Incidental Mutation 'R8952:Polr1e'
| ID |
681696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1e
|
| Ensembl Gene |
ENSMUSG00000028318 |
| Gene Name |
polymerase (RNA) I polypeptide E |
| Synonyms |
53kDa, Praf1, Paf53, D030019D19Rik |
| MMRRC Submission |
068714-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8952 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45018609-45034279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45018727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 19
(E19G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029999]
[ENSMUST00000107814]
[ENSMUST00000133157]
|
| AlphaFold |
Q8K202 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029999
AA Change: E19G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: E19G
| 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 |
probably damaging
Transcript: ENSMUST00000107814
AA Change: E19G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: E19G
| 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: E19G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: E19G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_I_A49
|
49 |
431 |
1.4e-117 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
T |
A |
7: 26,900,025 (GRCm39) |
S134T |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,065 (GRCm39) |
N758S |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,008,959 (GRCm39) |
Q287K |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,512,353 (GRCm39) |
N25K |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,417,398 (GRCm39) |
V552E |
possibly damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,958 (GRCm39) |
F848S |
probably benign |
Het |
| Dytn |
G |
A |
1: 63,698,111 (GRCm39) |
R299C |
|
Het |
| Fbxl18 |
C |
T |
5: 142,871,502 (GRCm39) |
A578T |
probably damaging |
Het |
| Galr1 |
C |
T |
18: 82,411,909 (GRCm39) |
C319Y |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,838,757 (GRCm39) |
|
probably benign |
Het |
| Hspa1l |
G |
T |
17: 35,196,946 (GRCm39) |
M328I |
probably benign |
Het |
| Itgad |
A |
T |
7: 127,789,324 (GRCm39) |
Y596F |
probably damaging |
Het |
| Krt19 |
T |
A |
11: 100,031,768 (GRCm39) |
N395Y |
possibly damaging |
Het |
| Lrit1 |
G |
A |
14: 36,783,664 (GRCm39) |
A331T |
probably damaging |
Het |
| Mmp1b |
C |
T |
9: 7,386,346 (GRCm39) |
V192I |
possibly damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,735 (GRCm39) |
A252V |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,299,459 (GRCm39) |
D1265G |
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,247,623 (GRCm39) |
I477T |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,545 (GRCm39) |
F137S |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,836,089 (GRCm39) |
N384S |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,634,500 (GRCm39) |
I1031V |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,835,859 (GRCm39) |
Y195H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,026,960 (GRCm39) |
C81Y |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,402 (GRCm39) |
I205V |
probably benign |
Het |
| Pfn2 |
T |
C |
3: 57,752,756 (GRCm39) |
D55G |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,499 (GRCm39) |
K485R |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,491,624 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Psd |
T |
C |
19: 46,310,900 (GRCm39) |
K383R |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,944 (GRCm39) |
L385P |
probably damaging |
Het |
| Ptpra |
T |
G |
2: 130,386,969 (GRCm39) |
I620S |
probably damaging |
Het |
| Rad54l2 |
T |
A |
9: 106,566,050 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,432,861 (GRCm39) |
N262K |
probably damaging |
Het |
| Stat1 |
G |
T |
1: 52,187,042 (GRCm39) |
V450F |
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,524 (GRCm39) |
T919I |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,468,992 (GRCm39) |
L529I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,748,863 (GRCm39) |
V4062A |
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,332,662 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,531 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,393 (GRCm39) |
H19L |
possibly damaging |
Het |
| Wdr76 |
C |
A |
2: 121,372,899 (GRCm39) |
H575Q |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,663,875 (GRCm39) |
V348A |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,310,207 (GRCm39) |
Y780N |
possibly damaging |
Het |
| Zmynd12 |
T |
C |
4: 119,302,081 (GRCm39) |
|
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 |
|
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 |
|
|
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'- AGGGGAGTTACTGCATCCTC -3'
(R):5'- TCCGAAGTGGTGACGATAGATG -3'
Sequencing Primer
(F):5'- AGGGTGTGATCCTCAAGGG -3'
(R):5'- TGGTGACGATAGATGAATGCG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation