Incidental Mutation 'R5321:Utp18'
| ID |
406117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp18
|
| Ensembl Gene |
ENSMUSG00000054079 |
| Gene Name |
UTP18 small subunit processome component |
| Synonyms |
Wdr50, 6230425C22Rik |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
93750069-93776592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93757260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 468
(L468P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066888]
|
| AlphaFold |
Q5SSI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066888
AA Change: L468P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: L468P
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACACACTACTATTCTGTTATCAC -3'
(R):5'- AATTGAAAAGCTGCTCGGCC -3'
Sequencing Primer
(F):5'- GTTATCACTCACTGTTTTAACATGAC -3'
(R):5'- CGCGTTGAATTCTTCAGCCATTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation