Incidental Mutation 'IGL02061:Utp18'
| ID |
185397 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Utp18
|
| Ensembl Gene |
ENSMUSG00000054079 |
| Gene Name |
UTP18 small subunit processome component |
| Synonyms |
Wdr50, 6230425C22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
93750069-93776592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93772967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 158
(D158G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000066888]
[ENSMUST00000107850]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
| AlphaFold |
Q5SSI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063645
|
| SMART Domains |
Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
52 |
74 |
7e-6 |
PDB |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
MBT
|
144 |
248 |
3.11e-22 |
SMART |
|
MBT
|
256 |
357 |
1.28e-41 |
SMART |
|
MBT
|
361 |
459 |
1.61e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063718
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
74 |
96 |
7e-6 |
PDB |
|
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
|
MBT
|
166 |
270 |
3.11e-22 |
SMART |
|
MBT
|
278 |
379 |
1.28e-41 |
SMART |
|
MBT
|
383 |
481 |
1.61e-38 |
SMART |
|
MBT
|
489 |
585 |
4.11e-54 |
SMART |
|
low complexity region
|
586 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066888
AA Change: D158G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: D158G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
WD40
|
236 |
275 |
7.4e0 |
SMART |
|
WD40
|
280 |
320 |
3.08e0 |
SMART |
|
Blast:WD40
|
325 |
365 |
4e-17 |
BLAST |
|
WD40
|
368 |
406 |
2.23e-1 |
SMART |
|
WD40
|
409 |
449 |
1.78e0 |
SMART |
|
WD40
|
458 |
499 |
2.05e1 |
SMART |
|
WD40
|
510 |
545 |
7.92e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107850
|
| SMART Domains |
Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
Blast:MBT
|
25 |
52 |
2e-9 |
BLAST |
|
PDB:2W0T|A
|
52 |
74 |
2e-6 |
PDB |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
PDB:4C5I|B
|
131 |
201 |
5e-37 |
PDB |
|
Blast:MBT
|
144 |
201 |
1e-35 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107853
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
52 |
74 |
1e-6 |
PDB |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
MBT
|
144 |
248 |
1.2e-24 |
SMART |
|
MBT
|
256 |
357 |
4.8e-44 |
SMART |
|
MBT
|
361 |
459 |
6.1e-41 |
SMART |
|
MBT
|
467 |
563 |
1.6e-56 |
SMART |
|
low complexity region
|
564 |
592 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107854
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
52 |
74 |
1e-6 |
PDB |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
MBT
|
144 |
248 |
1.2e-24 |
SMART |
|
MBT
|
256 |
357 |
4.9e-44 |
SMART |
|
MBT
|
361 |
459 |
6.2e-41 |
SMART |
|
MBT
|
467 |
563 |
1.6e-56 |
SMART |
|
low complexity region
|
564 |
592 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140880
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
probably damaging |
Het |
|
| Other mutations in Utp18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Utp18
|
APN |
11 |
93,760,674 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02402:Utp18
|
APN |
11 |
93,774,617 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02552:Utp18
|
APN |
11 |
93,759,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03086:Utp18
|
APN |
11 |
93,766,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Utp18
|
APN |
11 |
93,759,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03281:Utp18
|
APN |
11 |
93,766,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Utp18
|
UTSW |
11 |
93,766,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0281:Utp18
|
UTSW |
11 |
93,773,003 (GRCm39) |
unclassified |
probably benign |
|
|
R0399:Utp18
|
UTSW |
11 |
93,770,973 (GRCm39) |
splice site |
probably benign |
|
|
R0543:Utp18
|
UTSW |
11 |
93,766,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Utp18
|
UTSW |
11 |
93,776,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1674:Utp18
|
UTSW |
11 |
93,766,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2013:Utp18
|
UTSW |
11 |
93,766,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4426:Utp18
|
UTSW |
11 |
93,757,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4427:Utp18
|
UTSW |
11 |
93,757,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4455:Utp18
|
UTSW |
11 |
93,776,273 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4458:Utp18
|
UTSW |
11 |
93,761,359 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5085:Utp18
|
UTSW |
11 |
93,761,363 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5297:Utp18
|
UTSW |
11 |
93,766,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5321:Utp18
|
UTSW |
11 |
93,757,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Utp18
|
UTSW |
11 |
93,776,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6845:Utp18
|
UTSW |
11 |
93,776,582 (GRCm39) |
unclassified |
probably benign |
|
|
R7211:Utp18
|
UTSW |
11 |
93,776,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7330:Utp18
|
UTSW |
11 |
93,772,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8193:Utp18
|
UTSW |
11 |
93,766,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Utp18
|
UTSW |
11 |
93,768,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Utp18
|
UTSW |
11 |
93,776,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Utp18
|
UTSW |
11 |
93,766,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation