Incidental Mutation 'IGL02666:Utp25'
| ID |
302732 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Utp25
|
| Ensembl Gene |
ENSMUSG00000016181 |
| Gene Name |
UTP25 small subunit processome component |
| Synonyms |
AA408296, mDef, Diexf |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL02666
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 192789904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 752
(Q752*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000193460]
[ENSMUST00000195291]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085555
AA Change: Q752*
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: Q752*
| 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: ENSMUST00000193070
|
| 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
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230109A22Rik |
T |
C |
15: 25,138,944 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
G |
A |
7: 119,934,431 (GRCm39) |
V136M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,645,148 (GRCm39) |
I382T |
probably benign |
Het |
| Cux1 |
C |
A |
5: 136,304,169 (GRCm39) |
E1336* |
probably null |
Het |
| Cyb5r3 |
T |
C |
15: 83,044,554 (GRCm39) |
I155V |
probably damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,314 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dld |
T |
C |
12: 31,382,408 (GRCm39) |
N465S |
probably null |
Het |
| Dnmbp |
A |
G |
19: 43,842,566 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,818,111 (GRCm39) |
H1580R |
probably benign |
Het |
| Drd3 |
C |
A |
16: 43,637,319 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
G |
T |
11: 42,420,322 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
T |
C |
5: 105,242,141 (GRCm39) |
|
probably null |
Het |
| Inhba |
A |
T |
13: 16,201,664 (GRCm39) |
I409F |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,764,564 (GRCm39) |
N1560S |
probably damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,606 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,678,938 (GRCm39) |
F434L |
probably damaging |
Het |
| Klra1 |
A |
G |
6: 130,341,278 (GRCm39) |
C232R |
probably damaging |
Het |
| Krt18 |
T |
A |
15: 101,938,302 (GRCm39) |
I175N |
probably damaging |
Het |
| Lck |
A |
G |
4: 129,450,212 (GRCm39) |
V178A |
probably damaging |
Het |
| Mroh4 |
C |
A |
15: 74,481,624 (GRCm39) |
G737V |
probably benign |
Het |
| Mug2 |
A |
C |
6: 122,058,285 (GRCm39) |
L1282F |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,832,187 (GRCm39) |
N2572S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,834,695 (GRCm39) |
|
probably benign |
Het |
| Nxph3 |
G |
T |
11: 95,401,834 (GRCm39) |
H193Q |
possibly damaging |
Het |
| Or5b97 |
G |
T |
19: 12,878,221 (GRCm39) |
H308N |
probably benign |
Het |
| Orm2 |
A |
G |
4: 63,283,970 (GRCm39) |
T198A |
possibly damaging |
Het |
| Pom121 |
T |
C |
5: 135,415,686 (GRCm39) |
I397V |
unknown |
Het |
| Prex1 |
C |
A |
2: 166,414,909 (GRCm39) |
E1313D |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,145,378 (GRCm39) |
|
probably benign |
Het |
| Prl2a1 |
A |
T |
13: 27,990,310 (GRCm39) |
K86N |
possibly damaging |
Het |
| Ptpro |
G |
A |
6: 137,355,057 (GRCm39) |
S188N |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,209 (GRCm39) |
I1100F |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,719,188 (GRCm39) |
M4406I |
unknown |
Het |
| Sdf4 |
T |
A |
4: 156,093,281 (GRCm39) |
Y204* |
probably null |
Het |
| Serinc1 |
A |
T |
10: 57,400,089 (GRCm39) |
|
probably null |
Het |
| Slc39a5 |
C |
T |
10: 128,234,324 (GRCm39) |
R193H |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,689,888 (GRCm39) |
K36R |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,123 (GRCm39) |
L25I |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,686,766 (GRCm39) |
S809R |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,231,252 (GRCm39) |
R35C |
probably damaging |
Het |
| Tcaf2 |
C |
A |
6: 42,606,058 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
C |
1: 19,174,979 (GRCm39) |
D144A |
probably benign |
Het |
| Tmprss11d |
A |
T |
5: 86,479,052 (GRCm39) |
V117D |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,903,913 (GRCm39) |
D1141G |
probably benign |
Het |
| Traf6 |
A |
T |
2: 101,527,512 (GRCm39) |
T421S |
possibly damaging |
Het |
| Txndc16 |
G |
A |
14: 45,448,607 (GRCm39) |
|
probably benign |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,865 (GRCm39) |
P228T |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,433 (GRCm39) |
I784T |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,795 (GRCm39) |
D5G |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation