Incidental Mutation 'IGL03086:Utp18'
| ID |
418109 |
| 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 # |
IGL03086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
93750069-93776592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93766882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 275
(Q275R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066888]
|
| AlphaFold |
Q5SSI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066888
AA Change: Q275R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: Q275R
| 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
|
| 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 |
|---|
| Ankar |
A |
G |
1: 72,682,437 (GRCm39) |
I1158T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,621,249 (GRCm39) |
S868P |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,833,127 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
T |
7: 24,200,240 (GRCm39) |
N250Y |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,649 (GRCm39) |
E75G |
possibly damaging |
Het |
| Cdc23 |
A |
C |
18: 34,770,239 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,400,621 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,960,061 (GRCm39) |
|
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,154,788 (GRCm39) |
V73M |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,961,754 (GRCm39) |
L2297P |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,448,538 (GRCm39) |
I124V |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,960,951 (GRCm39) |
I226K |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,191,814 (GRCm39) |
Y331* |
probably null |
Het |
| Helq |
T |
C |
5: 100,944,793 (GRCm39) |
T106A |
possibly damaging |
Het |
| Ly9 |
A |
T |
1: 171,432,738 (GRCm39) |
Y92N |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,415,666 (GRCm39) |
C1256Y |
probably damaging |
Het |
| Ndc80 |
G |
A |
17: 71,827,920 (GRCm39) |
T104I |
probably benign |
Het |
| Or1x2 |
T |
A |
11: 50,918,557 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2y1d |
A |
G |
11: 49,321,632 (GRCm39) |
T110A |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,549,613 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5e1 |
A |
T |
7: 108,355,003 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,969,273 (GRCm39) |
N679S |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,911,411 (GRCm39) |
R2382K |
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,590,468 (GRCm39) |
R672Q |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,945 (GRCm39) |
N197S |
probably damaging |
Het |
| Sirpb1a |
C |
A |
3: 15,491,388 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,054,856 (GRCm39) |
D832E |
probably benign |
Het |
| Slc13a1 |
G |
A |
6: 24,118,002 (GRCm39) |
A245V |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,633 (GRCm39) |
D635G |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,058,692 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,342,338 (GRCm39) |
V36A |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation