Incidental Mutation 'IGL03128:Polr2k'
| ID |
410222 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr2k
|
| Ensembl Gene |
ENSMUSG00000045996 |
| Gene Name |
polymerase (RNA) II (DNA directed) polypeptide K |
| Synonyms |
ABC10-alpha, MafY, RPB10alpha, RPB7.0, RPABC4, RPB12, Mt1a |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
IGL03128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
36174156-36177156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36174337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 31
(P31Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057177]
[ENSMUST00000180159]
[ENSMUST00000227623]
|
| AlphaFold |
Q63871 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057177
AA Change: P31Q
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051968
Gene: ENSMUSG00000045996
AA Change: P31Q
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLCX
|
56 |
99 |
6.19e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180159
|
| SMART Domains |
Protein: ENSMUSP00000136975
Gene: ENSMUSG00000045996
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLCX
|
15 |
58 |
6.19e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227623
|
| 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 one of the smallest subunits 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,072,829 (GRCm39) |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,159,260 (GRCm39) |
|
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,959 (GRCm39) |
I226N |
probably damaging |
Het |
| Cth |
C |
T |
3: 157,626,672 (GRCm39) |
G56D |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,883,621 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,909,491 (GRCm39) |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 166,906,510 (GRCm39) |
L223Q |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,578,291 (GRCm39) |
M193L |
probably benign |
Het |
| Ifi205 |
A |
T |
1: 173,842,652 (GRCm39) |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,998 (GRCm39) |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,960,480 (GRCm39) |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,832 (GRCm39) |
N576K |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,395,005 (GRCm39) |
|
probably null |
Het |
| Nfic |
T |
C |
10: 81,242,025 (GRCm39) |
T328A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,461,333 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,798 (GRCm39) |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,054 (GRCm39) |
E486K |
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,678,884 (GRCm39) |
H216Y |
possibly damaging |
Het |
| Prkdc |
G |
T |
16: 15,518,608 (GRCm39) |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 20,992,038 (GRCm39) |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 79,251,846 (GRCm39) |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,802,282 (GRCm39) |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,615,708 (GRCm39) |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,892,714 (GRCm39) |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,781 (GRCm39) |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,891,829 (GRCm39) |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,268,795 (GRCm39) |
F333V |
probably damaging |
Het |
|
| Other mutations in Polr2k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0415:Polr2k
|
UTSW |
15 |
36,175,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Polr2k
|
UTSW |
15 |
36,175,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3795:Polr2k
|
UTSW |
15 |
36,175,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5213:Polr2k
|
UTSW |
15 |
36,175,143 (GRCm39) |
start codon destroyed |
probably null |
0.82 |
|
R6986:Polr2k
|
UTSW |
15 |
36,175,181 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8733:Polr2k
|
UTSW |
15 |
36,176,913 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2016-08-02 |
Incidental Mutation