Incidental Mutation 'R2376:Utp6'
| ID |
248284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp6
|
| Ensembl Gene |
ENSMUSG00000035575 |
| Gene Name |
UTP6 small subunit processome component |
| Synonyms |
HCA66, 4732497O03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R2376 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
79824782-79853213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 79846439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 181
(E181Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043152]
[ENSMUST00000108241]
|
| AlphaFold |
Q8VCY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043152
AA Change: E181Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: E181Q
| 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 |
probably damaging
Transcript: ENSMUST00000108241
AA Change: E181Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: E181Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000146127
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,889,812 (GRCm39) |
V254E |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| Ankrd13d |
T |
A |
19: 4,322,623 (GRCm39) |
I350F |
possibly damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,414 (GRCm39) |
M232T |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,356,734 (GRCm39) |
V134A |
probably damaging |
Het |
| Catsperz |
A |
T |
19: 6,902,266 (GRCm39) |
L76H |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,941,658 (GRCm39) |
V17A |
probably benign |
Het |
| Hrob |
A |
G |
11: 102,141,542 (GRCm39) |
D14G |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,217,695 (GRCm39) |
|
probably null |
Het |
| Myh9 |
G |
T |
15: 77,667,617 (GRCm39) |
D605E |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,959,950 (GRCm39) |
A3515T |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,909 (GRCm39) |
K389R |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,430 (GRCm39) |
V2138I |
probably benign |
Het |
| Pou4f2 |
T |
G |
8: 79,162,814 (GRCm39) |
S74R |
unknown |
Het |
| Ptpn21 |
A |
T |
12: 98,654,573 (GRCm39) |
M798K |
possibly damaging |
Het |
| Rhag |
G |
T |
17: 41,122,254 (GRCm39) |
|
probably null |
Het |
| Vcan |
G |
T |
13: 89,851,529 (GRCm39) |
Q1144K |
possibly damaging |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,785 (GRCm39) |
V47D |
probably damaging |
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 |
|
|
IGL02889:Utp6
|
APN |
11 |
79,839,896 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCATAAAGCACCCCTGAG -3'
(R):5'- CTCACTTTAGATGGAGTTGTCAAAC -3'
Sequencing Primer
(F):5'- CCCTGAGAAAATAAAGTACGCAG -3'
(R):5'- GATGGAGTTGTCAAACTTACCATTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation