Incidental Mutation 'R7319:Polr2a'
| ID |
568074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr2a
|
| Ensembl Gene |
ENSMUSG00000005198 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide A |
| Synonyms |
Rpo2-1, 220kDa |
| MMRRC Submission |
045415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69624823-69649459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69637196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 293
(N293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058470]
[ENSMUST00000071213]
|
| AlphaFold |
P08775 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058470
AA Change: N293S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000050771
Gene: ENSMUSG00000005198
AA Change: N293S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RPOLA_N
|
110 |
179 |
5e-37 |
BLAST |
|
RPOLA_N
|
246 |
549 |
7.02e-203 |
SMART |
|
Pfam:RNA_pol_Rpb1_4
|
716 |
823 |
3.6e-39 |
PFAM |
|
Pfam:RNA_pol_Rpb1_5
|
830 |
1428 |
2e-101 |
PFAM |
|
Pfam:RNA_pol_Rpb1_6
|
896 |
1079 |
1.7e-70 |
PFAM |
|
Pfam:RNA_pol_Rpb1_7
|
1164 |
1299 |
1.7e-57 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1555 |
1568 |
2.1e-3 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1616 |
1629 |
8.8e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1630 |
1643 |
1.9e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1644 |
1657 |
2.3e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1658 |
1671 |
2.2e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1672 |
1685 |
2.4e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1686 |
1699 |
2.5e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1700 |
1713 |
2.5e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1714 |
1727 |
2.5e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1728 |
1741 |
2.6e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1742 |
1755 |
5.3e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1757 |
1769 |
5.8e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1784 |
1797 |
2.6e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1798 |
1811 |
4.8e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1826 |
1839 |
4.3e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1841 |
1853 |
2e-3 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1854 |
1867 |
6.9e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1868 |
1881 |
3.7e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1882 |
1895 |
1.2e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1896 |
1909 |
5e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1910 |
1923 |
2.5e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1924 |
1936 |
2e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1931 |
1954 |
2.6e-3 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1948 |
1960 |
2.5e-3 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071213
AA Change: N293S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071200
Gene: ENSMUSG00000005198
AA Change: N293S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RPOLA_N
|
110 |
179 |
5e-37 |
BLAST |
|
RPOLA_N
|
246 |
549 |
7.02e-203 |
SMART |
|
Pfam:RNA_pol_Rpb1_4
|
716 |
823 |
1.8e-41 |
PFAM |
|
Pfam:RNA_pol_Rpb1_5
|
830 |
1428 |
4.8e-104 |
PFAM |
|
Pfam:RNA_pol_Rpb1_6
|
896 |
1079 |
5.2e-74 |
PFAM |
|
Pfam:RNA_pol_Rpb1_7
|
1164 |
1299 |
1.4e-55 |
PFAM |
|
low complexity region
|
1503 |
1522 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1549 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpb1_R
|
1578 |
1591 |
2.7e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1592 |
1605 |
2.5e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1606 |
1619 |
2.7e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1620 |
1633 |
2.5e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1634 |
1647 |
2.5e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1648 |
1661 |
2.4e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1662 |
1675 |
2.4e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1676 |
1689 |
2.6e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1690 |
1703 |
2.3e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1704 |
1717 |
5.2e-7 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1718 |
1731 |
5.5e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1732 |
1745 |
1.6e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1746 |
1759 |
8.6e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1760 |
1773 |
2e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1788 |
1801 |
3.3e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1802 |
1815 |
2.4e-4 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1816 |
1829 |
8.3e-7 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1830 |
1843 |
2.2e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1844 |
1857 |
1.6e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1858 |
1871 |
2.8e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1872 |
1885 |
6e-7 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1886 |
1899 |
4.6e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1893 |
1909 |
4.8e-5 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1903 |
1916 |
2.8e-6 |
PFAM |
|
Pfam:RNA_pol_Rpb1_R
|
1910 |
1923 |
1.6e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (79/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a reporter allele show prenatal lethality. Homozygotes for a small deletion in the C-terminal domain are viable, fertile and developmentally normal. Homozygotes for a larger deletion show reduced fetal size and partial postnatal lethality; survivors are small but otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
T |
14: 70,393,635 (GRCm39) |
I287N |
probably benign |
Het |
| Aco2 |
G |
T |
15: 81,787,820 (GRCm39) |
E223D |
probably damaging |
Het |
| Acsf3 |
T |
A |
8: 123,539,770 (GRCm39) |
I466N |
probably damaging |
Het |
| Albfm1 |
G |
A |
5: 90,719,625 (GRCm39) |
|
probably null |
Het |
| Aox3 |
T |
A |
1: 58,191,761 (GRCm39) |
F438I |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,225,794 (GRCm39) |
T591A |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,888,694 (GRCm39) |
A191V |
probably benign |
Het |
| Btg2 |
T |
C |
1: 134,006,779 (GRCm39) |
K5E |
probably benign |
Het |
| C1galt1 |
T |
A |
6: 7,871,150 (GRCm39) |
Y329N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,608,435 (GRCm39) |
I824T |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,817 (GRCm39) |
I182V |
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,302,496 (GRCm39) |
|
probably null |
Het |
| Chek1 |
T |
A |
9: 36,633,939 (GRCm39) |
R129W |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,896,815 (GRCm39) |
M354T |
possibly damaging |
Het |
| Cpq |
A |
G |
15: 33,250,185 (GRCm39) |
T181A |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,287,472 (GRCm39) |
Y1069F |
|
Het |
| Defb28 |
T |
A |
2: 152,361,974 (GRCm39) |
C45S |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 31,018,551 (GRCm39) |
Y1360H |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,823,608 (GRCm39) |
V3749A |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,819,935 (GRCm39) |
D3728E |
probably benign |
Het |
| Dym |
G |
A |
18: 75,196,245 (GRCm39) |
|
probably null |
Het |
| Dync2i2 |
G |
A |
2: 29,928,341 (GRCm39) |
P95L |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,747,903 (GRCm39) |
|
probably null |
Het |
| Eef1akmt4 |
A |
G |
16: 20,436,666 (GRCm39) |
K163E |
probably benign |
Het |
| Fbrs |
A |
G |
7: 127,081,985 (GRCm39) |
T242A |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,885,146 (GRCm39) |
V87M |
possibly damaging |
Het |
| Fst |
A |
T |
13: 114,595,068 (GRCm39) |
C19S |
probably benign |
Het |
| Gm7276 |
G |
A |
18: 77,273,216 (GRCm39) |
R173W |
unknown |
Het |
| Gm9195 |
G |
A |
14: 72,697,929 (GRCm39) |
H1284Y |
probably benign |
Het |
| Herc6 |
C |
A |
6: 57,581,074 (GRCm39) |
T258K |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,137,174 (GRCm39) |
Y678C |
probably damaging |
Het |
| Ifne |
A |
T |
4: 88,798,243 (GRCm39) |
N58K |
probably damaging |
Het |
| Ighv1-26 |
A |
T |
12: 114,752,163 (GRCm39) |
H60Q |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,746,520 (GRCm39) |
F1276L |
probably damaging |
Het |
| Itprid2 |
A |
T |
2: 79,466,416 (GRCm39) |
D82V |
probably damaging |
Het |
| Kcnc4 |
T |
A |
3: 107,366,100 (GRCm39) |
E36V |
probably benign |
Het |
| Kcnq2 |
C |
T |
2: 180,750,895 (GRCm39) |
G315S |
probably damaging |
Het |
| Kdm4c |
G |
A |
4: 74,255,200 (GRCm39) |
V585M |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,592 (GRCm39) |
R106H |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,481,221 (GRCm39) |
F313S |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,443,740 (GRCm39) |
S808T |
unknown |
Het |
| Lrch3 |
A |
G |
16: 32,815,363 (GRCm39) |
T585A |
probably benign |
Het |
| Lrch4 |
T |
A |
5: 137,637,977 (GRCm39) |
H86Q |
|
Het |
| Map3k20 |
A |
G |
2: 72,195,062 (GRCm39) |
D113G |
probably damaging |
Het |
| Mbd3l1 |
T |
C |
9: 18,396,417 (GRCm39) |
S181P |
probably benign |
Het |
| Mccc2 |
T |
C |
13: 100,104,241 (GRCm39) |
T303A |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,303,490 (GRCm39) |
R147G |
possibly damaging |
Het |
| Mrps5 |
T |
A |
2: 127,437,762 (GRCm39) |
S196R |
possibly damaging |
Het |
| Muc21 |
GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG |
GGGGTGGG |
17: 35,932,935 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,526,185 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
T |
4: 41,477,575 (GRCm39) |
M19L |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,146,245 (GRCm39) |
P779S |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,489,530 (GRCm39) |
T379A |
probably benign |
Het |
| Plekha8 |
A |
C |
6: 54,601,206 (GRCm39) |
M270L |
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,192,885 (GRCm39) |
H593R |
probably benign |
Het |
| Pramel32 |
G |
A |
4: 88,548,184 (GRCm39) |
P74S |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,532 (GRCm39) |
N866K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,757,790 (GRCm39) |
I308L |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,177,309 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
| Rnaset2b |
A |
T |
17: 7,259,166 (GRCm39) |
D144V |
probably benign |
Het |
| Senp6 |
T |
G |
9: 80,033,481 (GRCm39) |
D662E |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,200,817 (GRCm39) |
N200S |
possibly damaging |
Het |
| Serpinb9g |
C |
G |
13: 33,672,543 (GRCm39) |
Y113* |
probably null |
Het |
| Sgf29 |
T |
C |
7: 126,270,821 (GRCm39) |
I134T |
probably benign |
Het |
| Sh3bp4 |
T |
G |
1: 89,080,824 (GRCm39) |
|
probably null |
Het |
| Stab1 |
G |
A |
14: 30,862,783 (GRCm39) |
L2243F |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,770 (GRCm39) |
V149A |
probably benign |
Het |
| Syt3 |
C |
T |
7: 44,041,953 (GRCm39) |
Q271* |
probably null |
Het |
| Tas2r109 |
A |
G |
6: 132,957,663 (GRCm39) |
I89T |
probably benign |
Het |
| Tgif1 |
A |
G |
17: 71,151,847 (GRCm39) |
S255P |
probably damaging |
Het |
| Tm9sf1 |
G |
A |
14: 55,875,432 (GRCm39) |
|
probably benign |
Het |
| Tnf |
A |
G |
17: 35,419,347 (GRCm39) |
F161S |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,579,428 (GRCm39) |
S779R |
possibly damaging |
Het |
| Topors |
A |
G |
4: 40,260,540 (GRCm39) |
S915P |
unknown |
Het |
| Tpm4 |
C |
T |
8: 72,900,321 (GRCm39) |
L161F |
probably damaging |
Het |
| Trim38 |
C |
T |
13: 23,975,384 (GRCm39) |
T441I |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,141,620 (GRCm39) |
M548V |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,883,042 (GRCm39) |
T237S |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,309,209 (GRCm39) |
S538P |
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,813,294 (GRCm39) |
T649I |
probably benign |
Het |
|
| Other mutations in Polr2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Polr2a
|
APN |
11 |
69,634,620 (GRCm39) |
splice site |
probably benign |
|
|
IGL01067:Polr2a
|
APN |
11 |
69,638,840 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01547:Polr2a
|
APN |
11 |
69,635,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01589:Polr2a
|
APN |
11 |
69,632,020 (GRCm39) |
missense |
probably benign |
|
|
IGL01955:Polr2a
|
APN |
11 |
69,632,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Polr2a
|
APN |
11 |
69,634,076 (GRCm39) |
splice site |
probably benign |
|
|
IGL02526:Polr2a
|
APN |
11 |
69,630,293 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02792:Polr2a
|
APN |
11 |
69,636,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03058:Polr2a
|
APN |
11 |
69,635,873 (GRCm39) |
splice site |
probably null |
|
|
IGL03083:Polr2a
|
APN |
11 |
69,635,872 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03198:Polr2a
|
APN |
11 |
69,638,107 (GRCm39) |
splice site |
probably null |
|
|
IGL03201:Polr2a
|
APN |
11 |
69,636,516 (GRCm39) |
nonsense |
probably null |
|
|
Leastest
|
UTSW |
11 |
69,638,118 (GRCm39) |
splice site |
probably null |
|
|
PIT4260001:Polr2a
|
UTSW |
11 |
69,626,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0126:Polr2a
|
UTSW |
11 |
69,638,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0254:Polr2a
|
UTSW |
11 |
69,634,497 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0313:Polr2a
|
UTSW |
11 |
69,625,906 (GRCm39) |
missense |
unknown |
|
|
R0336:Polr2a
|
UTSW |
11 |
69,627,719 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0453:Polr2a
|
UTSW |
11 |
69,631,845 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0762:Polr2a
|
UTSW |
11 |
69,625,943 (GRCm39) |
missense |
unknown |
|
|
R1101:Polr2a
|
UTSW |
11 |
69,638,897 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1509:Polr2a
|
UTSW |
11 |
69,638,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1547:Polr2a
|
UTSW |
11 |
69,625,381 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1567:Polr2a
|
UTSW |
11 |
69,636,857 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1597:Polr2a
|
UTSW |
11 |
69,630,755 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1614:Polr2a
|
UTSW |
11 |
69,634,199 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1698:Polr2a
|
UTSW |
11 |
69,630,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1735:Polr2a
|
UTSW |
11 |
69,633,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1743:Polr2a
|
UTSW |
11 |
69,630,329 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1899:Polr2a
|
UTSW |
11 |
69,634,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1900:Polr2a
|
UTSW |
11 |
69,634,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1931:Polr2a
|
UTSW |
11 |
69,626,201 (GRCm39) |
missense |
unknown |
|
|
R2217:Polr2a
|
UTSW |
11 |
69,633,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2218:Polr2a
|
UTSW |
11 |
69,633,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2245:Polr2a
|
UTSW |
11 |
69,626,009 (GRCm39) |
missense |
unknown |
|
|
R3123:Polr2a
|
UTSW |
11 |
69,626,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3124:Polr2a
|
UTSW |
11 |
69,626,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4018:Polr2a
|
UTSW |
11 |
69,625,885 (GRCm39) |
missense |
unknown |
|
|
R4025:Polr2a
|
UTSW |
11 |
69,634,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4197:Polr2a
|
UTSW |
11 |
69,626,162 (GRCm39) |
missense |
unknown |
|
|
R4462:Polr2a
|
UTSW |
11 |
69,637,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Polr2a
|
UTSW |
11 |
69,633,385 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4746:Polr2a
|
UTSW |
11 |
69,626,500 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5069:Polr2a
|
UTSW |
11 |
69,627,561 (GRCm39) |
splice site |
probably null |
|
|
R5102:Polr2a
|
UTSW |
11 |
69,637,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5195:Polr2a
|
UTSW |
11 |
69,634,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Polr2a
|
UTSW |
11 |
69,627,666 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5330:Polr2a
|
UTSW |
11 |
69,638,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5331:Polr2a
|
UTSW |
11 |
69,638,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5896:Polr2a
|
UTSW |
11 |
69,627,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5910:Polr2a
|
UTSW |
11 |
69,637,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6128:Polr2a
|
UTSW |
11 |
69,627,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Polr2a
|
UTSW |
11 |
69,638,047 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6244:Polr2a
|
UTSW |
11 |
69,635,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6303:Polr2a
|
UTSW |
11 |
69,637,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Polr2a
|
UTSW |
11 |
69,630,505 (GRCm39) |
splice site |
probably null |
|
|
R6361:Polr2a
|
UTSW |
11 |
69,634,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6374:Polr2a
|
UTSW |
11 |
69,627,758 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6630:Polr2a
|
UTSW |
11 |
69,626,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6631:Polr2a
|
UTSW |
11 |
69,626,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6633:Polr2a
|
UTSW |
11 |
69,626,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6897:Polr2a
|
UTSW |
11 |
69,626,787 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6923:Polr2a
|
UTSW |
11 |
69,626,787 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6933:Polr2a
|
UTSW |
11 |
69,630,293 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6933:Polr2a
|
UTSW |
11 |
69,627,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6953:Polr2a
|
UTSW |
11 |
69,632,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6974:Polr2a
|
UTSW |
11 |
69,638,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7033:Polr2a
|
UTSW |
11 |
69,638,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7085:Polr2a
|
UTSW |
11 |
69,634,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7112:Polr2a
|
UTSW |
11 |
69,626,135 (GRCm39) |
missense |
unknown |
|
|
R7124:Polr2a
|
UTSW |
11 |
69,628,288 (GRCm39) |
nonsense |
probably null |
|
|
R7307:Polr2a
|
UTSW |
11 |
69,638,118 (GRCm39) |
splice site |
probably null |
|
|
R7350:Polr2a
|
UTSW |
11 |
69,631,886 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7369:Polr2a
|
UTSW |
11 |
69,636,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Polr2a
|
UTSW |
11 |
69,630,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7882:Polr2a
|
UTSW |
11 |
69,627,000 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7935:Polr2a
|
UTSW |
11 |
69,638,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8080:Polr2a
|
UTSW |
11 |
69,625,874 (GRCm39) |
missense |
unknown |
|
|
R8140:Polr2a
|
UTSW |
11 |
69,637,202 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8221:Polr2a
|
UTSW |
11 |
69,628,344 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8245:Polr2a
|
UTSW |
11 |
69,630,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8274:Polr2a
|
UTSW |
11 |
69,638,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8275:Polr2a
|
UTSW |
11 |
69,638,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8276:Polr2a
|
UTSW |
11 |
69,638,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8277:Polr2a
|
UTSW |
11 |
69,638,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8311:Polr2a
|
UTSW |
11 |
69,628,282 (GRCm39) |
missense |
probably null |
0.20 |
|
R8477:Polr2a
|
UTSW |
11 |
69,626,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8677:Polr2a
|
UTSW |
11 |
69,626,381 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8976:Polr2a
|
UTSW |
11 |
69,638,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9296:Polr2a
|
UTSW |
11 |
69,625,562 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9659:Polr2a
|
UTSW |
11 |
69,625,654 (GRCm39) |
missense |
unknown |
|
|
R9731:Polr2a
|
UTSW |
11 |
69,638,043 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTTCTGCTGCCTCATG -3'
(R):5'- TAGCGTGTGTAAAGGGCCAG -3'
Sequencing Primer
(F):5'- ATGCTGGCCCCCACTCTG -3'
(R):5'- ACAGGAGTTTGAACATGTTTTGCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation