Incidental Mutation 'IGL00916:Nol10'
ID |
28722 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nol10
|
Ensembl Gene |
ENSMUSG00000061458 |
Gene Name |
nucleolar protein 10 |
Synonyms |
LOC217431 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
IGL00916
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
17398459-17480096 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 17411130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046011]
|
AlphaFold |
Q5RJG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046011
|
SMART Domains |
Protein: ENSMUSP00000035930 Gene: ENSMUSG00000061458
Domain | Start | End | E-Value | Type |
WD40
|
42 |
81 |
1.1e1 |
SMART |
Blast:WD40
|
84 |
123 |
1e-8 |
BLAST |
WD40
|
165 |
204 |
3.3e1 |
SMART |
WD40
|
223 |
257 |
4.42e1 |
SMART |
WD40
|
260 |
299 |
1.19e1 |
SMART |
WD40
|
302 |
340 |
1.97e2 |
SMART |
low complexity region
|
451 |
476 |
N/A |
INTRINSIC |
Pfam:NUC153
|
482 |
509 |
1.4e-15 |
PFAM |
low complexity region
|
515 |
536 |
N/A |
INTRINSIC |
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
coiled coil region
|
557 |
588 |
N/A |
INTRINSIC |
low complexity region
|
650 |
660 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,075,851 (GRCm39) |
Q762L |
probably benign |
Het |
Aldh1a1 |
T |
C |
19: 20,597,361 (GRCm39) |
V114A |
probably benign |
Het |
Ano4 |
T |
C |
10: 88,833,960 (GRCm39) |
I459V |
probably benign |
Het |
Atad5 |
C |
T |
11: 80,009,826 (GRCm39) |
P1199S |
probably damaging |
Het |
Bmp10 |
T |
C |
6: 87,406,142 (GRCm39) |
F43S |
possibly damaging |
Het |
Cd96 |
T |
C |
16: 45,861,675 (GRCm39) |
E505G |
probably benign |
Het |
Eapp |
T |
C |
12: 54,739,593 (GRCm39) |
T75A |
possibly damaging |
Het |
Emilin1 |
T |
C |
5: 31,071,246 (GRCm39) |
Y10H |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,284,612 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
T |
C |
11: 69,113,923 (GRCm39) |
I1089V |
possibly damaging |
Het |
H6pd |
C |
A |
4: 150,078,925 (GRCm39) |
|
probably null |
Het |
Igsf10 |
A |
T |
3: 59,238,548 (GRCm39) |
F544L |
probably damaging |
Het |
Il23r |
T |
C |
6: 67,450,915 (GRCm39) |
Y188C |
probably damaging |
Het |
Ilrun |
A |
G |
17: 27,986,893 (GRCm39) |
Y278H |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,389 (GRCm39) |
E287G |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,461,252 (GRCm39) |
D735G |
probably damaging |
Het |
Mast2 |
A |
T |
4: 116,184,830 (GRCm39) |
M240K |
possibly damaging |
Het |
Mreg |
T |
A |
1: 72,203,291 (GRCm39) |
T96S |
probably benign |
Het |
Mta2 |
A |
T |
19: 8,924,465 (GRCm39) |
M220L |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,528,719 (GRCm39) |
|
probably benign |
Het |
Naip2 |
T |
A |
13: 100,297,939 (GRCm39) |
N699I |
probably damaging |
Het |
Ncapg |
T |
G |
5: 45,828,534 (GRCm39) |
I95S |
probably benign |
Het |
Ndufa13 |
A |
G |
8: 70,347,069 (GRCm39) |
|
probably benign |
Het |
Parp8 |
T |
A |
13: 117,063,859 (GRCm39) |
I85F |
probably damaging |
Het |
Rgs2 |
T |
A |
1: 143,877,967 (GRCm39) |
I78F |
probably damaging |
Het |
Rpia |
C |
T |
6: 70,752,086 (GRCm39) |
|
probably benign |
Het |
Sec63 |
T |
C |
10: 42,688,453 (GRCm39) |
S488P |
possibly damaging |
Het |
Tfcp2 |
T |
G |
15: 100,418,559 (GRCm39) |
H201P |
probably damaging |
Het |
Tnfaip2 |
T |
G |
12: 111,419,983 (GRCm39) |
I705R |
probably damaging |
Het |
Ttf1 |
A |
G |
2: 28,960,054 (GRCm39) |
N554S |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,940,877 (GRCm39) |
S351P |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,737,397 (GRCm39) |
N264Y |
probably damaging |
Het |
|
Other mutations in Nol10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1769:Nol10
|
UTSW |
12 |
17,466,709 (GRCm39) |
splice site |
probably benign |
|
R1884:Nol10
|
UTSW |
12 |
17,418,390 (GRCm39) |
critical splice donor site |
probably null |
|
R1930:Nol10
|
UTSW |
12 |
17,398,555 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1931:Nol10
|
UTSW |
12 |
17,398,555 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R2010:Nol10
|
UTSW |
12 |
17,466,102 (GRCm39) |
missense |
probably benign |
0.00 |
R2037:Nol10
|
UTSW |
12 |
17,411,152 (GRCm39) |
missense |
probably benign |
0.01 |
R2168:Nol10
|
UTSW |
12 |
17,423,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R3729:Nol10
|
UTSW |
12 |
17,474,674 (GRCm39) |
missense |
probably benign |
0.42 |
R3731:Nol10
|
UTSW |
12 |
17,474,674 (GRCm39) |
missense |
probably benign |
0.42 |
R4368:Nol10
|
UTSW |
12 |
17,429,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R4618:Nol10
|
UTSW |
12 |
17,398,562 (GRCm39) |
missense |
probably damaging |
0.98 |
R4736:Nol10
|
UTSW |
12 |
17,405,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:Nol10
|
UTSW |
12 |
17,419,621 (GRCm39) |
splice site |
probably null |
|
R5451:Nol10
|
UTSW |
12 |
17,409,103 (GRCm39) |
nonsense |
probably null |
|
R5536:Nol10
|
UTSW |
12 |
17,466,138 (GRCm39) |
nonsense |
probably null |
|
R5586:Nol10
|
UTSW |
12 |
17,466,829 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6045:Nol10
|
UTSW |
12 |
17,398,479 (GRCm39) |
start gained |
probably benign |
|
R6833:Nol10
|
UTSW |
12 |
17,402,728 (GRCm39) |
missense |
probably benign |
0.03 |
R7039:Nol10
|
UTSW |
12 |
17,479,185 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7189:Nol10
|
UTSW |
12 |
17,423,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7251:Nol10
|
UTSW |
12 |
17,452,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R7399:Nol10
|
UTSW |
12 |
17,452,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R7600:Nol10
|
UTSW |
12 |
17,419,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R7650:Nol10
|
UTSW |
12 |
17,412,683 (GRCm39) |
critical splice donor site |
probably null |
|
R7729:Nol10
|
UTSW |
12 |
17,474,676 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7772:Nol10
|
UTSW |
12 |
17,398,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7869:Nol10
|
UTSW |
12 |
17,408,239 (GRCm39) |
missense |
probably null |
0.93 |
R7972:Nol10
|
UTSW |
12 |
17,402,648 (GRCm39) |
missense |
probably benign |
0.15 |
R8686:Nol10
|
UTSW |
12 |
17,419,772 (GRCm39) |
intron |
probably benign |
|
R8926:Nol10
|
UTSW |
12 |
17,466,871 (GRCm39) |
missense |
probably benign |
0.00 |
R8936:Nol10
|
UTSW |
12 |
17,466,863 (GRCm39) |
missense |
probably benign |
0.08 |
R8966:Nol10
|
UTSW |
12 |
17,419,507 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8994:Nol10
|
UTSW |
12 |
17,402,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R9002:Nol10
|
UTSW |
12 |
17,408,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R9096:Nol10
|
UTSW |
12 |
17,466,199 (GRCm39) |
missense |
probably benign |
|
R9196:Nol10
|
UTSW |
12 |
17,455,316 (GRCm39) |
missense |
probably benign |
0.04 |
R9548:Nol10
|
UTSW |
12 |
17,466,144 (GRCm39) |
missense |
possibly damaging |
0.49 |
Z1177:Nol10
|
UTSW |
12 |
17,409,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2013-04-17 |