Incidental Mutation 'IGL02121:Utp25'
ID |
280631 |
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 # |
IGL02121
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
192786707-192812603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 192800586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 411
(D411E)
|
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 benign
Transcript: ENSMUST00000085555
AA Change: D411E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000082691 Gene: ENSMUSG00000016181 AA Change: D411E
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 benign
Transcript: ENSMUST00000195291
AA Change: D411E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000141676 Gene: ENSMUSG00000016181 AA Change: D411E
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029F12Rik |
A |
T |
13: 97,159,038 (GRCm39) |
V122D |
unknown |
Het |
4930579F01Rik |
T |
G |
3: 137,870,134 (GRCm39) |
Y199S |
possibly damaging |
Het |
Abca6 |
T |
A |
11: 110,073,750 (GRCm39) |
I1434F |
probably benign |
Het |
Acsm1 |
T |
C |
7: 119,257,635 (GRCm39) |
V467A |
possibly damaging |
Het |
Alg3 |
T |
C |
16: 20,425,285 (GRCm39) |
T260A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,254 (GRCm39) |
|
probably null |
Het |
Ap5b1 |
C |
T |
19: 5,620,815 (GRCm39) |
T745I |
possibly damaging |
Het |
Atp6v1c2 |
T |
G |
12: 17,341,441 (GRCm39) |
K272Q |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cert1 |
T |
G |
13: 96,735,982 (GRCm39) |
Y181D |
probably benign |
Het |
Clcn7 |
C |
T |
17: 25,372,058 (GRCm39) |
A426V |
possibly damaging |
Het |
Clec14a |
T |
C |
12: 58,315,223 (GRCm39) |
E133G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,267,738 (GRCm39) |
V2720E |
probably damaging |
Het |
Efr3a |
C |
T |
15: 65,742,999 (GRCm39) |
|
probably benign |
Het |
Fam83g |
T |
C |
11: 61,575,609 (GRCm39) |
S84P |
probably benign |
Het |
Gm7251 |
T |
C |
13: 49,959,382 (GRCm39) |
|
noncoding transcript |
Het |
Gnptab |
T |
G |
10: 88,265,323 (GRCm39) |
S312A |
possibly damaging |
Het |
Grap2 |
C |
A |
15: 80,532,076 (GRCm39) |
S230R |
possibly damaging |
Het |
Grm6 |
T |
A |
11: 50,750,483 (GRCm39) |
C549S |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,245,903 (GRCm39) |
L1504* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,878,172 (GRCm39) |
M899V |
probably benign |
Het |
Il1rl1 |
T |
A |
1: 40,481,463 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
T |
C |
2: 107,126,963 (GRCm39) |
Y566H |
possibly damaging |
Het |
Kcnn2 |
T |
C |
18: 45,694,340 (GRCm39) |
I175T |
probably damaging |
Het |
Kcnt1 |
C |
T |
2: 25,791,877 (GRCm39) |
T609I |
probably damaging |
Het |
Kif3b |
A |
G |
2: 153,159,194 (GRCm39) |
R332G |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,598,800 (GRCm39) |
D39G |
probably damaging |
Het |
Med12 |
T |
C |
X: 100,331,948 (GRCm39) |
|
probably benign |
Het |
Mmp1b |
G |
T |
9: 7,384,935 (GRCm39) |
T238K |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,594,897 (GRCm39) |
S1435P |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,178,157 (GRCm39) |
S418P |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,832 (GRCm39) |
V314A |
probably benign |
Het |
Or2ab1 |
T |
C |
11: 58,488,408 (GRCm39) |
V62A |
possibly damaging |
Het |
Or3a1b |
A |
G |
11: 74,012,113 (GRCm39) |
|
probably benign |
Het |
Or52a24 |
A |
G |
7: 103,381,676 (GRCm39) |
Y181C |
probably damaging |
Het |
Or52h1 |
A |
C |
7: 103,829,432 (GRCm39) |
M61R |
probably damaging |
Het |
Or6ae1 |
G |
T |
7: 139,742,607 (GRCm39) |
D85E |
probably benign |
Het |
Or8b3b |
T |
C |
9: 38,584,711 (GRCm39) |
T23A |
probably damaging |
Het |
Otoa |
A |
G |
7: 120,721,247 (GRCm39) |
T421A |
probably benign |
Het |
Otulin |
G |
A |
15: 27,608,823 (GRCm39) |
A42V |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,398,838 (GRCm39) |
V263E |
probably benign |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Phip |
A |
T |
9: 82,775,423 (GRCm39) |
V1053D |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,794,901 (GRCm39) |
R2196H |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,409,131 (GRCm39) |
Q1363L |
probably damaging |
Het |
Pp2d1 |
C |
A |
17: 53,814,949 (GRCm39) |
V592L |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,145,242 (GRCm39) |
D28G |
possibly damaging |
Het |
Prkdc |
T |
G |
16: 15,535,048 (GRCm39) |
M1649R |
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,450,931 (GRCm39) |
K12E |
probably benign |
Het |
Rars2 |
G |
A |
4: 34,657,219 (GRCm39) |
V522I |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,384,831 (GRCm39) |
N646K |
possibly damaging |
Het |
Sars2 |
A |
G |
7: 28,451,950 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,384,316 (GRCm39) |
T227A |
possibly damaging |
Het |
Smc1b |
T |
C |
15: 84,982,186 (GRCm39) |
T703A |
probably benign |
Het |
Stk32a |
G |
T |
18: 43,446,572 (GRCm39) |
D341Y |
probably benign |
Het |
Thap11 |
T |
C |
8: 106,582,546 (GRCm39) |
V185A |
possibly damaging |
Het |
Ttll10 |
C |
A |
4: 156,132,890 (GRCm39) |
V65F |
probably benign |
Het |
Ube2q1 |
T |
A |
3: 89,687,769 (GRCm39) |
N111K |
possibly damaging |
Het |
Upf2 |
C |
A |
2: 6,031,134 (GRCm39) |
|
probably benign |
Het |
Vasp |
T |
A |
7: 18,991,637 (GRCm39) |
|
probably benign |
Het |
Vmn2r104 |
C |
T |
17: 20,262,056 (GRCm39) |
W358* |
probably null |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,046,376 (GRCm39) |
G1826R |
possibly damaging |
Het |
Wdr7 |
T |
A |
18: 63,910,616 (GRCm39) |
Y669* |
probably null |
Het |
Wdr72 |
T |
A |
9: 74,189,011 (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 |
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 |