Incidental Mutation 'R0042:Utp18'
| ID |
15529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp18
|
| Ensembl Gene |
ENSMUSG00000054079 |
| Gene Name |
UTP18 small subunit processome component |
| Synonyms |
Wdr50, 6230425C22Rik |
| MMRRC Submission |
038336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R0042 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93750069-93776592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93766684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 309
(T309K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066888]
|
| AlphaFold |
Q5SSI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066888
AA Change: T309K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: T309K
| 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 |
noncoding transcript
Transcript: ENSMUST00000130797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134807
|
| Meta Mutation Damage Score |
0.7863 |
| Coding Region Coverage |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
| Validation Efficiency |
94% (58/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
| Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
| Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
| Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
| H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
| Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,557,966 (GRCm39) |
T787A |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,831,187 (GRCm39) |
|
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
| Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
| Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
| Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
| Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
A |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Tmod4 |
T |
C |
3: 95,037,099 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
| Vps11 |
G |
T |
9: 44,267,588 (GRCm39) |
Y341* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly 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 |
|
IGL02061:Utp18
|
APN |
11 |
93,772,967 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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 |
2012-12-21 |
Incidental Mutation