Incidental Mutation 'R6048:Nol8'
ID |
483410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol8
|
Ensembl Gene |
ENSMUSG00000021392 |
Gene Name |
nucleolar protein 8 |
Synonyms |
D13Ertd548e, 4921532D18Rik, 5730412B09Rik |
MMRRC Submission |
044216-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6048 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49806554-49832492 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 49807160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
[ENSMUST00000021824]
[ENSMUST00000021824]
[ENSMUST00000221083]
[ENSMUST00000221142]
[ENSMUST00000221142]
[ENSMUST00000222197]
[ENSMUST00000222197]
[ENSMUST00000222333]
[ENSMUST00000222333]
[ENSMUST00000223467]
[ENSMUST00000223264]
|
AlphaFold |
Q3UHX0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
SMART Domains |
Protein: ENSMUSP00000021818 Gene: ENSMUSG00000021391
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000021824
|
SMART Domains |
Protein: ENSMUSP00000021824 Gene: ENSMUSG00000021392
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 null
Transcript: ENSMUST00000021824
|
SMART Domains |
Protein: ENSMUSP00000021824 Gene: ENSMUSG00000021392
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 null
Transcript: ENSMUST00000221142
|
Predicted Effect |
probably null
Transcript: ENSMUST00000221142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222197
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222197
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222333
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223467
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223264
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
98% (60/61) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a2 |
T |
C |
9: 71,169,049 (GRCm39) |
I177T |
probably damaging |
Het |
Aopep |
T |
A |
13: 63,388,139 (GRCm39) |
F39L |
probably damaging |
Het |
Arl4c |
A |
G |
1: 88,629,350 (GRCm39) |
S13P |
possibly damaging |
Het |
Bst1 |
G |
T |
5: 43,976,306 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
G |
A |
14: 55,741,302 (GRCm39) |
R1029Q |
probably benign |
Het |
Cflar |
A |
G |
1: 58,780,202 (GRCm39) |
T269A |
probably benign |
Het |
Clcnka |
T |
A |
4: 141,121,798 (GRCm39) |
Y236F |
probably damaging |
Het |
Clmp |
T |
A |
9: 40,682,405 (GRCm39) |
I63N |
probably damaging |
Het |
Cln6 |
T |
C |
9: 62,751,908 (GRCm39) |
L44P |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,718,915 (GRCm39) |
A280T |
unknown |
Het |
Dact2 |
A |
G |
17: 14,417,567 (GRCm39) |
L211P |
probably damaging |
Het |
Dclk2 |
G |
T |
3: 86,813,272 (GRCm39) |
Q225K |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,453,616 (GRCm39) |
F1245S |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,835,259 (GRCm39) |
K3540E |
unknown |
Het |
Eif3i |
T |
C |
4: 129,487,145 (GRCm39) |
N240S |
probably benign |
Het |
Enpp1 |
T |
C |
10: 24,536,152 (GRCm39) |
Y416C |
probably damaging |
Het |
Epb42 |
T |
A |
2: 120,854,889 (GRCm39) |
R565S |
probably benign |
Het |
Eral1 |
G |
A |
11: 77,966,609 (GRCm39) |
P217L |
probably benign |
Het |
Fbxl16 |
A |
G |
17: 26,035,967 (GRCm39) |
Y188C |
probably benign |
Het |
Fgd3 |
G |
A |
13: 49,427,224 (GRCm39) |
P503S |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,340,062 (GRCm39) |
L785P |
probably benign |
Het |
Gadl1 |
A |
G |
9: 115,835,769 (GRCm39) |
|
probably null |
Het |
Gm10787 |
C |
T |
10: 76,857,676 (GRCm39) |
|
noncoding transcript |
Het |
Gm6563 |
A |
G |
19: 23,653,246 (GRCm39) |
K12R |
probably benign |
Het |
Grm5 |
T |
C |
7: 87,675,758 (GRCm39) |
L424P |
probably damaging |
Het |
H2ac11 |
A |
G |
13: 22,227,006 (GRCm39) |
V31A |
probably benign |
Het |
Il17re |
T |
C |
6: 113,447,069 (GRCm39) |
S607P |
possibly damaging |
Het |
Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
Itih1 |
A |
G |
14: 30,651,780 (GRCm39) |
M854T |
possibly damaging |
Het |
Kif1b |
A |
G |
4: 149,348,086 (GRCm39) |
L315P |
probably damaging |
Het |
Ms4a6b |
T |
C |
19: 11,497,734 (GRCm39) |
V11A |
possibly damaging |
Het |
Mxd1 |
C |
A |
6: 86,627,966 (GRCm39) |
D191Y |
probably damaging |
Het |
Ntn4 |
T |
A |
10: 93,543,128 (GRCm39) |
|
probably null |
Het |
Nxph1 |
A |
T |
6: 9,247,103 (GRCm39) |
T25S |
probably benign |
Het |
Or1n1 |
A |
G |
2: 36,749,853 (GRCm39) |
V169A |
probably benign |
Het |
Or2bd2 |
A |
C |
7: 6,443,354 (GRCm39) |
T152P |
possibly damaging |
Het |
Or3a1 |
A |
T |
11: 74,225,961 (GRCm39) |
I32K |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,526 (GRCm39) |
N7S |
probably benign |
Het |
Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,695 (GRCm39) |
F79L |
possibly damaging |
Het |
Oxsm |
T |
A |
14: 16,242,308 (GRCm38) |
M154L |
possibly damaging |
Het |
Papolg |
A |
C |
11: 23,841,815 (GRCm39) |
I36S |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,107,502 (GRCm39) |
H544Q |
probably benign |
Het |
Pdzd2 |
A |
T |
15: 12,592,656 (GRCm39) |
|
probably null |
Het |
Prkce |
C |
A |
17: 86,800,775 (GRCm39) |
P397Q |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,276,765 (GRCm39) |
S492G |
possibly damaging |
Het |
Rnf216 |
A |
G |
5: 143,054,659 (GRCm39) |
Y630H |
probably damaging |
Het |
Ruvbl1 |
C |
T |
6: 88,459,973 (GRCm39) |
T211I |
possibly damaging |
Het |
Scyl2 |
A |
T |
10: 89,481,348 (GRCm39) |
D666E |
probably benign |
Het |
Sertad2 |
A |
G |
11: 20,598,436 (GRCm39) |
T211A |
probably benign |
Het |
Sipa1l1 |
A |
T |
12: 82,487,643 (GRCm39) |
Q1639L |
probably benign |
Het |
Snx5 |
T |
C |
2: 144,101,073 (GRCm39) |
D98G |
probably damaging |
Het |
Sorcs2 |
G |
T |
5: 36,185,332 (GRCm39) |
|
probably null |
Het |
Spmip2 |
T |
C |
3: 79,313,192 (GRCm39) |
S89P |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tmem132d |
A |
G |
5: 128,346,181 (GRCm39) |
S114P |
probably benign |
Het |
Tns2 |
G |
A |
15: 102,019,846 (GRCm39) |
G579R |
probably damaging |
Het |
Usp37 |
A |
T |
1: 74,517,295 (GRCm39) |
|
probably null |
Het |
Vmn1r79 |
T |
C |
7: 11,910,448 (GRCm39) |
I110T |
probably damaging |
Het |
Vps37a |
C |
T |
8: 40,981,363 (GRCm39) |
L69F |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,338,587 (GRCm39) |
I276N |
possibly damaging |
Het |
Zfp946 |
G |
A |
17: 22,673,821 (GRCm39) |
E192K |
probably benign |
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 |
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'- GCTACCAAGAAGGGGTACACTG -3'
(R):5'- CGCTGTTAAATCACAAAGACGG -3'
Sequencing Primer
(F):5'- GAAGGAGACAGCCAACTT -3'
(R):5'- ACCTAAAATATGTTTCCCCACTGTG -3'
|
Posted On |
2017-07-14 |