Incidental Mutation 'IGL01574:Polr2e'
| ID |
278581 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr2e
|
| Ensembl Gene |
ENSMUSG00000004667 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide E |
| Synonyms |
RPB5, XAP4, 25kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL01574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79871787-79875493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79875467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 3
(D3Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004786]
|
| AlphaFold |
Q80UW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004786
AA Change: D3Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004786
Gene: ENSMUSG00000004667
AA Change: D3Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_Rpb5_N
|
4 |
94 |
3.2e-38 |
PFAM |
|
Pfam:RNA_pol_Rpb5_C
|
137 |
209 |
6.7e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd26 |
T |
G |
6: 118,516,659 (GRCm39) |
T502P |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,283 (GRCm39) |
Q295K |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,656,621 (GRCm39) |
C1544G |
probably benign |
Het |
| Ccl7 |
G |
A |
11: 81,937,451 (GRCm39) |
V62I |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,708,247 (GRCm39) |
T284K |
possibly damaging |
Het |
| Ces4a |
A |
T |
8: 105,871,859 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
T |
8: 11,489,306 (GRCm39) |
G1147V |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,448 (GRCm39) |
D428G |
possibly damaging |
Het |
| Itgb2 |
G |
A |
10: 77,393,798 (GRCm39) |
V413I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,135,975 (GRCm39) |
E20A |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,705,900 (GRCm39) |
G373W |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,010,062 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,572 (GRCm39) |
V818A |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,296 (GRCm39) |
Y53C |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,355,426 (GRCm39) |
V487A |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,488 (GRCm39) |
N772S |
probably benign |
Het |
| Mtmr4 |
C |
T |
11: 87,491,473 (GRCm39) |
T146I |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,017,546 (GRCm39) |
V1152I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,462 (GRCm39) |
D3978E |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,350,403 (GRCm39) |
L416P |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,544,992 (GRCm39) |
M161V |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,886 (GRCm39) |
|
probably null |
Het |
| Prss27 |
A |
T |
17: 24,257,345 (GRCm39) |
|
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Tmem30c |
T |
A |
16: 57,097,105 (GRCm39) |
I152F |
possibly damaging |
Het |
| Usp2 |
G |
A |
9: 44,005,100 (GRCm39) |
R378H |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,572 (GRCm39) |
I609N |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,836,381 (GRCm39) |
E133D |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,261 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Polr2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Polr2e
|
APN |
10 |
79,872,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL01607:Polr2e
|
APN |
10 |
79,875,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0157:Polr2e
|
UTSW |
10 |
79,872,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Polr2e
|
UTSW |
10 |
79,874,388 (GRCm39) |
missense |
probably benign |
|
|
R3891:Polr2e
|
UTSW |
10 |
79,873,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5305:Polr2e
|
UTSW |
10 |
79,873,897 (GRCm39) |
intron |
probably benign |
|
|
R7599:Polr2e
|
UTSW |
10 |
79,874,404 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8750:Polr2e
|
UTSW |
10 |
79,875,424 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9526:Polr2e
|
UTSW |
10 |
79,872,792 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2015-04-16 |
Incidental Mutation