Incidental Mutation 'R5465:Utp6'
| ID |
433215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp6
|
| Ensembl Gene |
ENSMUSG00000035575 |
| Gene Name |
UTP6 small subunit processome component |
| Synonyms |
HCA66, 4732497O03Rik |
| MMRRC Submission |
043026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R5465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
79824782-79853213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79839836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 284
(I284N)
|
| 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: I284N
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: I284N
| 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: I284N
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: I284N
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp1 |
T |
C |
7: 30,136,277 (GRCm39) |
D500G |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,629,493 (GRCm39) |
G4R |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,864,333 (GRCm39) |
V302I |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,438 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
T |
C |
3: 54,953,065 (GRCm39) |
H234R |
probably benign |
Het |
| Cplx2 |
G |
A |
13: 54,527,352 (GRCm39) |
E79K |
possibly damaging |
Het |
| Dnai4 |
T |
A |
4: 102,906,758 (GRCm39) |
D685V |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,775 (GRCm39) |
I380T |
probably damaging |
Het |
| Gpr162 |
A |
T |
6: 124,838,134 (GRCm39) |
V172D |
probably damaging |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,565 (GRCm39) |
F191V |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,418,862 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,658,255 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,506 (GRCm39) |
S2203P |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,654 (GRCm39) |
L867Q |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,746 (GRCm39) |
F656L |
probably damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,052 (GRCm39) |
I146T |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,852 (GRCm39) |
K299R |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,783 (GRCm39) |
I235F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,463,924 (GRCm39) |
S1395P |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,325 (GRCm39) |
T412N |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,291 (GRCm39) |
M240L |
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,407,254 (GRCm39) |
T895I |
probably damaging |
Het |
| Slx4ip |
T |
G |
2: 136,846,867 (GRCm39) |
L44R |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,800,133 (GRCm39) |
Q2196K |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,885 (GRCm39) |
S454L |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,556 (GRCm39) |
H840R |
probably benign |
Het |
| Usp47 |
C |
T |
7: 111,658,209 (GRCm39) |
T176M |
probably damaging |
Het |
| Vcpip1 |
T |
C |
1: 9,817,372 (GRCm39) |
H337R |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- CTTCTCTACTAGGGGCTGAACTC -3'
(R):5'- ATGCCACAGTGCAGAACAG -3'
Sequencing Primer
(F):5'- TCAGGGCACAGTCACAGTCAG -3'
(R):5'- CTCTTGTGTTACTGCAGCTGTAAAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation