Incidental Mutation 'IGL02889:Utp6'
ID |
363110 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Utp6
|
Ensembl Gene |
ENSMUSG00000035575 |
Gene Name |
UTP6 small subunit processome component |
Synonyms |
HCA66, 4732497O03Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
IGL02889
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
79824782-79853213 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79839896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 264
(Q264L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043152]
[ENSMUST00000108241]
|
AlphaFold |
Q8VCY6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043152
AA Change: Q264L
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046643 Gene: ENSMUSG00000035575 AA Change: Q264L
Domain | Start | End | E-Value | Type |
Blast:HAT
|
25 |
63 |
5e-11 |
BLAST |
HAT
|
87 |
119 |
6.33e2 |
SMART |
HAT
|
121 |
153 |
5.54e-1 |
SMART |
HAT
|
156 |
188 |
2.41e-1 |
SMART |
HAT
|
305 |
336 |
4.13e0 |
SMART |
Blast:HAT
|
350 |
382 |
1e-11 |
BLAST |
Blast:HAT
|
418 |
451 |
2e-9 |
BLAST |
Blast:HAT
|
454 |
487 |
3e-12 |
BLAST |
HAT
|
489 |
521 |
8.05e0 |
SMART |
HAT
|
525 |
558 |
9.13e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108241
AA Change: Q264L
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103876 Gene: ENSMUSG00000035575 AA Change: Q264L
Domain | Start | End | E-Value | Type |
Blast:HAT
|
25 |
63 |
5e-11 |
BLAST |
HAT
|
87 |
119 |
6.33e2 |
SMART |
HAT
|
121 |
153 |
5.54e-1 |
SMART |
HAT
|
156 |
188 |
2.41e-1 |
SMART |
HAT
|
305 |
336 |
4.13e0 |
SMART |
Blast:HAT
|
350 |
382 |
1e-11 |
BLAST |
Blast:HAT
|
418 |
451 |
2e-9 |
BLAST |
Blast:HAT
|
454 |
487 |
3e-12 |
BLAST |
HAT
|
489 |
521 |
8.05e0 |
SMART |
HAT
|
525 |
558 |
9.13e-2 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
Amdhd2 |
A |
G |
17: 24,376,761 (GRCm39) |
L308P |
probably damaging |
Het |
Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
Arg1 |
A |
T |
10: 24,791,653 (GRCm39) |
M276K |
probably damaging |
Het |
Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
Btnl9 |
A |
T |
11: 49,069,604 (GRCm39) |
V225E |
probably damaging |
Het |
Col1a1 |
T |
C |
11: 94,842,335 (GRCm39) |
Y1418H |
unknown |
Het |
Ct45a |
C |
A |
X: 55,592,551 (GRCm39) |
K19N |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,554,581 (GRCm39) |
I1162K |
possibly damaging |
Het |
Dmgdh |
T |
C |
13: 93,852,185 (GRCm39) |
|
probably null |
Het |
Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
Fli1 |
A |
G |
9: 32,376,992 (GRCm39) |
I92T |
probably damaging |
Het |
Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
Glp1r |
T |
A |
17: 31,150,118 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Ifitm3 |
C |
T |
7: 140,589,792 (GRCm39) |
R87Q |
probably damaging |
Het |
Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
Itgb4 |
T |
A |
11: 115,879,731 (GRCm39) |
C628S |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,878,443 (GRCm39) |
D402V |
possibly damaging |
Het |
Kcnh3 |
A |
T |
15: 99,124,991 (GRCm39) |
E147V |
probably null |
Het |
Krtap19-4 |
T |
C |
16: 88,681,944 (GRCm39) |
Y4C |
unknown |
Het |
Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
Sebox |
T |
C |
11: 78,395,156 (GRCm39) |
V166A |
probably benign |
Het |
Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
Tbx4 |
T |
A |
11: 85,790,621 (GRCm39) |
Y154* |
probably null |
Het |
Trim24 |
G |
A |
6: 37,934,696 (GRCm39) |
E768K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,562,304 (GRCm39) |
V28847A |
possibly damaging |
Het |
Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
Wnt11 |
G |
A |
7: 98,499,566 (GRCm39) |
A244T |
probably damaging |
Het |
Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Utp6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Utp6
|
APN |
11 |
79,846,531 (GRCm39) |
nonsense |
probably null |
|
IGL03028:Utp6
|
APN |
11 |
79,844,450 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03040:Utp6
|
APN |
11 |
79,826,939 (GRCm39) |
splice site |
probably benign |
|
IGL03084:Utp6
|
APN |
11 |
79,853,042 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03236:Utp6
|
APN |
11 |
79,851,567 (GRCm39) |
splice site |
probably benign |
|
PIT4382001:Utp6
|
UTSW |
11 |
79,853,099 (GRCm39) |
missense |
probably benign |
0.02 |
R0082:Utp6
|
UTSW |
11 |
79,844,457 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0140:Utp6
|
UTSW |
11 |
79,847,551 (GRCm39) |
splice site |
probably benign |
|
R0962:Utp6
|
UTSW |
11 |
79,832,694 (GRCm39) |
splice site |
probably benign |
|
R1485:Utp6
|
UTSW |
11 |
79,839,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2376:Utp6
|
UTSW |
11 |
79,846,439 (GRCm39) |
missense |
probably damaging |
0.99 |
R2380:Utp6
|
UTSW |
11 |
79,826,831 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4065:Utp6
|
UTSW |
11 |
79,837,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5465:Utp6
|
UTSW |
11 |
79,839,836 (GRCm39) |
missense |
probably benign |
0.08 |
R5774:Utp6
|
UTSW |
11 |
79,844,424 (GRCm39) |
missense |
probably benign |
|
R6842:Utp6
|
UTSW |
11 |
79,831,775 (GRCm39) |
missense |
probably benign |
0.00 |
R7507:Utp6
|
UTSW |
11 |
79,833,012 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7793:Utp6
|
UTSW |
11 |
79,828,556 (GRCm39) |
missense |
probably benign |
0.00 |
R8349:Utp6
|
UTSW |
11 |
79,836,610 (GRCm39) |
missense |
probably benign |
0.00 |
R8449:Utp6
|
UTSW |
11 |
79,836,610 (GRCm39) |
missense |
probably benign |
0.00 |
R8856:Utp6
|
UTSW |
11 |
79,842,455 (GRCm39) |
missense |
probably benign |
0.12 |
R8930:Utp6
|
UTSW |
11 |
79,834,055 (GRCm39) |
critical splice donor site |
probably null |
|
R8932:Utp6
|
UTSW |
11 |
79,834,055 (GRCm39) |
critical splice donor site |
probably null |
|
R9282:Utp6
|
UTSW |
11 |
79,826,851 (GRCm39) |
missense |
probably benign |
0.12 |
Z1176:Utp6
|
UTSW |
11 |
79,826,788 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Utp6
|
UTSW |
11 |
79,832,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |