Incidental Mutation 'IGL01070:Utp18'
| ID |
52222 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Utp18
|
| Ensembl Gene |
ENSMUSG00000054079 |
| Gene Name |
UTP18 small subunit processome component |
| Synonyms |
6230425C22Rik, Wdr50 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL01070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
93859243-93885766 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93869848 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 384
(S384T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066888]
|
| AlphaFold |
Q5SSI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066888
AA Change: S384T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: S384T
| 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
|
| 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 |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,133 (GRCm38) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,865,879 (GRCm38) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,378,316 (GRCm38) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 55,942,697 (GRCm38) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,088,145 (GRCm38) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,683,022 (GRCm38) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,853,078 (GRCm38) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,564,403 (GRCm38) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,484,579 (GRCm38) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,344,093 (GRCm38) |
Y411H |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,061,997 (GRCm38) |
I78L |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,329,084 (GRCm38) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,271,272 (GRCm38) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,569,343 (GRCm38) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,306,443 (GRCm38) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,783,952 (GRCm38) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,345,238 (GRCm38) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,398,176 (GRCm38) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,383,951 (GRCm38) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,549,416 (GRCm38) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,231,601 (GRCm38) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 30,014,173 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,395,003 (GRCm38) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm38) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,220,766 (GRCm38) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,366,793 (GRCm38) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,801,590 (GRCm38) |
|
probably null |
Het |
| Vmn1r64 |
C |
A |
7: 5,883,942 (GRCm38) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,061,607 (GRCm38) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,312,268 (GRCm38) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,745,622 (GRCm38) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Utp18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02061:Utp18
|
APN |
11 |
93,882,141 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02402:Utp18
|
APN |
11 |
93,883,791 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02552:Utp18
|
APN |
11 |
93,868,334 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03086:Utp18
|
APN |
11 |
93,876,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03090:Utp18
|
APN |
11 |
93,868,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03281:Utp18
|
APN |
11 |
93,875,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0042:Utp18
|
UTSW |
11 |
93,875,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0281:Utp18
|
UTSW |
11 |
93,882,177 (GRCm38) |
unclassified |
probably benign |
|
|
R0399:Utp18
|
UTSW |
11 |
93,880,147 (GRCm38) |
splice site |
probably benign |
|
|
R0543:Utp18
|
UTSW |
11 |
93,875,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1512:Utp18
|
UTSW |
11 |
93,885,564 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1674:Utp18
|
UTSW |
11 |
93,876,053 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2013:Utp18
|
UTSW |
11 |
93,876,122 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4426:Utp18
|
UTSW |
11 |
93,866,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4427:Utp18
|
UTSW |
11 |
93,866,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4455:Utp18
|
UTSW |
11 |
93,885,447 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4458:Utp18
|
UTSW |
11 |
93,870,533 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5085:Utp18
|
UTSW |
11 |
93,870,537 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5297:Utp18
|
UTSW |
11 |
93,876,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5321:Utp18
|
UTSW |
11 |
93,866,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6006:Utp18
|
UTSW |
11 |
93,885,623 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6845:Utp18
|
UTSW |
11 |
93,885,756 (GRCm38) |
unclassified |
probably benign |
|
|
R7211:Utp18
|
UTSW |
11 |
93,885,380 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7330:Utp18
|
UTSW |
11 |
93,882,073 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8193:Utp18
|
UTSW |
11 |
93,876,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9523:Utp18
|
UTSW |
11 |
93,878,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF015:Utp18
|
UTSW |
11 |
93,885,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Utp18
|
UTSW |
11 |
93,875,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation