly damaging |
Het |
| Slu7 |
A |
T |
11: 43,331,469 (GRCm39) |
Q201L |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,938,638 (GRCm39) |
T439A |
probably benign |
Het |
| Sstr5 |
A |
T |
17: 25,710,647 (GRCm39) |
L194Q |
possibly damaging |
Het |
| Tjp2 |
A |
T |
19: 24,116,150 (GRCm39) |
L13Q |
probably damaging |
Het |
| Tnk2 |
G |
A |
16: 32,498,960 (GRCm39) |
V758I |
probably damaging |
Het |
| Ttll8 |
C |
A |
15: 88,801,450 (GRCm39) |
V413L |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,587,109 (GRCm39) |
D67G |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation