Incidental Mutation 'R8042:Utp25'
ID |
618561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp25
|
Ensembl Gene |
ENSMUSG00000016181 |
Gene Name |
UTP25 small subunit processome component |
Synonyms |
AA408296, mDef, Diexf |
MMRRC Submission |
067479-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R8042 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 192796980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1
(V1A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000193460]
[ENSMUST00000195291]
|
AlphaFold |
no structure available at present |
Predicted Effect |
silent
Transcript: ENSMUST00000085555
|
SMART Domains |
Protein: ENSMUSP00000082691 Gene: ENSMUSG00000016181
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
72 |
113 |
N/A |
INTRINSIC |
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
low complexity region
|
217 |
224 |
N/A |
INTRINSIC |
Pfam:UTP25
|
288 |
763 |
6.1e-200 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000193460
|
SMART Domains |
Protein: ENSMUSP00000142059 Gene: ENSMUSG00000016181
Domain | Start | End | E-Value | Type |
Pfam:DUF1253
|
1 |
205 |
6.8e-78 |
PFAM |
|
Predicted Effect |
|
Predicted Effect |
silent
Transcript: ENSMUST00000195291
|
SMART Domains |
Protein: ENSMUSP00000141676 Gene: ENSMUSG00000016181
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
72 |
113 |
N/A |
INTRINSIC |
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
low complexity region
|
217 |
224 |
N/A |
INTRINSIC |
Pfam:DUF1253
|
325 |
634 |
6.9e-100 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,002,233 (GRCm39) |
Y1582C |
possibly damaging |
Het |
Acly |
A |
G |
11: 100,405,151 (GRCm39) |
I339T |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,012,696 (GRCm39) |
V541A |
probably benign |
Het |
Arhgef3 |
T |
A |
14: 27,084,766 (GRCm39) |
V45D |
possibly damaging |
Het |
Azi2 |
C |
A |
9: 117,891,165 (GRCm39) |
Q397K |
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,611,445 (GRCm39) |
S451* |
probably null |
Het |
Cacna2d3 |
A |
T |
14: 28,826,995 (GRCm39) |
|
probably benign |
Het |
Cep85l |
A |
G |
10: 53,224,759 (GRCm39) |
Y277H |
probably damaging |
Het |
Cep97 |
C |
A |
16: 55,731,965 (GRCm39) |
V608L |
probably benign |
Het |
Crb1 |
T |
A |
1: 139,242,392 (GRCm39) |
Y362F |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,920,669 (GRCm39) |
|
probably benign |
Het |
Dnah14 |
T |
C |
1: 181,471,196 (GRCm39) |
|
probably null |
Het |
Dock4 |
T |
C |
12: 40,795,759 (GRCm39) |
F859L |
probably benign |
Het |
Errfi1 |
T |
C |
4: 150,950,914 (GRCm39) |
F114S |
possibly damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,108 (GRCm39) |
I150F |
probably damaging |
Het |
Loxhd1 |
C |
T |
18: 77,518,888 (GRCm39) |
T1898M |
probably damaging |
Het |
Lrrc9 |
A |
T |
12: 72,507,680 (GRCm39) |
T394S |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,838,673 (GRCm39) |
E1115G |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,917,753 (GRCm39) |
S552G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,123,203 (GRCm39) |
Y263* |
probably null |
Het |
Moxd2 |
T |
C |
6: 40,862,301 (GRCm39) |
I173V |
probably benign |
Het |
Mrc2 |
T |
C |
11: 105,239,181 (GRCm39) |
V1312A |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,097,429 (GRCm39) |
I465F |
probably damaging |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nt5dc1 |
T |
C |
10: 34,273,210 (GRCm39) |
D196G |
probably benign |
Het |
Obscn |
T |
C |
11: 58,931,143 (GRCm39) |
D5028G |
possibly damaging |
Het |
Pabpc1 |
A |
G |
15: 36,598,553 (GRCm39) |
F447S |
probably benign |
Het |
Pcsk6 |
T |
G |
7: 65,577,683 (GRCm39) |
N201K |
possibly damaging |
Het |
Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,393,881 (GRCm39) |
T850A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,332,480 (GRCm39) |
D2564G |
|
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sec24a |
T |
C |
11: 51,595,144 (GRCm39) |
T939A |
probably benign |
Het |
Serpine1 |
A |
T |
5: 137,095,855 (GRCm39) |
L242H |
probably benign |
Het |
Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
Slc6a6 |
A |
C |
6: 91,718,226 (GRCm39) |
I347L |
probably benign |
Het |
Spns2 |
A |
T |
11: 72,345,003 (GRCm39) |
L495H |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,596,409 (GRCm39) |
|
probably null |
Het |
Syt12 |
C |
A |
19: 4,503,852 (GRCm39) |
V260F |
probably damaging |
Het |
Tdrd7 |
T |
A |
4: 45,987,516 (GRCm39) |
S50T |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,264 (GRCm39) |
V39E |
probably damaging |
Het |
Tmem147 |
T |
A |
7: 30,427,978 (GRCm39) |
S75C |
probably damaging |
Het |
Tnpo2 |
C |
T |
8: 85,778,188 (GRCm39) |
P564S |
probably damaging |
Het |
Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,819,010 (GRCm39) |
L327S |
probably damaging |
Het |
|
Other mutations in Utp25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00754:Utp25
|
APN |
1 |
192,797,309 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01700:Utp25
|
APN |
1 |
192,800,573 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02076:Utp25
|
APN |
1 |
192,812,367 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02121:Utp25
|
APN |
1 |
192,800,586 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02666:Utp25
|
APN |
1 |
192,789,904 (GRCm39) |
nonsense |
probably null |
|
IGL02997:Utp25
|
APN |
1 |
192,802,892 (GRCm39) |
missense |
probably benign |
0.34 |
3-1:Utp25
|
UTSW |
1 |
192,800,588 (GRCm39) |
missense |
probably benign |
0.07 |
R0099:Utp25
|
UTSW |
1 |
192,810,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Utp25
|
UTSW |
1 |
192,805,984 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0502:Utp25
|
UTSW |
1 |
192,797,136 (GRCm39) |
splice site |
probably benign |
|
R0973:Utp25
|
UTSW |
1 |
192,797,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R0973:Utp25
|
UTSW |
1 |
192,797,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R0974:Utp25
|
UTSW |
1 |
192,797,011 (GRCm39) |
missense |
probably damaging |
0.98 |
R1815:Utp25
|
UTSW |
1 |
192,800,591 (GRCm39) |
missense |
probably benign |
0.26 |
R1930:Utp25
|
UTSW |
1 |
192,800,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Utp25
|
UTSW |
1 |
192,800,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Utp25
|
UTSW |
1 |
192,804,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Utp25
|
UTSW |
1 |
192,810,759 (GRCm39) |
missense |
probably benign |
0.41 |
R2848:Utp25
|
UTSW |
1 |
192,810,759 (GRCm39) |
missense |
probably benign |
0.41 |
R3412:Utp25
|
UTSW |
1 |
192,810,810 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3414:Utp25
|
UTSW |
1 |
192,810,810 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4471:Utp25
|
UTSW |
1 |
192,812,445 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4627:Utp25
|
UTSW |
1 |
192,790,003 (GRCm39) |
missense |
probably benign |
0.00 |
R4644:Utp25
|
UTSW |
1 |
192,810,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R4761:Utp25
|
UTSW |
1 |
192,796,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Utp25
|
UTSW |
1 |
192,810,575 (GRCm39) |
missense |
probably benign |
|
R4793:Utp25
|
UTSW |
1 |
192,796,116 (GRCm39) |
missense |
probably null |
0.56 |
R4858:Utp25
|
UTSW |
1 |
192,796,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Utp25
|
UTSW |
1 |
192,797,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R5162:Utp25
|
UTSW |
1 |
192,796,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5347:Utp25
|
UTSW |
1 |
192,810,687 (GRCm39) |
missense |
probably benign |
|
R5837:Utp25
|
UTSW |
1 |
192,800,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Utp25
|
UTSW |
1 |
192,811,810 (GRCm39) |
missense |
probably null |
0.01 |
R6455:Utp25
|
UTSW |
1 |
192,810,684 (GRCm39) |
missense |
probably benign |
0.07 |
R6563:Utp25
|
UTSW |
1 |
192,800,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R6636:Utp25
|
UTSW |
1 |
192,796,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R7018:Utp25
|
UTSW |
1 |
192,797,163 (GRCm39) |
missense |
probably benign |
0.06 |
R7037:Utp25
|
UTSW |
1 |
192,803,031 (GRCm39) |
splice site |
probably null |
|
R8027:Utp25
|
UTSW |
1 |
192,800,530 (GRCm39) |
missense |
probably benign |
|
R8092:Utp25
|
UTSW |
1 |
192,802,671 (GRCm39) |
missense |
probably benign |
0.00 |
R8243:Utp25
|
UTSW |
1 |
192,796,937 (GRCm39) |
missense |
probably benign |
|
R8691:Utp25
|
UTSW |
1 |
192,796,110 (GRCm39) |
missense |
probably benign |
0.41 |
R9485:Utp25
|
UTSW |
1 |
192,812,541 (GRCm39) |
unclassified |
probably benign |
|
RF021:Utp25
|
UTSW |
1 |
192,802,974 (GRCm39) |
missense |
probably benign |
|
X0050:Utp25
|
UTSW |
1 |
192,806,040 (GRCm39) |
missense |
probably benign |
0.23 |
Z1177:Utp25
|
UTSW |
1 |
192,796,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTCCTTCTCTGTCAAGGGCC -3'
(R):5'- GTGTTCAACAAGCACTGCATC -3'
Sequencing Primer
(F):5'- TCAAGGGCCTGGCTGAGTTC -3'
(R):5'- CATCAATGCTCAAGGCCAGGTG -3'
|
Posted On |
2020-01-23 |