Incidental Mutation 'IGL01656:Nol11'
| ID |
102995 |
| 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 # |
IGL01656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
107057489-107080207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107079998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 29
(D29G)
|
| 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: D29G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: D29G
| 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: D29G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: D29G
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
C |
6: 125,030,675 (GRCm39) |
E232A |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,173 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ap5z1 |
A |
G |
5: 142,456,069 (GRCm39) |
D318G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,740,339 (GRCm39) |
E1278G |
possibly damaging |
Het |
| Cylc1 |
A |
G |
X: 110,167,485 (GRCm39) |
T589A |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,617 (GRCm39) |
I527V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,217,739 (GRCm39) |
V713I |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,613,009 (GRCm39) |
V283A |
possibly damaging |
Het |
| Elf5 |
A |
G |
2: 103,273,206 (GRCm39) |
|
probably benign |
Het |
| Flnb |
C |
T |
14: 7,902,010 (GRCm38) |
|
probably benign |
Het |
| Flnc |
C |
T |
6: 29,443,507 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,891,201 (GRCm39) |
L113P |
probably damaging |
Het |
| Gemin4 |
C |
T |
11: 76,104,636 (GRCm39) |
V42M |
probably damaging |
Het |
| Gm10076 |
A |
G |
14: 105,919,354 (GRCm39) |
|
noncoding transcript |
Het |
| Grina |
A |
G |
15: 76,132,501 (GRCm39) |
Y116C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,460,763 (GRCm39) |
L914H |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,439,934 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,478,962 (GRCm39) |
Q368* |
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,095,657 (GRCm39) |
H73R |
probably benign |
Het |
| Krt90 |
T |
A |
15: 101,463,878 (GRCm39) |
Q392L |
probably damaging |
Het |
| Magea3 |
A |
T |
X: 153,732,137 (GRCm39) |
M122K |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,137,003 (GRCm39) |
D237G |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,198,249 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,098,074 (GRCm39) |
Y853C |
noncoding transcript |
Het |
| Nr3c2 |
C |
T |
8: 77,914,166 (GRCm39) |
L791F |
probably damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,675 (GRCm39) |
V123A |
possibly damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,282 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,162,029 (GRCm39) |
P182L |
possibly damaging |
Het |
| Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,457,454 (GRCm39) |
A36V |
probably benign |
Het |
| Pklr |
G |
T |
3: 89,052,302 (GRCm39) |
G505C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,472,469 (GRCm39) |
E1071G |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,231,766 (GRCm39) |
A30S |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,641,712 (GRCm39) |
F104L |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,770 (GRCm39) |
T34I |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,351,969 (GRCm39) |
P12L |
probably damaging |
Het |
| Slc25a21 |
A |
C |
12: 56,785,280 (GRCm39) |
V199G |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,998,977 (GRCm39) |
E483G |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,993,832 (GRCm39) |
M120T |
possibly damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,396 (GRCm39) |
|
probably benign |
Het |
| Tbrg4 |
T |
A |
11: 6,568,522 (GRCm39) |
Q419L |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,615,348 (GRCm39) |
|
probably benign |
Het |
| Tgfbr2 |
A |
C |
9: 115,938,737 (GRCm39) |
S388R |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,989,274 (GRCm39) |
E71G |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,482,449 (GRCm39) |
I176K |
probably damaging |
Het |
| Xylt1 |
G |
T |
7: 117,148,228 (GRCm39) |
R264L |
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 |
|
|
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 |
|
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 |
Incidental Mutation