Incidental Mutation 'R2169:Polr3e'
| ID |
235666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3e
|
| Ensembl Gene |
ENSMUSG00000030880 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide E |
| Synonyms |
RPC5, Sin |
| MMRRC Submission |
040172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R2169 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120516967-120546655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120531360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 176
(R176W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033173]
[ENSMUST00000106483]
[ENSMUST00000207481]
|
| AlphaFold |
Q9CZT4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033173
AA Change: R176W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: R176W
| 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: R176W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: R176W
| 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: R150W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209014
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,622,349 (GRCm39) |
T606A |
probably benign |
Het |
| Adtrp |
T |
A |
13: 41,920,905 (GRCm39) |
S221C |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,336,797 (GRCm39) |
|
probably null |
Het |
| Arhgef5 |
A |
T |
6: 43,251,354 (GRCm39) |
M702L |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,245,879 (GRCm39) |
V34A |
probably damaging |
Het |
| Ccdc154 |
T |
A |
17: 25,389,897 (GRCm39) |
V509E |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,426,096 (GRCm39) |
D761N |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,486,138 (GRCm39) |
|
probably null |
Het |
| Dipk1a |
A |
T |
5: 108,057,325 (GRCm39) |
L411* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,945,745 (GRCm39) |
I4N |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,135 (GRCm39) |
K155E |
possibly damaging |
Het |
| Hemgn |
T |
A |
4: 46,396,417 (GRCm39) |
H273L |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,168 (GRCm39) |
V543A |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,299 (GRCm39) |
K113E |
probably benign |
Het |
| Hspb2 |
A |
G |
9: 50,663,015 (GRCm39) |
I38T |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,034,819 (GRCm39) |
E2021D |
probably benign |
Het |
| Lrpprc |
C |
T |
17: 85,077,505 (GRCm39) |
R394Q |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,629,753 (GRCm39) |
Y700H |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,528,752 (GRCm39) |
V593A |
probably benign |
Het |
| Mrgprh |
C |
T |
17: 13,095,856 (GRCm39) |
T32M |
probably benign |
Het |
| Mrpl18 |
A |
G |
17: 13,132,655 (GRCm39) |
|
probably null |
Het |
| Muc1 |
A |
G |
3: 89,138,903 (GRCm39) |
E504G |
probably damaging |
Het |
| Ndufa13 |
G |
A |
8: 70,347,169 (GRCm39) |
A77V |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,654 (GRCm39) |
F238L |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,111,363 (GRCm39) |
|
probably null |
Het |
| Pgm5 |
T |
A |
19: 24,812,179 (GRCm39) |
I118F |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,572 (GRCm39) |
F264L |
possibly damaging |
Het |
| Prkacb |
C |
T |
3: 146,452,438 (GRCm39) |
|
probably null |
Het |
| Rab19 |
T |
G |
6: 39,360,975 (GRCm39) |
V41G |
possibly damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,679,130 (GRCm39) |
Y234C |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,018,863 (GRCm39) |
T659A |
probably damaging |
Het |
| Slc6a2 |
G |
A |
8: 93,720,729 (GRCm39) |
V449I |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,723,726 (GRCm39) |
S1490P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,548,005 (GRCm39) |
T713A |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,932 (GRCm39) |
L732Q |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,905 (GRCm39) |
K229* |
probably null |
Het |
| Xylt1 |
G |
A |
7: 117,266,660 (GRCm39) |
G893R |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,907 (GRCm39) |
S69T |
probably damaging |
Het |
| Zfp114 |
C |
T |
7: 23,880,509 (GRCm39) |
T285I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,405,113 (GRCm39) |
E439G |
probably damaging |
Het |
| Zfp65 |
G |
A |
13: 67,858,499 (GRCm39) |
T55I |
probably damaging |
Het |
| Zmym1 |
C |
T |
4: 126,947,996 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CTGTACCTTCGTGGGTAAATGC -3'
(R):5'- AGTGAGATAAGCGGCTCTTGG -3'
Sequencing Primer
(F):5'- CTGAAAAGATATGTGTTGGCACCC -3'
(R):5'- AGATAAGCGGCTCTTGGGCATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation