Incidental Mutation 'R3414:Utp25'
ID |
266711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp25
|
Ensembl Gene |
ENSMUSG00000016181 |
Gene Name |
UTP25 small subunit processome component |
Synonyms |
AA408296, mDef, Diexf |
MMRRC Submission |
040632-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R3414 (G1)
|
Quality Score |
186 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 192810810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 64
(S64R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000195291]
[ENSMUST00000195848]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085555
AA Change: S64R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082691 Gene: ENSMUSG00000016181 AA Change: S64R
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 |
possibly damaging
Transcript: ENSMUST00000195291
AA Change: S64R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141676 Gene: ENSMUSG00000016181 AA Change: S64R
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 |
0.0710 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
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 |
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 |
|
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'- TACGTTCCTGTGTCTCAGCAG -3'
(R):5'- CGGGTTTCCTAAGGACTTTTCCAG -3'
Sequencing Primer
(F):5'- TCCGAGACAGCAGCTTCTC -3'
(R):5'- AAATCTAGTTTCCTTGTGCAAGAG -3'
|
Posted On |
2015-02-18 |