Incidental Mutation 'R1192:Polr3e'
ID |
100886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polr3e
|
Ensembl Gene |
ENSMUSG00000030880 |
Gene Name |
polymerase (RNA) III (DNA directed) polypeptide E |
Synonyms |
RPC5, Sin |
MMRRC Submission |
039264-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R1192 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
120516967-120546655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120532531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 189
(D189G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033173]
[ENSMUST00000106483]
[ENSMUST00000207481]
|
AlphaFold |
Q9CZT4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033173
AA Change: D215G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000033173 Gene: ENSMUSG00000030880 AA Change: D215G
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 benign
Transcript: ENSMUST00000106483
AA Change: D215G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000102092 Gene: ENSMUSG00000030880 AA Change: D215G
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 benign
Transcript: ENSMUST00000207481
AA Change: D189G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209014
|
Meta Mutation Damage Score |
0.1979 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
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 |
IGL02208:Polr3e
|
APN |
7 |
120,531,363 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGTTTCTGCACTGTAGATGGAATACG -3'
(R):5'- TAGTAGCTCCTGGACAAGCCTCAC -3'
Sequencing Primer
(F):5'- CACTGTAGATGGAATACGAGGGC -3'
(R):5'- CATGAGGCTCATCTATGCCAG -3'
|
Posted On |
2014-01-15 |