Incidental Mutation 'R6842:Utp6'
| ID |
533916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp6
|
| Ensembl Gene |
ENSMUSG00000035575 |
| Gene Name |
UTP6 small subunit processome component |
| Synonyms |
HCA66, 4732497O03Rik |
| MMRRC Submission |
044948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R6842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
79824782-79853213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79831775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 504
(S504N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043152]
[ENSMUST00000108241]
|
| AlphaFold |
Q8VCY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043152
AA Change: S504N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: S504N
| 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 benign
Transcript: ENSMUST00000108241
AA Change: S504N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: S504N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,432 (GRCm39) |
N69S |
probably benign |
Het |
| Adgrl3 |
C |
T |
5: 81,888,927 (GRCm39) |
A1042V |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,807,416 (GRCm39) |
V660A |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,604,461 (GRCm39) |
H395L |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,358,863 (GRCm39) |
I307T |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,800,101 (GRCm39) |
S381P |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,965 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc127 |
T |
C |
13: 74,505,088 (GRCm39) |
I212T |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,132,979 (GRCm39) |
V91A |
probably benign |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,402,952 (GRCm39) |
F2347L |
possibly damaging |
Het |
| Ddx19a |
A |
G |
8: 111,705,257 (GRCm39) |
V288A |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,928 (GRCm39) |
E53G |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,553,988 (GRCm39) |
I217N |
probably damaging |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,536 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,275 (GRCm39) |
I6N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,439,781 (GRCm39) |
L128P |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,563 (GRCm39) |
S24F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,269,465 (GRCm39) |
D591E |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,888 (GRCm39) |
I254F |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,085,866 (GRCm39) |
M5V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,175,481 (GRCm39) |
D312G |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,107,917 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Oas1g |
T |
C |
5: 121,025,621 (GRCm39) |
E2G |
probably benign |
Het |
| Ocm |
T |
A |
5: 143,962,509 (GRCm39) |
I6F |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,268,401 (GRCm39) |
D373N |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,576 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,093 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,885 (GRCm39) |
N230S |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,215,640 (GRCm39) |
D419G |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,612,612 (GRCm39) |
I194F |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,074,940 (GRCm39) |
C47S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,868 (GRCm39) |
S534P |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,979 (GRCm39) |
V452A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,467,320 (GRCm39) |
V1177A |
probably benign |
Het |
| Tgfbr1 |
T |
C |
4: 47,383,757 (GRCm39) |
C32R |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,983 (GRCm39) |
N801S |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,708,532 (GRCm39) |
S114A |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,866 (GRCm39) |
E425G |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,940,763 (GRCm39) |
T374I |
possibly 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 |
|
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 |
|
|
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'- CACAGGAGTTCAGCAGTAGC -3'
(R):5'- TCACTCCAAGCTGAGGCATG -3'
Sequencing Primer
(F):5'- CCATTCTTAGCAGCTCTATGGAAAAG -3'
(R):5'- AGGCATGGGACTGGCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation