Incidental Mutation 'R4455:Utp18'
| ID |
329158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp18
|
| Ensembl Gene |
ENSMUSG00000054079 |
| Gene Name |
UTP18 small subunit processome component |
| Synonyms |
Wdr50, 6230425C22Rik |
| MMRRC Submission |
041715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R4455 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93750069-93776592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93776273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 71
(R71C)
|
| 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: R71C
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: R71C
| 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: ENSMUST00000130797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145354
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,851,479 (GRCm39) |
E248G |
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,394 (GRCm39) |
N134I |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
| Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,663,020 (GRCm39) |
P610S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
| H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
| Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
| Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,014 (GRCm39) |
M752V |
probably benign |
Het |
| Prune1 |
G |
A |
3: 95,189,207 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
| Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACATCCTTTGGCAAACC -3'
(R):5'- CACATGCGCAGTGGTACTCC -3'
Sequencing Primer
(F):5'- CAAGCCGACAGTTGAGCG -3'
(R):5'- CGAACGCAAGAGCCGGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation