Incidental Mutation 'R7018:Utp25'
| ID |
545429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp25
|
| Ensembl Gene |
ENSMUSG00000016181 |
| Gene Name |
UTP25 small subunit processome component |
| Synonyms |
AA408296, mDef, Diexf |
| MMRRC Submission |
045119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
193091104-193130272 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 193114855 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 563
(I563T)
|
| 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 benign
Transcript: ENSMUST00000085555
AA Change: I563T
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: I563T
| 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
AA Change: I75T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181
AA Change: I75T
| 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: I563T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: I563T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcdd1 |
G |
T |
18: 62,937,049 (GRCm38) |
R129L |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 97,965,435 (GRCm38) |
V844I |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,288,731 (GRCm38) |
V1569A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,866,694 (GRCm38) |
S431T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 102,634,321 (GRCm38) |
D795G |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,927,971 (GRCm38) |
S85P |
probably benign |
Het |
| Dip2c |
T |
A |
13: 9,659,278 (GRCm38) |
Y1385N |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,626,944 (GRCm38) |
V840I |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,328,738 (GRCm38) |
F299L |
possibly damaging |
Het |
| Fgfr4 |
A |
T |
13: 55,166,200 (GRCm38) |
S576C |
probably damaging |
Het |
| Frmd8 |
T |
C |
19: 5,869,518 (GRCm38) |
D167G |
probably damaging |
Het |
| Gm5105 |
G |
A |
3: 138,049,558 (GRCm38) |
T89I |
unknown |
Het |
| Grhl1 |
C |
T |
12: 24,575,997 (GRCm38) |
S35L |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,293,506 (GRCm38) |
E242G |
probably benign |
Het |
| Hcrtr1 |
A |
G |
4: 130,135,868 (GRCm38) |
I140T |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,703,824 (GRCm38) |
Y208H |
possibly damaging |
Het |
| Ighv1-58 |
T |
C |
12: 115,312,365 (GRCm38) |
Y51C |
probably damaging |
Het |
| Iqcj |
T |
A |
3: 68,041,247 (GRCm38) |
Y21* |
probably null |
Het |
| Kcnc4 |
T |
C |
3: 107,458,862 (GRCm38) |
Y10C |
probably benign |
Het |
| Kcnk7 |
G |
T |
19: 5,706,132 (GRCm38) |
G129W |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 181,081,724 (GRCm38) |
R620* |
probably null |
Het |
| Klk13 |
C |
A |
7: 43,726,702 (GRCm38) |
P267Q |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,850,378 (GRCm38) |
|
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,486,943 (GRCm38) |
R314H |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,136,742 (GRCm38) |
M729L |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,743,459 (GRCm38) |
|
probably null |
Het |
| Med13l |
G |
A |
5: 118,751,986 (GRCm38) |
R1909H |
probably damaging |
Het |
| Mstn |
T |
A |
1: 53,064,084 (GRCm38) |
L193Q |
possibly damaging |
Het |
| Mylk |
T |
C |
16: 35,000,426 (GRCm38) |
V125A |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,409,821 (GRCm38) |
M547L |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 126,025,048 (GRCm38) |
S1256P |
probably damaging |
Het |
| Nkain1 |
T |
C |
4: 130,532,118 (GRCm38) |
Y189C |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,699,419 (GRCm38) |
D47E |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 37,952,502 (GRCm38) |
I174N |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 88,093,256 (GRCm38) |
I227F |
probably benign |
Het |
| Or5h25 |
A |
G |
16: 59,110,607 (GRCm38) |
M1T |
probably null |
Het |
| Or5p66 |
T |
G |
7: 108,286,344 (GRCm38) |
I261L |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,466,354 (GRCm38) |
G942W |
probably damaging |
Het |
| Pcyox1l |
C |
A |
18: 61,707,554 (GRCm38) |
|
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,708,839 (GRCm38) |
E1128G |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,264,662 (GRCm38) |
V119D |
probably damaging |
Het |
| Prss56 |
A |
T |
1: 87,185,948 (GRCm38) |
D258V |
possibly damaging |
Het |
| Ptpn23 |
T |
G |
9: 110,385,816 (GRCm38) |
K85Q |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,007,285 (GRCm38) |
S7Y |
probably benign |
Het |
| Rnf31 |
T |
C |
14: 55,592,233 (GRCm38) |
L85P |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,397,900 (GRCm38) |
C847R |
possibly damaging |
Het |
| Six4 |
T |
A |
12: 73,108,953 (GRCm38) |
E413D |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,347,415 (GRCm38) |
R161Q |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,284,421 (GRCm38) |
V1115A |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,493,444 (GRCm38) |
K401E |
unknown |
Het |
| Srbd1 |
T |
A |
17: 86,136,415 (GRCm38) |
R128W |
possibly damaging |
Het |
| Strc |
A |
T |
2: 121,369,058 (GRCm38) |
I1300N |
probably damaging |
Het |
| Susd1 |
T |
G |
4: 59,390,627 (GRCm38) |
T230P |
probably benign |
Het |
| Thumpd2 |
G |
T |
17: 81,055,897 (GRCm38) |
S47* |
probably null |
Het |
| Tmprss11a |
C |
T |
5: 86,428,570 (GRCm38) |
V141I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 79,024,853 (GRCm38) |
Y438C |
possibly damaging |
Het |
| Tnfrsf1a |
T |
C |
6: 125,356,951 (GRCm38) |
S56P |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,216,181 (GRCm38) |
W90R |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,225,762 (GRCm38) |
|
probably null |
Het |
| Zfp646 |
C |
A |
7: 127,882,322 (GRCm38) |
Q1224K |
probably benign |
Het |
|
| Other mutations in Utp25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Utp25
|
APN |
1 |
193,115,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01700:Utp25
|
APN |
1 |
193,118,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02076:Utp25
|
APN |
1 |
193,130,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02121:Utp25
|
APN |
1 |
193,118,278 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02666:Utp25
|
APN |
1 |
193,107,596 (GRCm38) |
nonsense |
probably null |
|
|
IGL02997:Utp25
|
APN |
1 |
193,120,584 (GRCm38) |
missense |
probably benign |
0.34 |
|
3-1:Utp25
|
UTSW |
1 |
193,118,280 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0099:Utp25
|
UTSW |
1 |
193,128,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0395:Utp25
|
UTSW |
1 |
193,123,676 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0502:Utp25
|
UTSW |
1 |
193,114,828 (GRCm38) |
splice site |
probably benign |
|
|
R0973:Utp25
|
UTSW |
1 |
193,114,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0973:Utp25
|
UTSW |
1 |
193,114,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0974:Utp25
|
UTSW |
1 |
193,114,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1815:Utp25
|
UTSW |
1 |
193,118,283 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1930:Utp25
|
UTSW |
1 |
193,118,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1931:Utp25
|
UTSW |
1 |
193,118,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1937:Utp25
|
UTSW |
1 |
193,122,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2847:Utp25
|
UTSW |
1 |
193,128,451 (GRCm38) |
missense |
probably benign |
0.41 |
|
R2848:Utp25
|
UTSW |
1 |
193,128,451 (GRCm38) |
missense |
probably benign |
0.41 |
|
R3412:Utp25
|
UTSW |
1 |
193,128,502 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3414:Utp25
|
UTSW |
1 |
193,128,502 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4471:Utp25
|
UTSW |
1 |
193,130,137 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4627:Utp25
|
UTSW |
1 |
193,107,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4644:Utp25
|
UTSW |
1 |
193,128,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4761:Utp25
|
UTSW |
1 |
193,113,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4791:Utp25
|
UTSW |
1 |
193,128,267 (GRCm38) |
missense |
probably benign |
|
|
R4793:Utp25
|
UTSW |
1 |
193,113,808 (GRCm38) |
missense |
probably null |
0.56 |
|
R4858:Utp25
|
UTSW |
1 |
193,113,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4944:Utp25
|
UTSW |
1 |
193,114,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5162:Utp25
|
UTSW |
1 |
193,113,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5347:Utp25
|
UTSW |
1 |
193,128,379 (GRCm38) |
missense |
probably benign |
|
|
R5837:Utp25
|
UTSW |
1 |
193,118,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6113:Utp25
|
UTSW |
1 |
193,129,502 (GRCm38) |
missense |
probably null |
0.01 |
|
R6455:Utp25
|
UTSW |
1 |
193,128,376 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6563:Utp25
|
UTSW |
1 |
193,118,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6636:Utp25
|
UTSW |
1 |
193,113,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7037:Utp25
|
UTSW |
1 |
193,120,723 (GRCm38) |
splice site |
probably null |
|
|
R8027:Utp25
|
UTSW |
1 |
193,118,222 (GRCm38) |
missense |
probably benign |
|
|
R8042:Utp25
|
UTSW |
1 |
193,114,672 (GRCm38) |
missense |
|
|
|
R8092:Utp25
|
UTSW |
1 |
193,120,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8243:Utp25
|
UTSW |
1 |
193,114,629 (GRCm38) |
missense |
probably benign |
|
|
R8691:Utp25
|
UTSW |
1 |
193,113,802 (GRCm38) |
missense |
probably benign |
0.41 |
|
R9485:Utp25
|
UTSW |
1 |
193,130,233 (GRCm38) |
unclassified |
probably benign |
|
|
RF021:Utp25
|
UTSW |
1 |
193,120,666 (GRCm38) |
missense |
probably benign |
|
|
X0050:Utp25
|
UTSW |
1 |
193,123,732 (GRCm38) |
missense |
probably benign |
0.23 |
|
Z1177:Utp25
|
UTSW |
1 |
193,114,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCACCAACACATGACTGATG -3'
(R):5'- GGGTGCTCTGCAGTCACTAATG -3'
Sequencing Primer
(F):5'- ATGACTGATGGAGCCCGTCATG -3'
(R):5'- GCTGGTATTTTGCACCAAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation