Incidental Mutation 'IGL02076:Utp25'
| ID |
283360 |
| 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: 0.970)
|
| Stock # |
IGL02076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 192812367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 31
(H31R)
|
| 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: H31R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: H31R
| 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: ENSMUST00000194335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195291
AA Change: H31R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: H31R
| 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 damaging
Transcript: ENSMUST00000195848
AA Change: H31R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,950 (GRCm39) |
K276* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
| Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,009,812 (GRCm39) |
L99P |
probably damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
| Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
| Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,708,370 (GRCm39) |
T229I |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
| Olfm1 |
A |
G |
2: 28,112,637 (GRCm39) |
T223A |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
| Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
| Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
| Slc25a1 |
A |
G |
16: 17,745,490 (GRCm39) |
C41R |
possibly damaging |
Het |
| Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,446 (GRCm39) |
F208L |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
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 |
|
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 |
|
|
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