Incidental Mutation 'R3054:Polr1e'
ID |
265061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polr1e
|
Ensembl Gene |
ENSMUSG00000028318 |
Gene Name |
polymerase (RNA) I polypeptide E |
Synonyms |
53kDa, Praf1, Paf53, D030019D19Rik |
MMRRC Submission |
040563-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3054 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45018609-45034279 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45018724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 18
(T18I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029999]
[ENSMUST00000107814]
[ENSMUST00000133157]
|
AlphaFold |
Q8K202 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029999
AA Change: T18I
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029999 Gene: ENSMUSG00000028318 AA Change: T18I
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
51 |
476 |
2.1e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054723
|
SMART Domains |
Protein: ENSMUSP00000059941 Gene: ENSMUSG00000028318
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
24 |
401 |
7.9e-104 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000095105
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107814
AA Change: T18I
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103444 Gene: ENSMUSG00000028318 AA Change: T18I
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
49 |
385 |
4.1e-105 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133157
AA Change: T18I
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121007 Gene: ENSMUSG00000028318 AA Change: T18I
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
49 |
431 |
1.4e-117 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186030
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
Asb7 |
A |
T |
7: 66,328,959 (GRCm39) |
V27D |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
Ddo |
A |
G |
10: 40,507,738 (GRCm39) |
N45S |
probably benign |
Het |
Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,599,403 (GRCm39) |
F3317L |
probably benign |
Het |
Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
Psg29 |
A |
G |
7: 16,942,727 (GRCm39) |
T243A |
probably benign |
Het |
Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
Sumf1 |
T |
C |
6: 108,130,165 (GRCm39) |
N185D |
probably benign |
Het |
Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
probably damaging |
Het |
|
Other mutations in Polr1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Polr1e
|
APN |
4 |
45,031,364 (GRCm39) |
unclassified |
probably benign |
|
IGL01146:Polr1e
|
APN |
4 |
45,031,369 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01514:Polr1e
|
APN |
4 |
45,018,723 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01533:Polr1e
|
APN |
4 |
45,019,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0207:Polr1e
|
UTSW |
4 |
45,025,143 (GRCm39) |
splice site |
probably null |
|
R0562:Polr1e
|
UTSW |
4 |
45,029,421 (GRCm39) |
missense |
probably damaging |
0.99 |
R0761:Polr1e
|
UTSW |
4 |
45,027,392 (GRCm39) |
missense |
probably damaging |
0.98 |
R1472:Polr1e
|
UTSW |
4 |
45,028,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Polr1e
|
UTSW |
4 |
45,027,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R2994:Polr1e
|
UTSW |
4 |
45,027,473 (GRCm39) |
critical splice donor site |
probably null |
|
R4031:Polr1e
|
UTSW |
4 |
45,018,685 (GRCm39) |
missense |
probably benign |
0.02 |
R4195:Polr1e
|
UTSW |
4 |
45,019,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Polr1e
|
UTSW |
4 |
45,019,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:Polr1e
|
UTSW |
4 |
45,024,482 (GRCm39) |
missense |
probably benign |
|
R4880:Polr1e
|
UTSW |
4 |
45,022,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Polr1e
|
UTSW |
4 |
45,029,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4966:Polr1e
|
UTSW |
4 |
45,029,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Polr1e
|
UTSW |
4 |
45,018,723 (GRCm39) |
missense |
probably benign |
0.00 |
R5934:Polr1e
|
UTSW |
4 |
45,029,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R6358:Polr1e
|
UTSW |
4 |
45,026,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Polr1e
|
UTSW |
4 |
45,029,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Polr1e
|
UTSW |
4 |
45,024,553 (GRCm39) |
splice site |
probably null |
|
R8952:Polr1e
|
UTSW |
4 |
45,018,727 (GRCm39) |
missense |
probably damaging |
0.98 |
R9460:Polr1e
|
UTSW |
4 |
45,018,691 (GRCm39) |
missense |
probably benign |
0.25 |
R9709:Polr1e
|
UTSW |
4 |
45,018,678 (GRCm39) |
missense |
probably benign |
|
X0061:Polr1e
|
UTSW |
4 |
45,029,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTTACTGCATCCTCCTGC -3'
(R):5'- TCCGAAGTGGTGACGATAGATG -3'
Sequencing Primer
(F):5'- AGGGTGTGATCCTCAAGGG -3'
(R):5'- TGGTGACGATAGATGAATGCG -3'
|
Posted On |
2015-02-05 |