Incidental Mutation 'IGL01687:Nol11'
ID |
103989 |
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 # |
IGL01687
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
107057489-107080207 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107077695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 65
(I65M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018577]
[ENSMUST00000106757]
|
AlphaFold |
Q8BJW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018577
AA Change: I65M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000018577 Gene: ENSMUSG00000018433 AA Change: I65M
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 damaging
Transcript: ENSMUST00000106757
AA Change: I65M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102368 Gene: ENSMUSG00000018433 AA Change: I65M
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: ENSMUST00000119942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136917
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139168
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,306,769 (GRCm39) |
|
probably benign |
Het |
Cep290 |
C |
T |
10: 100,336,067 (GRCm39) |
T375M |
probably damaging |
Het |
Col1a2 |
A |
T |
6: 4,520,258 (GRCm39) |
R348* |
probably null |
Het |
Dph6 |
A |
T |
2: 114,475,259 (GRCm39) |
Y85* |
probably null |
Het |
Etl4 |
C |
T |
2: 20,534,898 (GRCm39) |
H118Y |
probably damaging |
Het |
Gprc5b |
A |
G |
7: 118,583,209 (GRCm39) |
F220S |
possibly damaging |
Het |
Larp4 |
A |
G |
15: 99,894,369 (GRCm39) |
T213A |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,617,515 (GRCm39) |
|
probably benign |
Het |
Myo5a |
T |
C |
9: 75,063,531 (GRCm39) |
V579A |
probably benign |
Het |
Or2k2 |
A |
T |
4: 58,785,047 (GRCm39) |
L225Q |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,707,982 (GRCm39) |
|
probably benign |
Het |
Prss30 |
T |
C |
17: 24,194,106 (GRCm39) |
T17A |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,257,243 (GRCm39) |
V396A |
probably benign |
Het |
Tns3 |
A |
G |
11: 8,442,798 (GRCm39) |
S522P |
probably damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,473,574 (GRCm39) |
V484E |
possibly damaging |
Het |
Zfp871 |
T |
A |
17: 32,994,618 (GRCm39) |
T167S |
probably benign |
Het |
Zmat3 |
C |
T |
3: 32,395,680 (GRCm39) |
E276K |
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 |
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 |
IGL03395:Nol11
|
APN |
11 |
107,066,548 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
2014-01-21 |