Incidental Mutation 'R4031:Polr1e'
ID |
313482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polr1e
|
Ensembl Gene |
ENSMUSG00000028318 |
Gene Name |
polymerase (RNA) I polypeptide E |
Synonyms |
53kDa, Praf1, Paf53, D030019D19Rik |
MMRRC Submission |
040960-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4031 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
45018609-45034279 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45018685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 5
(E5V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029999]
[ENSMUST00000107814]
[ENSMUST00000133157]
|
AlphaFold |
Q8K202 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029999
AA Change: E5V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000029999 Gene: ENSMUSG00000028318 AA Change: E5V
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 |
probably benign
Transcript: ENSMUST00000107814
AA Change: E5V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103444 Gene: ENSMUSG00000028318 AA Change: E5V
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_I_A49
|
49 |
385 |
4.1e-105 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133157
AA Change: E5V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000121007 Gene: ENSMUSG00000028318 AA Change: E5V
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
G |
T |
8: 87,244,077 (GRCm39) |
F1025L |
probably damaging |
Het |
Acss2 |
C |
T |
2: 155,399,130 (GRCm39) |
T477I |
probably damaging |
Het |
Aplp2 |
G |
A |
9: 31,069,026 (GRCm39) |
P601L |
probably benign |
Het |
Arl2bp |
T |
C |
8: 95,394,281 (GRCm39) |
I32T |
probably damaging |
Het |
Avpi1 |
C |
A |
19: 42,113,180 (GRCm39) |
|
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Ccdc150 |
T |
A |
1: 54,317,970 (GRCm39) |
M303K |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Copa |
T |
C |
1: 171,935,942 (GRCm39) |
V428A |
probably damaging |
Het |
Crybb3 |
A |
G |
5: 113,227,735 (GRCm39) |
Y29H |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,622,361 (GRCm39) |
I1031T |
probably benign |
Het |
Elf1 |
A |
C |
14: 79,806,723 (GRCm39) |
K161Q |
probably damaging |
Het |
Fndc1 |
A |
T |
17: 7,988,584 (GRCm39) |
Y1159* |
probably null |
Het |
Hspa12a |
T |
C |
19: 58,789,289 (GRCm39) |
N449S |
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,756,223 (GRCm39) |
E147G |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,336,679 (GRCm39) |
I5152T |
probably benign |
Het |
Ighv9-1 |
C |
T |
12: 114,057,844 (GRCm39) |
A19T |
probably benign |
Het |
Kcnt1 |
T |
G |
2: 25,806,060 (GRCm39) |
S1216R |
possibly damaging |
Het |
Kdm5d |
T |
A |
Y: 916,910 (GRCm39) |
V435E |
probably damaging |
Het |
Klhl30 |
G |
A |
1: 91,288,879 (GRCm39) |
R546H |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,592,860 (GRCm39) |
G3753D |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,275,105 (GRCm39) |
L6303P |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,208 (GRCm39) |
S195P |
possibly damaging |
Het |
Mindy3 |
A |
C |
2: 12,405,894 (GRCm39) |
|
probably null |
Het |
Neurod1 |
C |
T |
2: 79,284,370 (GRCm39) |
D338N |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Ppp2r2a |
T |
C |
14: 67,266,425 (GRCm39) |
S79G |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Rap1gds1 |
T |
C |
3: 138,756,353 (GRCm39) |
|
probably benign |
Het |
Rsph10b |
A |
G |
5: 143,922,486 (GRCm39) |
|
probably null |
Het |
Slc26a10 |
A |
G |
10: 127,013,871 (GRCm39) |
V297A |
possibly damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,189 (GRCm39) |
K47E |
probably damaging |
Het |
Slurp1 |
T |
C |
15: 74,599,336 (GRCm39) |
E58G |
probably damaging |
Het |
Spo11 |
T |
A |
2: 172,828,625 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,040,264 (GRCm39) |
|
probably benign |
Het |
Trak1 |
T |
C |
9: 121,280,736 (GRCm39) |
I272T |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,039,018 (GRCm39) |
S671T |
possibly damaging |
Het |
Usp43 |
G |
T |
11: 67,804,659 (GRCm39) |
A186D |
probably damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,595,483 (GRCm39) |
V679I |
probably benign |
Het |
Vsig10l |
C |
T |
7: 43,114,798 (GRCm39) |
A333V |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,367,455 (GRCm39) |
|
probably null |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,928,029 (GRCm39) |
T1141A |
probably damaging |
Het |
Zfp236 |
T |
A |
18: 82,642,590 (GRCm39) |
E1052V |
probably damaging |
Het |
Zfp317 |
A |
T |
9: 19,558,008 (GRCm39) |
H163L |
possibly damaging |
Het |
Zfp975 |
G |
A |
7: 42,312,377 (GRCm39) |
Q79* |
probably null |
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 |
|
R3054:Polr1e
|
UTSW |
4 |
45,018,724 (GRCm39) |
missense |
possibly damaging |
0.77 |
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'- GTCCGAAGTGGTGACGATAG -3'
Sequencing Primer
(F):5'- GCATCCTCCTGCAAGGG -3'
(R):5'- AGTGGGCTACCGTGGTAC -3'
|
Posted On |
2015-04-30 |