Incidental Mutation 'R3794:Polr2k'
| ID |
272699 |
| 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 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
R3794 (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% (37/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
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 |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably 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 |
|
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 |
|
| 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