Incidental Mutation 'R2380:Utp6'
| ID |
248436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp6
|
| Ensembl Gene |
ENSMUSG00000035575 |
| Gene Name |
UTP6 small subunit processome component |
| Synonyms |
HCA66, 4732497O03Rik |
| MMRRC Submission |
040356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R2380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79824782-79853213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79826831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 582
(S582P)
|
| 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: S582P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046643
Gene: ENSMUSG00000035575
AA Change: S582P
| 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: S582P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103876
Gene: ENSMUSG00000035575
AA Change: S582P
| 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: ENSMUST00000131921
|
| Meta Mutation Damage Score |
0.3422 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
| Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
| Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
| Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
| Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
| Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
| Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
| Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
| Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
| Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
|
|
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 |
|
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'- AGCAGTACTCATTTCTGGAACCAAAG -3'
(R):5'- ATGTGCGGAAGTTTCTCAGAAC -3'
Sequencing Primer
(F):5'- TTTCTGGAACCAAAGATTAACACC -3'
(R):5'- GCGGAAGTTTCTCAGAACTTTTTAAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation