Incidental Mutation 'R3412:Utp25'
ID |
267750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp25
|
Ensembl Gene |
ENSMUSG00000016181 |
Gene Name |
UTP25 small subunit processome component |
Synonyms |
AA408296, mDef, Diexf |
MMRRC Submission |
040630-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R3412 (G1)
|
Quality Score |
204 |
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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
T |
C |
13: 8,802,654 (GRCm39) |
F643S |
probably damaging |
Het |
Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,724 (GRCm39) |
I492V |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,415,545 (GRCm39) |
|
probably benign |
Het |
Duxf4 |
G |
A |
10: 58,072,175 (GRCm39) |
T13I |
possibly damaging |
Het |
Esp24 |
T |
A |
17: 39,349,207 (GRCm39) |
I11N |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,242,910 (GRCm39) |
E41G |
probably damaging |
Het |
Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
Gria4 |
T |
A |
9: 4,513,278 (GRCm39) |
D277V |
probably benign |
Het |
Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
Krt90 |
T |
A |
15: 101,469,028 (GRCm39) |
L171F |
probably damaging |
Het |
Mthfd1 |
A |
G |
12: 76,350,523 (GRCm39) |
|
probably null |
Het |
Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
Or5an1c |
T |
C |
19: 12,218,954 (GRCm39) |
I24V |
probably benign |
Het |
Or6c1b |
A |
T |
10: 129,273,176 (GRCm39) |
D165V |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,810,351 (GRCm39) |
D10G |
probably benign |
Het |
Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,714,146 (GRCm39) |
D1108G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,336,724 (GRCm39) |
T2369A |
probably benign |
Het |
Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
Tex9 |
C |
A |
9: 72,385,040 (GRCm39) |
Q265H |
possibly damaging |
Het |
Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,004,479 (GRCm39) |
|
probably benign |
Het |
Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
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 |
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 |
|
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'- TTACGTTCCTGTGTCTCAGCAG -3'
(R):5'- GGGTTTCCTAAGGACTTTTCCAG -3'
Sequencing Primer
(F):5'- TCCGAGACAGCAGCTTCTC -3'
(R):5'- AAATCTAGTTTCCTTGTGCAAGAG -3'
|
Posted On |
2015-02-18 |