Incidental Mutation 'R8170:Polr1a'
ID |
634034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polr1a
|
Ensembl Gene |
ENSMUSG00000049553 |
Gene Name |
polymerase (RNA) I polypeptide A |
Synonyms |
2900087K15Rik, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4, RPA194 |
MMRRC Submission |
067596-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 71897733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 243
(P243A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
AlphaFold |
O35134 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
AA Change: P243A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: P243A
Domain | Start | End | E-Value | Type |
RPOLA_N
|
302 |
649 |
8.97e-137 |
SMART |
Pfam:RNA_pol_Rpb1_4
|
846 |
958 |
1.3e-26 |
PFAM |
Pfam:RNA_pol_Rpb1_5
|
965 |
1669 |
7e-103 |
PFAM |
low complexity region
|
1698 |
1708 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
AA Change: P243A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (76/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
|
Allele List at MGI |
All alleles(18) : Gene trapped(18) |
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,411,713 (GRCm39) |
V595A |
probably benign |
Het |
A430033K04Rik |
A |
G |
5: 138,645,315 (GRCm39) |
E400G |
possibly damaging |
Het |
Abca16 |
C |
T |
7: 120,065,005 (GRCm39) |
T554I |
probably damaging |
Het |
Acadm |
T |
A |
3: 153,650,035 (GRCm39) |
R10W |
possibly damaging |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,023,048 (GRCm39) |
W120R |
probably damaging |
Het |
Atg7 |
A |
T |
6: 114,678,151 (GRCm39) |
Q347L |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,163,690 (GRCm39) |
I316V |
possibly damaging |
Het |
B4galnt3 |
A |
T |
6: 120,183,577 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
A |
T |
5: 144,214,502 (GRCm39) |
Y397* |
probably null |
Het |
Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
C |
1: 92,862,686 (GRCm39) |
S31P |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,615,490 (GRCm39) |
|
probably benign |
Het |
Ccdc122 |
A |
T |
14: 77,329,318 (GRCm39) |
I124L |
probably benign |
Het |
Ccdc90b |
A |
G |
7: 92,210,750 (GRCm39) |
S3G |
probably benign |
Het |
Cdc14b |
A |
T |
13: 64,363,549 (GRCm39) |
|
probably null |
Het |
Chd5 |
T |
A |
4: 152,461,040 (GRCm39) |
M1210K |
probably benign |
Het |
Clec18a |
T |
G |
8: 111,807,551 (GRCm39) |
K133T |
probably damaging |
Het |
Cog4 |
T |
A |
8: 111,592,663 (GRCm39) |
M413K |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,624,594 (GRCm39) |
I145L |
probably benign |
Het |
Ctdspl2 |
T |
G |
2: 121,837,423 (GRCm39) |
S397A |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,892,797 (GRCm39) |
I794N |
probably damaging |
Het |
Ednrb |
T |
A |
14: 104,060,640 (GRCm39) |
T218S |
possibly damaging |
Het |
Eif3b |
T |
A |
5: 140,412,530 (GRCm39) |
|
probably null |
Het |
Fanci |
A |
C |
7: 79,083,305 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,161,281 (GRCm39) |
V3150M |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,858,792 (GRCm39) |
Y3808C |
probably damaging |
Het |
Gabrr1 |
T |
A |
4: 33,162,718 (GRCm39) |
L428Q |
probably damaging |
Het |
Garnl3 |
G |
C |
2: 32,905,235 (GRCm39) |
P488R |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,894,793 (GRCm39) |
S656P |
probably benign |
Het |
Gpr153 |
T |
C |
4: 152,364,634 (GRCm39) |
I230T |
probably damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,293 (GRCm39) |
N86D |
probably benign |
Het |
Iqch |
T |
G |
9: 63,336,312 (GRCm39) |
R985S |
probably damaging |
Het |
Jun |
T |
A |
4: 94,938,559 (GRCm39) |
N317I |
probably damaging |
Het |
Kif26a |
T |
G |
12: 112,141,752 (GRCm39) |
|
probably null |
Het |
Map4k3 |
T |
C |
17: 80,913,289 (GRCm39) |
H627R |
possibly damaging |
Het |
Misp |
T |
A |
10: 79,662,300 (GRCm39) |
I239N |
probably benign |
Het |
Mpzl2 |
T |
A |
9: 44,955,019 (GRCm39) |
V27E |
probably damaging |
Het |
Mta3 |
T |
C |
17: 84,099,090 (GRCm39) |
S385P |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,414,737 (GRCm39) |
S2561N |
unknown |
Het |
Myh8 |
A |
G |
11: 67,179,092 (GRCm39) |
H495R |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,133,135 (GRCm39) |
T927S |
probably benign |
Het |
Nr5a2 |
T |
A |
1: 136,868,385 (GRCm39) |
D310V |
probably benign |
Het |
Nrbp1 |
A |
G |
5: 31,403,147 (GRCm39) |
T207A |
probably damaging |
Het |
Nxf1 |
G |
T |
19: 8,748,414 (GRCm39) |
L14F |
probably benign |
Het |
Or2a25 |
G |
A |
6: 42,889,125 (GRCm39) |
A223T |
possibly damaging |
Het |
Or6c207 |
T |
A |
10: 129,104,917 (GRCm39) |
N92Y |
possibly damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,608,637 (GRCm39) |
E623G |
probably damaging |
Het |
Pid1 |
T |
C |
1: 84,262,721 (GRCm39) |
|
probably null |
Het |
Plcb2 |
C |
A |
2: 118,541,934 (GRCm39) |
R892L |
possibly damaging |
Het |
Pot1a |
A |
G |
6: 25,758,802 (GRCm39) |
*326Q |
probably null |
Het |
Ppp5c |
G |
T |
7: 16,741,071 (GRCm39) |
F335L |
probably damaging |
Het |
Prl8a2 |
T |
C |
13: 27,536,794 (GRCm39) |
Y139H |
probably benign |
Het |
Rogdi |
G |
T |
16: 4,829,601 (GRCm39) |
R93S |
probably benign |
Het |
Rsph6a |
C |
A |
7: 18,791,505 (GRCm39) |
R225S |
probably damaging |
Het |
Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
Sf3a2 |
T |
A |
10: 80,639,131 (GRCm39) |
|
probably null |
Het |
Shank3 |
T |
C |
15: 89,433,043 (GRCm39) |
S1263P |
possibly damaging |
Het |
Speer4f2 |
A |
C |
5: 17,579,459 (GRCm39) |
D86A |
|
Het |
Spmip8 |
A |
T |
8: 96,046,686 (GRCm39) |
I120F |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,530,529 (GRCm39) |
F2262S |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,069,378 (GRCm39) |
I2803F |
probably benign |
Het |
Taf1c |
C |
T |
8: 120,329,565 (GRCm39) |
|
probably null |
Het |
Tasor2 |
G |
A |
13: 3,624,881 (GRCm39) |
Q1690* |
probably null |
Het |
Tfap2a |
C |
T |
13: 40,872,744 (GRCm39) |
V317I |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,106,317 (GRCm39) |
T370A |
probably benign |
Het |
Tmem201 |
C |
T |
4: 149,803,177 (GRCm39) |
G564S |
probably benign |
Het |
Ttc41 |
A |
C |
10: 86,612,030 (GRCm39) |
E1101A |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,211,974 (GRCm39) |
F113L |
possibly damaging |
Het |
Unc80 |
G |
T |
1: 66,690,692 (GRCm39) |
V2456L |
probably benign |
Het |
Vav3 |
A |
T |
3: 109,331,323 (GRCm39) |
N74I |
probably damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
Wdr97 |
C |
A |
15: 76,247,819 (GRCm39) |
F1614L |
|
Het |
Ylpm1 |
T |
A |
12: 85,080,801 (GRCm39) |
M1499K |
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,571 (GRCm39) |
V363A |
possibly damaging |
Het |
|
Other mutations in Polr1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01363:Polr1a
|
APN |
6 |
71,925,470 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01834:Polr1a
|
APN |
6 |
71,925,446 (GRCm39) |
missense |
probably benign |
|
IGL01902:Polr1a
|
APN |
6 |
71,940,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02101:Polr1a
|
APN |
6 |
71,927,786 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02325:Polr1a
|
APN |
6 |
71,897,641 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02398:Polr1a
|
APN |
6 |
71,913,540 (GRCm39) |
splice site |
probably benign |
|
IGL02528:Polr1a
|
APN |
6 |
71,941,701 (GRCm39) |
missense |
probably benign |
|
IGL02555:Polr1a
|
APN |
6 |
71,897,441 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02613:Polr1a
|
APN |
6 |
71,944,304 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02693:Polr1a
|
APN |
6 |
71,940,830 (GRCm39) |
splice site |
probably benign |
|
IGL02892:Polr1a
|
APN |
6 |
71,908,680 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03059:Polr1a
|
APN |
6 |
71,913,496 (GRCm39) |
missense |
probably benign |
|
IGL03174:Polr1a
|
APN |
6 |
71,954,331 (GRCm39) |
missense |
possibly damaging |
0.82 |
D4043:Polr1a
|
UTSW |
6 |
71,918,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0092:Polr1a
|
UTSW |
6 |
71,944,439 (GRCm39) |
splice site |
probably benign |
|
R0217:Polr1a
|
UTSW |
6 |
71,940,687 (GRCm39) |
missense |
probably benign |
0.19 |
R0267:Polr1a
|
UTSW |
6 |
71,951,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R0329:Polr1a
|
UTSW |
6 |
71,943,400 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0330:Polr1a
|
UTSW |
6 |
71,943,400 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0352:Polr1a
|
UTSW |
6 |
71,897,747 (GRCm39) |
splice site |
probably benign |
|
R0411:Polr1a
|
UTSW |
6 |
71,955,405 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0446:Polr1a
|
UTSW |
6 |
71,927,648 (GRCm39) |
critical splice donor site |
probably null |
|
R0846:Polr1a
|
UTSW |
6 |
71,901,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R1035:Polr1a
|
UTSW |
6 |
71,944,900 (GRCm39) |
missense |
probably benign |
|
R1294:Polr1a
|
UTSW |
6 |
71,889,886 (GRCm39) |
missense |
probably damaging |
0.99 |
R1460:Polr1a
|
UTSW |
6 |
71,918,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R1657:Polr1a
|
UTSW |
6 |
71,918,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R1846:Polr1a
|
UTSW |
6 |
71,953,172 (GRCm39) |
missense |
probably damaging |
0.98 |
R1862:Polr1a
|
UTSW |
6 |
71,886,187 (GRCm39) |
missense |
probably damaging |
0.96 |
R1865:Polr1a
|
UTSW |
6 |
71,943,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Polr1a
|
UTSW |
6 |
71,944,898 (GRCm39) |
missense |
probably benign |
0.02 |
R1937:Polr1a
|
UTSW |
6 |
71,913,536 (GRCm39) |
critical splice donor site |
probably null |
|
R2063:Polr1a
|
UTSW |
6 |
71,913,269 (GRCm39) |
splice site |
probably null |
|
R2071:Polr1a
|
UTSW |
6 |
71,953,058 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2084:Polr1a
|
UTSW |
6 |
71,927,793 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2377:Polr1a
|
UTSW |
6 |
71,949,810 (GRCm39) |
critical splice donor site |
probably null |
|
R2410:Polr1a
|
UTSW |
6 |
71,951,866 (GRCm39) |
missense |
probably benign |
|
R3001:Polr1a
|
UTSW |
6 |
71,890,000 (GRCm39) |
missense |
probably benign |
0.01 |
R3001:Polr1a
|
UTSW |
6 |
71,942,628 (GRCm39) |
missense |
probably benign |
0.02 |
R3002:Polr1a
|
UTSW |
6 |
71,942,628 (GRCm39) |
missense |
probably benign |
0.02 |
R3002:Polr1a
|
UTSW |
6 |
71,890,000 (GRCm39) |
missense |
probably benign |
0.01 |
R3924:Polr1a
|
UTSW |
6 |
71,906,434 (GRCm39) |
missense |
probably benign |
0.00 |
R4105:Polr1a
|
UTSW |
6 |
71,953,175 (GRCm39) |
missense |
probably damaging |
0.98 |
R4125:Polr1a
|
UTSW |
6 |
71,942,690 (GRCm39) |
missense |
probably benign |
0.00 |
R4271:Polr1a
|
UTSW |
6 |
71,930,006 (GRCm39) |
missense |
probably benign |
0.02 |
R4440:Polr1a
|
UTSW |
6 |
71,927,832 (GRCm39) |
missense |
probably damaging |
0.98 |
R4667:Polr1a
|
UTSW |
6 |
71,894,805 (GRCm39) |
missense |
probably benign |
0.30 |
R4769:Polr1a
|
UTSW |
6 |
71,927,852 (GRCm39) |
missense |
probably benign |
0.01 |
R4801:Polr1a
|
UTSW |
6 |
71,953,054 (GRCm39) |
missense |
probably benign |
0.00 |
R4802:Polr1a
|
UTSW |
6 |
71,953,054 (GRCm39) |
missense |
probably benign |
0.00 |
R4828:Polr1a
|
UTSW |
6 |
71,943,385 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4911:Polr1a
|
UTSW |
6 |
71,886,213 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5071:Polr1a
|
UTSW |
6 |
71,908,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5165:Polr1a
|
UTSW |
6 |
71,944,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Polr1a
|
UTSW |
6 |
71,944,891 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5239:Polr1a
|
UTSW |
6 |
71,890,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Polr1a
|
UTSW |
6 |
71,906,350 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5599:Polr1a
|
UTSW |
6 |
71,944,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5696:Polr1a
|
UTSW |
6 |
71,906,410 (GRCm39) |
missense |
probably benign |
0.05 |
R5850:Polr1a
|
UTSW |
6 |
71,903,667 (GRCm39) |
missense |
probably benign |
0.00 |
R6274:Polr1a
|
UTSW |
6 |
71,931,874 (GRCm39) |
splice site |
probably null |
|
R6526:Polr1a
|
UTSW |
6 |
71,906,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6578:Polr1a
|
UTSW |
6 |
71,953,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6660:Polr1a
|
UTSW |
6 |
71,944,358 (GRCm39) |
missense |
probably damaging |
0.98 |
R6892:Polr1a
|
UTSW |
6 |
71,941,696 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7274:Polr1a
|
UTSW |
6 |
71,897,500 (GRCm39) |
nonsense |
probably null |
|
R7291:Polr1a
|
UTSW |
6 |
71,918,440 (GRCm39) |
missense |
probably benign |
0.02 |
R7311:Polr1a
|
UTSW |
6 |
71,927,863 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7431:Polr1a
|
UTSW |
6 |
71,903,643 (GRCm39) |
missense |
probably benign |
0.14 |
R7479:Polr1a
|
UTSW |
6 |
71,913,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R7607:Polr1a
|
UTSW |
6 |
71,890,005 (GRCm39) |
missense |
probably benign |
|
R7739:Polr1a
|
UTSW |
6 |
71,931,819 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7746:Polr1a
|
UTSW |
6 |
71,918,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Polr1a
|
UTSW |
6 |
71,930,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R7835:Polr1a
|
UTSW |
6 |
71,892,126 (GRCm39) |
missense |
probably benign |
0.02 |
R8029:Polr1a
|
UTSW |
6 |
71,889,940 (GRCm39) |
nonsense |
probably null |
|
R8057:Polr1a
|
UTSW |
6 |
71,908,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8144:Polr1a
|
UTSW |
6 |
71,927,600 (GRCm39) |
missense |
probably benign |
|
R8320:Polr1a
|
UTSW |
6 |
71,918,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R8328:Polr1a
|
UTSW |
6 |
71,897,718 (GRCm39) |
missense |
probably benign |
|
R8331:Polr1a
|
UTSW |
6 |
71,953,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R8362:Polr1a
|
UTSW |
6 |
71,941,651 (GRCm39) |
missense |
probably benign |
0.00 |
R8511:Polr1a
|
UTSW |
6 |
71,897,504 (GRCm39) |
missense |
probably benign |
0.01 |
R8709:Polr1a
|
UTSW |
6 |
71,951,832 (GRCm39) |
missense |
probably benign |
|
R8745:Polr1a
|
UTSW |
6 |
71,931,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:Polr1a
|
UTSW |
6 |
71,927,612 (GRCm39) |
missense |
probably benign |
|
R9055:Polr1a
|
UTSW |
6 |
71,892,053 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9088:Polr1a
|
UTSW |
6 |
71,908,767 (GRCm39) |
missense |
probably benign |
0.26 |
R9211:Polr1a
|
UTSW |
6 |
71,943,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Polr1a
|
UTSW |
6 |
71,931,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R9240:Polr1a
|
UTSW |
6 |
71,940,661 (GRCm39) |
nonsense |
probably null |
|
R9267:Polr1a
|
UTSW |
6 |
71,942,542 (GRCm39) |
missense |
probably benign |
|
R9302:Polr1a
|
UTSW |
6 |
71,901,683 (GRCm39) |
critical splice donor site |
probably null |
|
R9744:Polr1a
|
UTSW |
6 |
71,906,372 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGAAGACACACATGGC -3'
(R):5'- AGAACGTAGGCACCTGTAAGC -3'
Sequencing Primer
(F):5'- ACTGCAAGTGAGTGCTGGC -3'
(R):5'- GTAGGCACCTGTAAGCACTCTCATAG -3'
|
Posted On |
2020-07-13 |