Incidental Mutation 'IGL02208:Polr3e'
| ID |
284580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3e
|
| Ensembl Gene |
ENSMUSG00000030880 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide E |
| Synonyms |
RPC5, Sin |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL02208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120516967-120546655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120531363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 151
(F151I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033173]
[ENSMUST00000106483]
[ENSMUST00000207481]
|
| AlphaFold |
Q9CZT4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033173
AA Change: F177I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: F177I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sin_N
|
5 |
432 |
7.1e-161 |
PFAM |
|
coiled coil region
|
458 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106483
AA Change: F177I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: F177I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sin_N
|
4 |
29 |
2.8e-10 |
PFAM |
|
Pfam:Sin_N
|
29 |
408 |
6.9e-141 |
PFAM |
|
coiled coil region
|
432 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207481
AA Change: F151I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209014
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,950,772 (GRCm39) |
Y898H |
probably damaging |
Het |
| Abr |
T |
C |
11: 76,346,471 (GRCm39) |
T484A |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,711,060 (GRCm39) |
V66I |
possibly damaging |
Het |
| Arhgef5 |
T |
G |
6: 43,252,064 (GRCm39) |
D938E |
probably benign |
Het |
| Asap1 |
T |
A |
15: 63,993,882 (GRCm39) |
E731V |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,065,899 (GRCm39) |
I368T |
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,433 (GRCm39) |
M886L |
probably benign |
Het |
| Efcab11 |
A |
G |
12: 99,820,861 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,385,158 (GRCm39) |
P448S |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,122,329 (GRCm39) |
D37G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,371,923 (GRCm39) |
Q230L |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 142,216,196 (GRCm39) |
S443Y |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,807,938 (GRCm39) |
M1K |
probably null |
Het |
| Misfa |
T |
C |
7: 46,633,572 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,142,760 (GRCm39) |
A974T |
possibly damaging |
Het |
| Npm3 |
T |
C |
19: 45,737,299 (GRCm39) |
T72A |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,415 (GRCm39) |
F175S |
probably damaging |
Het |
| P3h4 |
T |
C |
11: 100,304,901 (GRCm39) |
N162S |
probably damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,478,894 (GRCm39) |
T2118N |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,258,932 (GRCm39) |
P1152Q |
possibly damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,936 (GRCm39) |
E63K |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,313 (GRCm39) |
T326A |
probably benign |
Het |
| Prdm8 |
G |
T |
5: 98,331,324 (GRCm39) |
A59S |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,994,770 (GRCm39) |
N538S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,587,741 (GRCm39) |
D76G |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,021,225 (GRCm39) |
F302L |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,060,651 (GRCm39) |
I822N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,367 (GRCm39) |
I299T |
probably damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,484,520 (GRCm39) |
V20E |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,708,089 (GRCm39) |
|
probably null |
Het |
| Stat5b |
A |
C |
11: 100,695,739 (GRCm39) |
F81C |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,179,169 (GRCm39) |
V423E |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,606,020 (GRCm39) |
Y551F |
probably damaging |
Het |
| Tgm6 |
A |
T |
2: 129,977,790 (GRCm39) |
D43V |
probably benign |
Het |
| Tubb3 |
G |
T |
8: 124,147,603 (GRCm39) |
V179L |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,776,830 (GRCm39) |
H304Y |
probably benign |
Het |
| Vmn2r56 |
T |
G |
7: 12,449,408 (GRCm39) |
M277L |
probably benign |
Het |
| Wdr72 |
G |
A |
9: 74,064,581 (GRCm39) |
V538M |
probably damaging |
Het |
|
| Other mutations in Polr3e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Polr3e
|
APN |
7 |
120,540,034 (GRCm39) |
nonsense |
probably null |
|
|
IGL01664:Polr3e
|
APN |
7 |
120,530,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL01980:Polr3e
|
APN |
7 |
120,539,519 (GRCm39) |
splice site |
probably benign |
|
|
IGL02027:Polr3e
|
APN |
7 |
120,530,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Polr3e
|
APN |
7 |
120,538,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Polr3e
|
APN |
7 |
120,536,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1192:Polr3e
|
UTSW |
7 |
120,532,531 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1328:Polr3e
|
UTSW |
7 |
120,533,046 (GRCm39) |
splice site |
probably benign |
|
|
R1435:Polr3e
|
UTSW |
7 |
120,540,011 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1528:Polr3e
|
UTSW |
7 |
120,539,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Polr3e
|
UTSW |
7 |
120,538,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1924:Polr3e
|
UTSW |
7 |
120,539,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Polr3e
|
UTSW |
7 |
120,531,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Polr3e
|
UTSW |
7 |
120,531,465 (GRCm39) |
missense |
probably benign |
|
|
R2362:Polr3e
|
UTSW |
7 |
120,541,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Polr3e
|
UTSW |
7 |
120,532,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Polr3e
|
UTSW |
7 |
120,538,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5278:Polr3e
|
UTSW |
7 |
120,522,184 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5560:Polr3e
|
UTSW |
7 |
120,522,172 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5689:Polr3e
|
UTSW |
7 |
120,539,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5790:Polr3e
|
UTSW |
7 |
120,527,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Polr3e
|
UTSW |
7 |
120,539,690 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6317:Polr3e
|
UTSW |
7 |
120,527,205 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6334:Polr3e
|
UTSW |
7 |
120,527,222 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6891:Polr3e
|
UTSW |
7 |
120,543,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7110:Polr3e
|
UTSW |
7 |
120,539,510 (GRCm39) |
splice site |
probably null |
|
|
R7771:Polr3e
|
UTSW |
7 |
120,539,801 (GRCm39) |
missense |
probably benign |
|
|
R7809:Polr3e
|
UTSW |
7 |
120,523,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Polr3e
|
UTSW |
7 |
120,530,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8753:Polr3e
|
UTSW |
7 |
120,539,540 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9038:Polr3e
|
UTSW |
7 |
120,536,906 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9049:Polr3e
|
UTSW |
7 |
120,538,462 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation