Incidental Mutation 'IGL02185:Nol9'
| ID |
283597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nol9
|
| Ensembl Gene |
ENSMUSG00000028948 |
| Gene Name |
nucleolar protein 9 |
| Synonyms |
6030462G04Rik, 4632412I24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL02185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152123778-152145951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152142368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 666
(I666N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084116]
[ENSMUST00000103197]
|
| AlphaFold |
Q3TZX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084116
AA Change: I666N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: I666N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:CLP1_P
|
322 |
480 |
7.5e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103197
AA Change: I666N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: I666N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
316 |
429 |
5.9e-18 |
PFAM |
|
Pfam:Clp1
|
425 |
665 |
1.9e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105663
|
| SMART Domains |
Protein: ENSMUSP00000101288
Gene: ENSMUSG00000028948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
Pfam:MobB
|
316 |
429 |
5.3e-18 |
PFAM |
|
Pfam:Clp1
|
425 |
627 |
5.8e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131696
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,815 (GRCm39) |
D167G |
probably benign |
Het |
| C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
| Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
| Eloa |
A |
G |
4: 135,740,290 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
| Ifrd2 |
A |
T |
9: 107,468,290 (GRCm39) |
I253F |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
| Lcp1 |
T |
C |
14: 75,466,740 (GRCm39) |
F616L |
possibly damaging |
Het |
| Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
| Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,533,714 (GRCm39) |
T186A |
probably benign |
Het |
| Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
| Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
| Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
| Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
| Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
| Ulk2 |
C |
T |
11: 61,672,886 (GRCm39) |
A903T |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
| Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
| Other mutations in Nol9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Nol9
|
APN |
4 |
152,136,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00774:Nol9
|
APN |
4 |
152,136,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00885:Nol9
|
APN |
4 |
152,126,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01125:Nol9
|
APN |
4 |
152,131,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01368:Nol9
|
APN |
4 |
152,142,848 (GRCm39) |
missense |
probably benign |
|
|
IGL01759:Nol9
|
APN |
4 |
152,130,500 (GRCm39) |
intron |
probably benign |
|
|
IGL01983:Nol9
|
APN |
4 |
152,130,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02869:Nol9
|
APN |
4 |
152,131,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Nol9
|
APN |
4 |
152,125,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0401:Nol9
|
UTSW |
4 |
152,137,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3721:Nol9
|
UTSW |
4 |
152,124,163 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4429:Nol9
|
UTSW |
4 |
152,125,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4460:Nol9
|
UTSW |
4 |
152,142,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Nol9
|
UTSW |
4 |
152,136,552 (GRCm39) |
intron |
probably benign |
|
|
R5137:Nol9
|
UTSW |
4 |
152,130,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Nol9
|
UTSW |
4 |
152,135,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6190:Nol9
|
UTSW |
4 |
152,125,691 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6317:Nol9
|
UTSW |
4 |
152,125,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Nol9
|
UTSW |
4 |
152,130,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Nol9
|
UTSW |
4 |
152,123,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6551:Nol9
|
UTSW |
4 |
152,136,325 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6580:Nol9
|
UTSW |
4 |
152,136,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Nol9
|
UTSW |
4 |
152,124,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8143:Nol9
|
UTSW |
4 |
152,125,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9018:Nol9
|
UTSW |
4 |
152,123,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9428:Nol9
|
UTSW |
4 |
152,124,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9578:Nol9
|
UTSW |
4 |
152,125,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation