Incidental Mutation 'R8027:Utp25'
| ID |
617749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp25
|
| Ensembl Gene |
ENSMUSG00000016181 |
| Gene Name |
UTP25 small subunit processome component |
| Synonyms |
AA408296, mDef, Diexf |
| MMRRC Submission |
067466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R8027 (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 192800530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 430
(V430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000193460]
[ENSMUST00000195291]
[ENSMUST00000195848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085555
AA Change: V430A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: V430A
| 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 |
probably benign
Transcript: ENSMUST00000193460
|
| SMART Domains |
Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1253
|
1 |
205 |
6.8e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195291
AA Change: V430A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: V430A
| 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 |
0.0777 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
T |
3: 40,888,158 (GRCm39) |
T334I |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
| Aldh5a1 |
A |
T |
13: 25,110,093 (GRCm39) |
Y147* |
probably null |
Het |
| Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,962 (GRCm39) |
L685H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
| Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,758 (GRCm39) |
T90I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
| Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
| Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
| Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
| Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
| Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
| Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
| Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
| Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,582 (GRCm39) |
M95L |
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,718 (GRCm39) |
M384V |
probably damaging |
Het |
| Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
| Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
| Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
| Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
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 |
|
|
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'- TCTGAGAAACCCAGAGATTGC -3'
(R):5'- ACTTATAGTGGTGCCCTTCCG -3'
Sequencing Primer
(F):5'- CCAGAGATTGCCTAATGTGTACC -3'
(R):5'- TTCCGGGAAGCTGCCCTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation