Incidental Mutation 'R7035:Nol8'
ID |
546629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol8
|
Ensembl Gene |
ENSMUSG00000021392 |
Gene Name |
nucleolar protein 8 |
Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
MMRRC Submission |
045136-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7035 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49814678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 262
(V262A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021824]
[ENSMUST00000221083]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000222333]
[ENSMUST00000223264]
[ENSMUST00000223467]
|
AlphaFold |
Q3UHX0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021824
AA Change: V262A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000021824 Gene: ENSMUSG00000021392 AA Change: V262A
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 |
probably benign
Transcript: ENSMUST00000221142
AA Change: V244A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222197
AA Change: V262A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223264
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
AA Change: V244A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (70/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
T |
A |
3: 68,777,272 (GRCm39) |
F78I |
probably benign |
Het |
1700102P08Rik |
A |
T |
9: 108,272,510 (GRCm39) |
D140V |
possibly damaging |
Het |
6430548M08Rik |
A |
T |
8: 120,879,225 (GRCm39) |
S208C |
probably damaging |
Het |
Abcd4 |
G |
T |
12: 84,662,123 (GRCm39) |
T41K |
probably damaging |
Het |
Acaca |
C |
T |
11: 84,129,769 (GRCm39) |
R375C |
probably damaging |
Het |
Acad11 |
T |
A |
9: 103,990,694 (GRCm39) |
V433D |
probably damaging |
Het |
Adal |
T |
A |
2: 120,985,942 (GRCm39) |
C226S |
probably benign |
Het |
Aldh3b2 |
A |
T |
19: 4,028,142 (GRCm39) |
M95L |
probably benign |
Het |
Ano4 |
A |
G |
10: 88,790,573 (GRCm39) |
F842S |
probably damaging |
Het |
Ap5s1 |
T |
C |
2: 131,054,732 (GRCm39) |
F181S |
probably damaging |
Het |
Apba1 |
G |
A |
19: 23,894,931 (GRCm39) |
D456N |
possibly damaging |
Het |
Armh4 |
T |
A |
14: 50,010,507 (GRCm39) |
H400L |
possibly damaging |
Het |
Atp6v0a1 |
A |
C |
11: 100,918,183 (GRCm39) |
Q199H |
probably damaging |
Het |
Atp8a1 |
C |
G |
5: 67,938,373 (GRCm39) |
G161A |
probably benign |
Het |
Atxn2 |
C |
T |
5: 121,949,530 (GRCm39) |
Q61* |
probably null |
Het |
Cacna2d1 |
T |
A |
5: 16,451,670 (GRCm39) |
I178K |
probably damaging |
Het |
Catsperb |
A |
C |
12: 101,381,593 (GRCm39) |
T92P |
probably damaging |
Het |
Ccdc175 |
A |
G |
12: 72,202,419 (GRCm39) |
I292T |
probably benign |
Het |
Cep290 |
T |
A |
10: 100,334,933 (GRCm39) |
S318T |
probably benign |
Het |
Cfb |
T |
A |
17: 35,079,007 (GRCm39) |
Y826F |
possibly damaging |
Het |
Cntn1 |
C |
A |
15: 92,212,392 (GRCm39) |
D851E |
probably benign |
Het |
Coq6 |
A |
G |
12: 84,415,415 (GRCm39) |
D146G |
probably damaging |
Het |
Crem |
G |
A |
18: 3,327,503 (GRCm39) |
T12I |
probably damaging |
Het |
Dennd4c |
G |
A |
4: 86,730,574 (GRCm39) |
V824I |
probably damaging |
Het |
Dnase2b |
C |
T |
3: 146,288,096 (GRCm39) |
C333Y |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,406,355 (GRCm39) |
F365I |
possibly damaging |
Het |
Dysf |
A |
T |
6: 84,163,374 (GRCm39) |
I1570F |
probably benign |
Het |
Eml1 |
T |
A |
12: 108,475,493 (GRCm39) |
C275S |
probably damaging |
Het |
Fam135b |
A |
C |
15: 71,334,102 (GRCm39) |
S1031A |
possibly damaging |
Het |
Gga2 |
T |
C |
7: 121,588,939 (GRCm39) |
D596G |
probably damaging |
Het |
Gin1 |
A |
C |
1: 97,720,100 (GRCm39) |
Y365S |
possibly damaging |
Het |
Gipr |
T |
A |
7: 18,896,809 (GRCm39) |
I154F |
probably damaging |
Het |
Gm5478 |
A |
T |
15: 101,553,632 (GRCm39) |
I284N |
possibly damaging |
Het |
Gnat1 |
A |
T |
9: 107,553,827 (GRCm39) |
|
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,650,569 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
A |
17: 68,088,044 (GRCm39) |
I1554N |
|
Het |
Mycbp2 |
T |
A |
14: 103,412,417 (GRCm39) |
T2519S |
probably benign |
Het |
Mylk |
G |
A |
16: 34,797,352 (GRCm39) |
V1604M |
possibly damaging |
Het |
Mypop |
C |
T |
7: 18,725,922 (GRCm39) |
|
probably benign |
Het |
Nol6 |
A |
T |
4: 41,118,479 (GRCm39) |
V774E |
probably benign |
Het |
Npepps |
A |
T |
11: 97,113,965 (GRCm39) |
V637D |
probably damaging |
Het |
Or1e16 |
T |
C |
11: 73,286,544 (GRCm39) |
I101M |
probably benign |
Het |
Or4f52 |
A |
G |
2: 111,061,784 (GRCm39) |
M118T |
probably damaging |
Het |
Or5p52 |
T |
C |
7: 107,502,140 (GRCm39) |
V72A |
probably benign |
Het |
Pcdhgb8 |
A |
T |
18: 37,896,201 (GRCm39) |
I424F |
possibly damaging |
Het |
Phf7 |
A |
C |
14: 30,961,183 (GRCm39) |
W231G |
probably damaging |
Het |
Plagl1 |
A |
G |
10: 13,003,977 (GRCm39) |
|
probably benign |
Het |
Plat |
A |
T |
8: 23,262,327 (GRCm39) |
D117V |
probably benign |
Het |
Prkag2 |
T |
C |
5: 25,152,564 (GRCm39) |
Y180C |
probably damaging |
Het |
Prpf8 |
T |
C |
11: 75,395,654 (GRCm39) |
I1927T |
possibly damaging |
Het |
Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
Rad17 |
T |
A |
13: 100,764,133 (GRCm39) |
D446V |
possibly damaging |
Het |
Ralgapa2 |
G |
T |
2: 146,353,777 (GRCm39) |
Q15K |
probably damaging |
Het |
Ret |
A |
G |
6: 118,140,247 (GRCm39) |
Y982H |
probably damaging |
Het |
Rnf145 |
T |
A |
11: 44,452,583 (GRCm39) |
S521T |
probably damaging |
Het |
Samd4 |
G |
A |
14: 47,326,620 (GRCm39) |
|
silent |
Het |
Sardh |
T |
C |
2: 27,120,854 (GRCm39) |
D390G |
probably damaging |
Het |
Saxo1 |
T |
C |
4: 86,363,359 (GRCm39) |
T375A |
probably damaging |
Het |
Scly |
A |
G |
1: 91,236,125 (GRCm39) |
T126A |
probably damaging |
Het |
Slc6a16 |
T |
A |
7: 44,910,251 (GRCm39) |
V307D |
probably damaging |
Het |
Sned1 |
T |
C |
1: 93,189,852 (GRCm39) |
C320R |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,426,147 (GRCm39) |
|
probably null |
Het |
Sycp2l |
C |
T |
13: 41,310,973 (GRCm39) |
T645I |
unknown |
Het |
Tpmt |
T |
C |
13: 47,193,584 (GRCm39) |
K72E |
probably damaging |
Het |
Tsbp1 |
C |
T |
17: 34,679,305 (GRCm39) |
|
probably benign |
Het |
Ube2q2l |
G |
A |
6: 136,378,347 (GRCm39) |
T161M |
possibly damaging |
Het |
Vmn1r51 |
A |
T |
6: 90,106,207 (GRCm39) |
H41L |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,003,415 (GRCm39) |
I2900N |
probably damaging |
Het |
Zfp663 |
A |
G |
2: 165,195,023 (GRCm39) |
S399P |
probably benign |
Het |
Zfp692 |
T |
C |
11: 58,200,268 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- ACTCCCATAGCTGAACTCACTTG -3'
(R):5'- AATGCCCAGGTTTCTCTCTG -3'
Sequencing Primer
(F):5'- CATAGCTGAACTCACTTGGGAATTGG -3'
(R):5'- TCTTCCGAGTCAACATCATCATCAG -3'
|
Posted On |
2019-05-13 |