Incidental Mutation 'IGL01983:Nol9'
ID |
183543 |
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 # |
IGL01983
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
152123778-152145951 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 152130494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084116]
[ENSMUST00000103197]
|
AlphaFold |
Q3TZX8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084116
|
SMART Domains |
Protein: ENSMUSP00000081133 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:CLP1_P
|
322 |
480 |
7.5e-37 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103197
|
SMART Domains |
Protein: ENSMUSP00000099486 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 |
5.9e-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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147797
|
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 |
Acadl |
G |
A |
1: 66,880,783 (GRCm39) |
Q328* |
probably null |
Het |
Alpk2 |
T |
C |
18: 65,483,753 (GRCm39) |
Y85C |
probably damaging |
Het |
Arhgap31 |
C |
T |
16: 38,422,127 (GRCm39) |
R1313Q |
probably damaging |
Het |
Chrnb1 |
G |
T |
11: 69,686,555 (GRCm39) |
R22S |
probably benign |
Het |
Clec7a |
G |
A |
6: 129,442,539 (GRCm39) |
|
probably benign |
Het |
Cyrib |
A |
G |
15: 63,809,236 (GRCm39) |
S251P |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,506,814 (GRCm39) |
|
probably benign |
Het |
Hdac1-ps |
T |
A |
17: 78,800,282 (GRCm39) |
D424E |
probably benign |
Het |
Hydin |
A |
C |
8: 111,241,527 (GRCm39) |
I2106L |
probably benign |
Het |
Igkv3-5 |
T |
A |
6: 70,640,670 (GRCm39) |
D50E |
probably benign |
Het |
Irf2bp1 |
G |
T |
7: 18,739,220 (GRCm39) |
A287S |
possibly damaging |
Het |
Ldb3 |
G |
A |
14: 34,299,156 (GRCm39) |
S156L |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,751,440 (GRCm39) |
W942R |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,475 (GRCm39) |
V1218D |
probably damaging |
Het |
Naxd |
G |
T |
8: 11,560,218 (GRCm39) |
|
probably benign |
Het |
Nus1 |
T |
A |
10: 52,312,753 (GRCm39) |
L295Q |
probably damaging |
Het |
Nxph2 |
A |
G |
2: 23,289,946 (GRCm39) |
I99M |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,895,904 (GRCm39) |
I432N |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,240,974 (GRCm39) |
L69S |
probably damaging |
Het |
Pram1 |
C |
A |
17: 33,859,835 (GRCm39) |
A134D |
probably damaging |
Het |
Serpinb6c |
T |
A |
13: 34,081,317 (GRCm39) |
|
probably benign |
Het |
Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
Tbc1d10c |
T |
A |
19: 4,240,708 (GRCm39) |
Q34L |
possibly damaging |
Het |
Tnr |
G |
A |
1: 159,691,349 (GRCm39) |
V500I |
probably benign |
Het |
Trim66 |
G |
A |
7: 109,057,458 (GRCm39) |
R992* |
probably null |
Het |
Unc45b |
A |
G |
11: 82,827,687 (GRCm39) |
D728G |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,971,608 (GRCm39) |
D696G |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,545,525 (GRCm39) |
V1707I |
probably benign |
Het |
Vmn2r96 |
A |
T |
17: 18,817,527 (GRCm39) |
H368L |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,855,421 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
C |
A |
8: 109,673,866 (GRCm39) |
L1639M |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,898,270 (GRCm39) |
V218E |
probably damaging |
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 |
|
IGL02185:Nol9
|
APN |
4 |
152,142,368 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |