Incidental Mutation 'IGL03395:Nol11'
ID |
421213 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nol11
|
Ensembl Gene |
ENSMUSG00000018433 |
Gene Name |
nucleolar protein 11 |
Synonyms |
1500002M01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.933)
|
Stock # |
IGL03395
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
107057489-107080207 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107066548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 414
(V414A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018577]
[ENSMUST00000106757]
|
AlphaFold |
Q8BJW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018577
AA Change: V414A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000018577 Gene: ENSMUSG00000018433 AA Change: V414A
Domain | Start | End | E-Value | Type |
SCOP:d1jmxb_
|
32 |
176 |
3e-3 |
SMART |
Pfam:NUC205
|
200 |
243 |
3.7e-26 |
PFAM |
low complexity region
|
619 |
629 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106757
AA Change: V414A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102368 Gene: ENSMUSG00000018433 AA Change: V414A
Domain | Start | End | E-Value | Type |
SCOP:d1jmxb_
|
32 |
176 |
3e-3 |
SMART |
Pfam:NUC205
|
200 |
243 |
7.3e-29 |
PFAM |
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117751
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136917
|
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 |
Adam11 |
A |
G |
11: 102,663,746 (GRCm39) |
D308G |
probably damaging |
Het |
Adgrg3 |
A |
T |
8: 95,761,701 (GRCm39) |
I155F |
probably damaging |
Het |
Ado |
T |
C |
10: 67,384,368 (GRCm39) |
Y79C |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,107,884 (GRCm39) |
|
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,528,734 (GRCm39) |
D165E |
probably damaging |
Het |
Ccdc124 |
A |
C |
8: 71,321,251 (GRCm39) |
M163R |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,479,304 (GRCm39) |
|
probably benign |
Het |
Cenpq |
A |
G |
17: 41,234,449 (GRCm39) |
L247P |
probably damaging |
Het |
Crat |
A |
G |
2: 30,294,978 (GRCm39) |
V479A |
probably benign |
Het |
Egfr |
T |
C |
11: 16,860,261 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
Emc9 |
C |
T |
14: 55,822,197 (GRCm39) |
A72T |
probably benign |
Het |
Fbxo5 |
G |
A |
10: 5,751,935 (GRCm39) |
S226F |
probably benign |
Het |
Gm42688 |
A |
C |
6: 83,085,352 (GRCm39) |
E737D |
possibly damaging |
Het |
Got1l1 |
G |
T |
8: 27,690,885 (GRCm39) |
H54Q |
probably benign |
Het |
Grid2 |
G |
A |
6: 63,886,053 (GRCm39) |
V150I |
possibly damaging |
Het |
Klc4 |
C |
T |
17: 46,943,789 (GRCm39) |
V506M |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,754,495 (GRCm39) |
N90S |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,681,617 (GRCm39) |
|
probably null |
Het |
Mbd6 |
G |
A |
10: 127,119,286 (GRCm39) |
R950C |
probably damaging |
Het |
Or7e178 |
A |
T |
9: 20,225,847 (GRCm39) |
M123K |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,272,325 (GRCm39) |
E177G |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,614,262 (GRCm39) |
D396E |
probably benign |
Het |
Pcyt2 |
A |
T |
11: 120,503,876 (GRCm39) |
|
probably null |
Het |
Pds5a |
T |
C |
5: 65,809,792 (GRCm39) |
D390G |
possibly damaging |
Het |
Pik3r2 |
T |
C |
8: 71,224,999 (GRCm39) |
T155A |
probably benign |
Het |
Rab31 |
T |
A |
17: 66,003,362 (GRCm39) |
H95L |
probably benign |
Het |
Rfx5 |
C |
T |
3: 94,865,113 (GRCm39) |
R259* |
probably null |
Het |
Slc6a17 |
T |
C |
3: 107,384,622 (GRCm39) |
D285G |
probably damaging |
Het |
Spats2l |
A |
T |
1: 57,977,175 (GRCm39) |
I318F |
probably damaging |
Het |
Spef1l |
G |
T |
7: 139,556,589 (GRCm39) |
|
probably benign |
Het |
Tcf12 |
A |
G |
9: 71,783,304 (GRCm39) |
S361P |
probably damaging |
Het |
|
Other mutations in Nol11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00646:Nol11
|
APN |
11 |
107,064,286 (GRCm39) |
missense |
probably benign |
|
IGL01656:Nol11
|
APN |
11 |
107,079,998 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01687:Nol11
|
APN |
11 |
107,077,695 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02179:Nol11
|
APN |
11 |
107,080,082 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02538:Nol11
|
APN |
11 |
107,064,199 (GRCm39) |
missense |
probably benign |
0.02 |
R0526:Nol11
|
UTSW |
11 |
107,075,597 (GRCm39) |
nonsense |
probably null |
|
R1734:Nol11
|
UTSW |
11 |
107,066,449 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2143:Nol11
|
UTSW |
11 |
107,071,881 (GRCm39) |
missense |
probably benign |
0.03 |
R2385:Nol11
|
UTSW |
11 |
107,080,032 (GRCm39) |
missense |
probably benign |
0.40 |
R3036:Nol11
|
UTSW |
11 |
107,064,070 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3522:Nol11
|
UTSW |
11 |
107,064,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3895:Nol11
|
UTSW |
11 |
107,059,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Nol11
|
UTSW |
11 |
107,064,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Nol11
|
UTSW |
11 |
107,071,826 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4705:Nol11
|
UTSW |
11 |
107,075,544 (GRCm39) |
intron |
probably benign |
|
R5704:Nol11
|
UTSW |
11 |
107,064,195 (GRCm39) |
missense |
probably benign |
0.43 |
R5991:Nol11
|
UTSW |
11 |
107,061,971 (GRCm39) |
missense |
probably benign |
0.02 |
R6221:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6222:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6223:Nol11
|
UTSW |
11 |
107,062,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6285:Nol11
|
UTSW |
11 |
107,071,860 (GRCm39) |
missense |
probably benign |
0.01 |
R6467:Nol11
|
UTSW |
11 |
107,071,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7080:Nol11
|
UTSW |
11 |
107,070,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R7679:Nol11
|
UTSW |
11 |
107,064,142 (GRCm39) |
missense |
probably benign |
0.00 |
R7767:Nol11
|
UTSW |
11 |
107,069,908 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8831:Nol11
|
UTSW |
11 |
107,067,662 (GRCm39) |
missense |
probably benign |
|
R9063:Nol11
|
UTSW |
11 |
107,069,857 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9063:Nol11
|
UTSW |
11 |
107,064,240 (GRCm39) |
missense |
probably benign |
0.04 |
R9329:Nol11
|
UTSW |
11 |
107,071,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Nol11
|
UTSW |
11 |
107,064,505 (GRCm39) |
missense |
probably benign |
0.29 |
R9473:Nol11
|
UTSW |
11 |
107,075,581 (GRCm39) |
missense |
probably null |
0.81 |
R9515:Nol11
|
UTSW |
11 |
107,064,278 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9771:Nol11
|
UTSW |
11 |
107,069,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |