Incidental Mutation 'R0637:Nol8'
| ID |
56774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol8
|
| Ensembl Gene |
ENSMUSG00000021392 |
| Gene Name |
nucleolar protein 8 |
| Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
| MMRRC Submission |
038826-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0637 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49815923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 677
(A677V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152536
(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: A677V
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392
AA Change: A677V
| 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: A659V
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222197
AA Change: A677V
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
AA Change: A659V
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 94.9%
|
| Validation Efficiency |
100% (68/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
T |
9: 53,498,831 (GRCm39) |
D285N |
probably damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,304 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,600,015 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,890,241 (GRCm39) |
M143I |
possibly damaging |
Het |
| Aup1 |
T |
A |
6: 83,033,842 (GRCm39) |
V344D |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,891,405 (GRCm39) |
V511M |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,910,955 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
A |
T |
15: 80,256,855 (GRCm39) |
Y1083F |
probably damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,740 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
C |
T |
8: 105,561,237 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,962,550 (GRCm39) |
N769S |
possibly damaging |
Het |
| Clca3b |
A |
T |
3: 144,533,701 (GRCm39) |
V558D |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,017 (GRCm39) |
D1736G |
probably benign |
Het |
| Cpne8 |
C |
A |
15: 90,532,824 (GRCm39) |
C61F |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,998 (GRCm39) |
I8T |
probably benign |
Het |
| D630003M21Rik |
T |
G |
2: 158,037,327 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,890,763 (GRCm39) |
D99E |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,050,880 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,773,354 (GRCm39) |
H570L |
possibly damaging |
Het |
| Gars1 |
G |
A |
6: 55,046,472 (GRCm39) |
|
probably null |
Het |
| Gm10309 |
A |
G |
17: 86,806,463 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
G |
A |
8: 52,649,860 (GRCm39) |
Q78* |
probably null |
Het |
| Has1 |
A |
G |
17: 18,064,125 (GRCm39) |
Y505H |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,989,738 (GRCm39) |
L2063* |
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
C |
11: 104,549,702 (GRCm39) |
V614A |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,321 (GRCm39) |
|
probably benign |
Het |
| Lrrc63 |
A |
T |
14: 75,335,660 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,057,180 (GRCm39) |
R357* |
probably null |
Het |
| Mink1 |
C |
A |
11: 70,492,502 (GRCm39) |
N123K |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,501,890 (GRCm39) |
H591R |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,606,058 (GRCm39) |
T923A |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,844,666 (GRCm39) |
T554A |
probably damaging |
Het |
| Nfe2l1 |
T |
C |
11: 96,718,514 (GRCm39) |
Y7C |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,470 (GRCm39) |
M4904K |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,973,602 (GRCm39) |
L1910I |
probably damaging |
Het |
| Or8b41 |
T |
C |
9: 38,055,178 (GRCm39) |
F244S |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,619 (GRCm39) |
V617E |
probably damaging |
Het |
| Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
| Pgrmc1 |
T |
C |
X: 35,865,924 (GRCm39) |
F160S |
probably damaging |
Het |
| Pink1 |
G |
T |
4: 138,045,357 (GRCm39) |
P239Q |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,520,479 (GRCm39) |
Y77F |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,999,005 (GRCm39) |
|
probably benign |
Het |
| Rbpms |
G |
A |
8: 34,296,864 (GRCm39) |
P138S |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,445,055 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,564,910 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
C |
T |
16: 72,798,839 (GRCm39) |
T933M |
probably benign |
Het |
| Sinhcaf |
A |
G |
6: 148,832,163 (GRCm39) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,028,398 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,560 (GRCm39) |
Y2009C |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,677,905 (GRCm39) |
T97P |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,620,542 (GRCm39) |
L1320* |
probably null |
Het |
| Topaz1 |
A |
G |
9: 122,626,727 (GRCm39) |
M1452V |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,509 (GRCm39) |
F2082C |
probably damaging |
Het |
| Trim24 |
C |
A |
6: 37,935,494 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
T |
A |
11: 87,668,066 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,126,926 (GRCm39) |
L483P |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,033,999 (GRCm39) |
T508S |
probably benign |
Het |
| Vps18 |
C |
T |
2: 119,124,386 (GRCm39) |
R438C |
probably damaging |
Het |
| Zfp366 |
C |
A |
13: 99,365,474 (GRCm39) |
R212S |
probably damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,477 (GRCm39) |
C122S |
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 |
|
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'- ACTTCATGCCAACCTGCAAAGAAGG -3'
(R):5'- ATTTGCCAGGGCACTATGCACC -3'
Sequencing Primer
(F):5'- AAGGTGAATGACCCGAACC -3'
(R):5'- TCTGCCATGCTGCCAAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation