Incidental Mutation 'R4644:Utp25'
ID |
351761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp25
|
Ensembl Gene |
ENSMUSG00000016181 |
Gene Name |
UTP25 small subunit processome component |
Synonyms |
AA408296, mDef, Diexf |
MMRRC Submission |
041905-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R4644 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 192810788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 72
(Y72H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000195291]
[ENSMUST00000195848]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085555
AA Change: Y72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082691 Gene: ENSMUSG00000016181 AA Change: Y72H
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 |
noncoding transcript
Transcript: ENSMUST00000194124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194335
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195291
AA Change: Y72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141676 Gene: ENSMUSG00000016181 AA Change: Y72H
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195848
|
Meta Mutation Damage Score |
0.1323 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cflar |
T |
A |
1: 58,770,426 (GRCm39) |
I173N |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Klhdc4 |
G |
C |
8: 122,548,739 (GRCm39) |
|
probably benign |
Het |
Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nsmaf |
A |
G |
4: 6,419,940 (GRCm39) |
|
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,823,015 (GRCm39) |
K17R |
probably benign |
Het |
Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
Semp2l2b |
A |
G |
10: 21,942,660 (GRCm39) |
V440A |
probably benign |
Het |
Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
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 |
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 |
|
R8042:Utp25
|
UTSW |
1 |
192,796,980 (GRCm39) |
missense |
|
|
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'- ACGTTCCTGTGTCTCAGCAG -3'
(R):5'- CGGGTTTCCTAAGGACTTTTCCAG -3'
Sequencing Primer
(F):5'- TCCGAGACAGCAGCTTCTC -3'
(R):5'- AAATCTAGTTTCCTTGTGCAAGAG -3'
|
Posted On |
2015-10-08 |