Incidental Mutation 'R3795:Polr2k'
| ID |
272741 |
| Institutional Source |
Beutler Lab
|
| 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: 0.459)
|
| Stock # |
R3795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36174156-36177156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36175193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 18
(I18V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047348]
[ENSMUST00000057177]
[ENSMUST00000171205]
[ENSMUST00000180159]
[ENSMUST00000227623]
|
| AlphaFold |
Q63871 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047348
|
| SMART Domains |
Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
1.88e0 |
SMART |
|
TPR
|
247 |
279 |
3.47e-4 |
SMART |
|
TPR
|
280 |
313 |
8.23e-6 |
SMART |
|
low complexity region
|
383 |
400 |
N/A |
INTRINSIC |
|
TPR
|
430 |
463 |
5.92e1 |
SMART |
|
TPR
|
472 |
505 |
2.49e-5 |
SMART |
|
TPR
|
506 |
539 |
5.31e0 |
SMART |
|
TPR
|
606 |
639 |
7.63e-1 |
SMART |
|
TPR
|
640 |
673 |
1.38e-7 |
SMART |
|
Pfam:RPAP3_C
|
777 |
869 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057177
AA Change: I59V
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000051968
Gene: ENSMUSG00000045996
AA Change: I59V
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLCX
|
56 |
99 |
6.19e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171205
|
| SMART Domains |
Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
1.88e0 |
SMART |
|
TPR
|
247 |
279 |
3.47e-4 |
SMART |
|
TPR
|
280 |
313 |
8.23e-6 |
SMART |
|
low complexity region
|
383 |
400 |
N/A |
INTRINSIC |
|
TPR
|
430 |
463 |
5.92e1 |
SMART |
|
TPR
|
472 |
505 |
2.49e-5 |
SMART |
|
TPR
|
506 |
539 |
5.31e0 |
SMART |
|
TPR
|
606 |
639 |
7.63e-1 |
SMART |
|
TPR
|
640 |
673 |
1.38e-7 |
SMART |
|
Pfam:RPAP3_C
|
777 |
869 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180159
AA Change: I18V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136975
Gene: ENSMUSG00000045996
AA Change: I18V
| Domain | Start | End | E-Value | Type |
|---|
|
RPOLCX
|
15 |
58 |
6.19e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227623
|
| Meta Mutation Damage Score |
0.1204 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
| Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
| S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
| Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
| Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
| Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
Het |
|
| Other mutations in Polr2k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03128:Polr2k
|
APN |
15 |
36,174,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATTCTTAAGACCCAGCCCAC -3'
(R):5'- AAGGGCTGTAGGCAGTACAC -3'
Sequencing Primer
(F):5'- TCTGCATGCTAGGCAAACATTC -3'
(R):5'- GTAGGCAGTACACCTTTTCCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation