Incidental Mutation 'R5837:Utp25'
| ID |
449624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp25
|
| Ensembl Gene |
ENSMUSG00000016181 |
| Gene Name |
UTP25 small subunit processome component |
| Synonyms |
AA408296, mDef, Diexf |
| MMRRC Submission |
044057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 192800701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 373
(F373Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085555]
[ENSMUST00000193460]
[ENSMUST00000195291]
[ENSMUST00000195848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085555
AA Change: F373Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: F373Y
| 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: ENSMUST00000191928
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000194124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194412
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195291
AA Change: F373Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: F373Y
| 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 |
0.4850 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,594,806 (GRCm39) |
N605D |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,053,277 (GRCm39) |
M1240V |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,152,265 (GRCm39) |
I86N |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,483 (GRCm39) |
|
probably null |
Het |
| Bet1l |
C |
A |
7: 140,434,694 (GRCm39) |
R51L |
probably benign |
Het |
| Bpifa5 |
A |
G |
2: 154,005,598 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ccdc141 |
G |
T |
2: 76,938,781 (GRCm39) |
Q275K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,258,280 (GRCm39) |
H241L |
probably damaging |
Het |
| Commd7 |
A |
G |
2: 153,471,144 (GRCm39) |
V36A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,468,032 (GRCm39) |
S555N |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,959,919 (GRCm39) |
I79N |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,416,515 (GRCm39) |
S562P |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,053,865 (GRCm39) |
I1664F |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,753,926 (GRCm39) |
V277A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,221,054 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
G |
A |
15: 100,592,527 (GRCm39) |
T560M |
possibly damaging |
Het |
| Glra1 |
G |
T |
11: 55,427,333 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
C |
T |
2: 128,809,077 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,738,586 (GRCm39) |
R1459H |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,308,514 (GRCm39) |
K1048E |
probably damaging |
Het |
| Ilk |
T |
C |
7: 105,390,378 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
C |
T |
7: 30,770,208 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,374,105 (GRCm39) |
T59A |
possibly damaging |
Het |
| Lzic |
G |
T |
4: 149,570,457 (GRCm39) |
|
probably null |
Het |
| Mef2d |
A |
G |
3: 88,069,088 (GRCm39) |
T286A |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,361,839 (GRCm39) |
C4447F |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,294,930 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,071,622 (GRCm39) |
|
probably benign |
Het |
| Npl |
T |
C |
1: 153,379,271 (GRCm39) |
T271A |
probably benign |
Het |
| Nudt1 |
A |
G |
5: 140,320,295 (GRCm39) |
R25G |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,251,061 (GRCm39) |
E226G |
possibly damaging |
Het |
| Oc90 |
T |
C |
15: 65,748,295 (GRCm39) |
D405G |
probably benign |
Het |
| Or10q1b |
T |
A |
19: 13,682,324 (GRCm39) |
C44* |
probably null |
Het |
| Or1e1c |
A |
G |
11: 73,266,474 (GRCm39) |
M300V |
probably benign |
Het |
| Or5as1 |
A |
T |
2: 86,980,699 (GRCm39) |
F102Y |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,266 (GRCm39) |
L161H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,880 (GRCm39) |
I277T |
possibly damaging |
Het |
| Pcdhb9 |
C |
A |
18: 37,535,851 (GRCm39) |
A615E |
probably damaging |
Het |
| Phrf1 |
C |
G |
7: 140,839,974 (GRCm39) |
D1056E |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,704,450 (GRCm39) |
A223E |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,536,682 (GRCm39) |
I4N |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,500,403 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,140 (GRCm39) |
T37S |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,001,417 (GRCm39) |
V1169A |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,134,792 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
C |
T |
15: 97,655,223 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,341,112 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
C |
T |
1: 96,746,707 (GRCm39) |
E712K |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,316,428 (GRCm39) |
T168A |
probably benign |
Het |
| Stoml2 |
G |
T |
4: 43,028,989 (GRCm39) |
N248K |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,806,911 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
A |
4: 63,931,451 (GRCm39) |
D753V |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,722,202 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,180 (GRCm39) |
S22G |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,067,326 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,718 (GRCm39) |
T32151A |
probably damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,949 (GRCm39) |
I10T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,606,054 (GRCm39) |
F322S |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,360,300 (GRCm39) |
D35G |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,870 (GRCm39) |
H339Q |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,648 (GRCm39) |
H235L |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,442,097 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTGGTCATCAATATTGCCC -3'
(R):5'- CACGGCTACTATGGGCATTC -3'
Sequencing Primer
(F):5'- GTGGTCATCAATATTGCCCACGAAC -3'
(R):5'- GGCTACTATGGGCATTCCTTATACTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation