Incidental Mutation 'RF021:Utp25'
| ID |
603860 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF021 (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 192802974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 248
(F248L)
|
| 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: F248L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: F248L
| 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: ENSMUST00000195291
AA Change: F248L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: F248L
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
91% (50/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,817,471 (GRCm39) |
H79R |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,159,273 (GRCm39) |
E826V |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,630,905 (GRCm39) |
V224A |
probably benign |
Het |
| Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,078,156 (GRCm39) |
A515V |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,734,785 (GRCm39) |
F402S |
possibly damaging |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,854,971 (GRCm39) |
V2016F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,542,290 (GRCm39) |
|
probably null |
Het |
| Efhd2 |
GCC |
GCCGCCCCC |
4: 141,602,084 (GRCm39) |
|
probably benign |
Het |
| Fam131a |
A |
C |
16: 20,513,690 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,283,218 (GRCm39) |
V186A |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,089,554 (GRCm39) |
I333L |
probably benign |
Het |
| Gstp1 |
A |
T |
19: 4,085,507 (GRCm39) |
V200E |
probably benign |
Het |
| Gtf2h1 |
T |
G |
7: 46,453,289 (GRCm39) |
V74G |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,712,750 (GRCm39) |
D138G |
possibly damaging |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,586,372 (GRCm39) |
T912A |
probably damaging |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 92,925,602 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,810,744 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
C |
3: 58,980,711 (GRCm39) |
F359S |
probably benign |
Het |
| Mmut |
A |
G |
17: 41,262,649 (GRCm39) |
I444V |
probably benign |
Het |
| Ncoa2 |
CTTAAAA |
C |
1: 13,219,333 (GRCm39) |
|
probably benign |
Het |
| Ngp |
A |
G |
9: 110,250,824 (GRCm39) |
T114A |
possibly damaging |
Het |
| Nlrc5 |
A |
T |
8: 95,203,516 (GRCm39) |
T539S |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,673 (GRCm39) |
D190G |
probably damaging |
Het |
| Or6c2b |
A |
T |
10: 128,948,211 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,341 (GRCm39) |
M81L |
probably benign |
Het |
| Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,609,956 (GRCm39) |
H563Y |
probably damaging |
Het |
| Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
C |
T |
14: 30,949,798 (GRCm39) |
H660Y |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,954,440 (GRCm39) |
V31E |
probably damaging |
Het |
| Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,608,397 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
A |
T |
3: 138,918,011 (GRCm39) |
|
probably null |
Het |
| Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
| Tbcb |
C |
T |
7: 29,923,771 (GRCm39) |
V208M |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,030 (GRCm39) |
Q2169L |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,674,060 (GRCm39) |
M42T |
probably benign |
Het |
| Trdc |
T |
C |
14: 54,381,660 (GRCm39) |
V115A |
|
Het |
| Ttbk2 |
A |
G |
2: 120,579,115 (GRCm39) |
V669A |
probably benign |
Het |
| Tusc1 |
GCC |
GCCACCACC |
4: 93,223,553 (GRCm39) |
|
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,280,129 (GRCm39) |
H118R |
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,661,587 (GRCm39) |
C286* |
probably null |
Het |
| Zbed4 |
C |
A |
15: 88,665,439 (GRCm39) |
Y502* |
probably null |
Het |
| Zdbf2 |
T |
A |
1: 63,341,811 (GRCm39) |
N63K |
possibly 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 |
|
|
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 |
|
|
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'- ACATGGCGGACTTCTTCTCC -3'
(R):5'- TGTAACTGTTGTCTGGACCCTC -3'
Sequencing Primer
(F):5'- AGTCCTCTCAGGGTAGAACAGGTC -3'
(R):5'- CCCTCTTGCCTGTGTGAGAGAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation