Incidental Mutation 'R0352:Polr1a'
| ID |
29703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1a
|
| Ensembl Gene |
ENSMUSG00000049553 |
| Gene Name |
polymerase (RNA) I polypeptide A |
| Synonyms |
RPA194, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4 |
| MMRRC Submission |
038558-MU
|
| Accession Numbers |
Genbank: NM_009088; MGI: 1096397 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71909053-71984935 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 71920763 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
| AlphaFold |
O35134 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
| 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 |
noncoding transcript
Transcript: ENSMUST00000205842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.0%
|
| Validation Efficiency |
100% (70/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,138,030 (GRCm38) |
T64M |
possibly damaging |
Het |
| 3110040N11Rik |
G |
T |
7: 81,788,460 (GRCm38) |
N49K |
probably benign |
Het |
| Adrb1 |
T |
A |
19: 56,722,861 (GRCm38) |
F164I |
probably damaging |
Het |
| Aplf |
C |
T |
6: 87,653,884 (GRCm38) |
V190I |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,170,052 (GRCm38) |
Y50H |
probably damaging |
Het |
| Arfgef3 |
A |
C |
10: 18,661,387 (GRCm38) |
I182R |
probably benign |
Het |
| BC080695 |
A |
T |
4: 143,571,308 (GRCm38) |
|
probably benign |
Het |
| Cacna1b |
G |
A |
2: 24,625,232 (GRCm38) |
|
probably benign |
Het |
| Casp9 |
A |
G |
4: 141,805,530 (GRCm38) |
T246A |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,014,606 (GRCm38) |
S427P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,604,503 (GRCm38) |
N556S |
possibly damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,084 (GRCm38) |
|
probably null |
Het |
| Col11a2 |
T |
G |
17: 34,042,527 (GRCm38) |
V120G |
probably benign |
Het |
| Cux2 |
A |
C |
5: 121,884,739 (GRCm38) |
|
probably benign |
Het |
| Dmrt2 |
T |
C |
19: 25,678,662 (GRCm38) |
S542P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,277,126 (GRCm38) |
H3133R |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,837,288 (GRCm38) |
R286Q |
unknown |
Het |
| Eipr1 |
A |
G |
12: 28,766,785 (GRCm38) |
D47G |
probably damaging |
Het |
| Fam192a |
A |
G |
8: 94,588,011 (GRCm38) |
F73S |
probably damaging |
Het |
| Fras1 |
T |
G |
5: 96,726,540 (GRCm38) |
Y2275D |
probably damaging |
Het |
| Gm13083 |
A |
T |
4: 143,615,989 (GRCm38) |
D222V |
possibly damaging |
Het |
| Grm4 |
C |
T |
17: 27,451,891 (GRCm38) |
|
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,152,920 (GRCm38) |
V100A |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,143,295 (GRCm38) |
V1937I |
possibly damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,758,194 (GRCm38) |
V216A |
probably damaging |
Het |
| Hsd17b4 |
T |
C |
18: 50,191,784 (GRCm38) |
I688T |
probably benign |
Het |
| Hydin |
T |
C |
8: 110,569,901 (GRCm38) |
|
probably null |
Het |
| Iws1 |
A |
G |
18: 32,084,205 (GRCm38) |
E426G |
probably damaging |
Het |
| Klrb1f |
T |
C |
6: 129,053,717 (GRCm38) |
S64P |
probably damaging |
Het |
| Lacc1 |
C |
T |
14: 77,035,189 (GRCm38) |
G56R |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 121,138,896 (GRCm38) |
S569P |
probably benign |
Het |
| Lipm |
C |
T |
19: 34,112,875 (GRCm38) |
|
probably benign |
Het |
| Lum |
A |
G |
10: 97,568,609 (GRCm38) |
H122R |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,065,666 (GRCm38) |
Y15C |
probably damaging |
Het |
| Mal |
A |
T |
2: 127,640,366 (GRCm38) |
I39N |
probably damaging |
Het |
| Mgme1 |
A |
G |
2: 144,276,399 (GRCm38) |
H197R |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,944,971 (GRCm38) |
K137N |
probably benign |
Het |
| Myh3 |
T |
A |
11: 67,090,428 (GRCm38) |
C706S |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,874,523 (GRCm38) |
|
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,045,749 (GRCm38) |
E356G |
possibly damaging |
Het |
| Nfib |
A |
G |
4: 82,504,717 (GRCm38) |
|
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,223,076 (GRCm38) |
M788V |
probably benign |
Het |
| Olfr459 |
C |
T |
6: 41,772,124 (GRCm38) |
M58I |
probably damaging |
Het |
| Pdha2 |
A |
G |
3: 141,211,696 (GRCm38) |
V17A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,486,458 (GRCm38) |
|
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,690,799 (GRCm38) |
|
probably benign |
Het |
| Prmt2 |
A |
T |
10: 76,208,503 (GRCm38) |
V405D |
possibly damaging |
Het |
| Psg26 |
T |
A |
7: 18,475,256 (GRCm38) |
Y409F |
probably benign |
Het |
| Ptges |
G |
T |
2: 30,903,132 (GRCm38) |
Y29* |
probably null |
Het |
| Ptrhd1 |
A |
G |
12: 4,236,399 (GRCm38) |
T97A |
probably benign |
Het |
| Ripk3 |
T |
A |
14: 55,786,743 (GRCm38) |
|
probably benign |
Het |
| Rnf114 |
A |
T |
2: 167,511,216 (GRCm38) |
I136F |
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,707,989 (GRCm38) |
|
probably null |
Het |
| Slc17a3 |
C |
T |
13: 23,855,858 (GRCm38) |
S293F |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 132,060,796 (GRCm38) |
M495I |
probably benign |
Het |
| Slc52a3 |
T |
A |
2: 152,007,513 (GRCm38) |
L360* |
probably null |
Het |
| Snapc1 |
C |
T |
12: 73,975,032 (GRCm38) |
R81C |
probably damaging |
Het |
| Syt5 |
A |
G |
7: 4,541,171 (GRCm38) |
V290A |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,382,593 (GRCm38) |
A1931V |
unknown |
Het |
| Tasp1 |
A |
G |
2: 139,951,458 (GRCm38) |
|
probably null |
Het |
| Tcp10a |
C |
A |
17: 7,326,406 (GRCm38) |
D43E |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,278,968 (GRCm38) |
Y187N |
probably benign |
Het |
| Tppp2 |
T |
A |
14: 51,919,350 (GRCm38) |
N61K |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,575,127 (GRCm38) |
W100R |
probably damaging |
Het |
| Zfp623 |
A |
G |
15: 75,948,584 (GRCm38) |
D463G |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,536,604 (GRCm38) |
I57M |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,722,413 (GRCm38) |
C10Y |
probably damaging |
Het |
|
| Other mutations in Polr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Polr1a
|
APN |
6 |
71,948,486 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01834:Polr1a
|
APN |
6 |
71,948,462 (GRCm38) |
missense |
probably benign |
|
|
IGL01902:Polr1a
|
APN |
6 |
71,963,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02101:Polr1a
|
APN |
6 |
71,950,802 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02325:Polr1a
|
APN |
6 |
71,920,657 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02398:Polr1a
|
APN |
6 |
71,936,556 (GRCm38) |
splice site |
probably benign |
|
|
IGL02528:Polr1a
|
APN |
6 |
71,964,717 (GRCm38) |
missense |
probably benign |
|
|
IGL02555:Polr1a
|
APN |
6 |
71,920,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02613:Polr1a
|
APN |
6 |
71,967,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02693:Polr1a
|
APN |
6 |
71,963,846 (GRCm38) |
splice site |
probably benign |
|
|
IGL02892:Polr1a
|
APN |
6 |
71,931,696 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03059:Polr1a
|
APN |
6 |
71,936,512 (GRCm38) |
missense |
probably benign |
|
|
IGL03174:Polr1a
|
APN |
6 |
71,977,347 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
D4043:Polr1a
|
UTSW |
6 |
71,941,417 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0092:Polr1a
|
UTSW |
6 |
71,967,455 (GRCm38) |
splice site |
probably benign |
|
|
R0217:Polr1a
|
UTSW |
6 |
71,963,703 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0267:Polr1a
|
UTSW |
6 |
71,974,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0329:Polr1a
|
UTSW |
6 |
71,966,416 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0330:Polr1a
|
UTSW |
6 |
71,966,416 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0411:Polr1a
|
UTSW |
6 |
71,978,421 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0446:Polr1a
|
UTSW |
6 |
71,950,664 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0846:Polr1a
|
UTSW |
6 |
71,924,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Polr1a
|
UTSW |
6 |
71,967,916 (GRCm38) |
missense |
probably benign |
|
|
R1294:Polr1a
|
UTSW |
6 |
71,912,902 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1460:Polr1a
|
UTSW |
6 |
71,941,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1657:Polr1a
|
UTSW |
6 |
71,941,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1846:Polr1a
|
UTSW |
6 |
71,976,188 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1862:Polr1a
|
UTSW |
6 |
71,909,203 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1865:Polr1a
|
UTSW |
6 |
71,966,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1903:Polr1a
|
UTSW |
6 |
71,967,914 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1937:Polr1a
|
UTSW |
6 |
71,936,552 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2063:Polr1a
|
UTSW |
6 |
71,936,285 (GRCm38) |
splice site |
probably null |
|
|
R2071:Polr1a
|
UTSW |
6 |
71,976,074 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2084:Polr1a
|
UTSW |
6 |
71,950,809 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2377:Polr1a
|
UTSW |
6 |
71,972,826 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2410:Polr1a
|
UTSW |
6 |
71,974,882 (GRCm38) |
missense |
probably benign |
|
|
R3001:Polr1a
|
UTSW |
6 |
71,913,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3001:Polr1a
|
UTSW |
6 |
71,965,644 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,965,644 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,913,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3924:Polr1a
|
UTSW |
6 |
71,929,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4105:Polr1a
|
UTSW |
6 |
71,976,191 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4125:Polr1a
|
UTSW |
6 |
71,965,706 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4271:Polr1a
|
UTSW |
6 |
71,953,022 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4440:Polr1a
|
UTSW |
6 |
71,950,848 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4667:Polr1a
|
UTSW |
6 |
71,917,821 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4769:Polr1a
|
UTSW |
6 |
71,950,868 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4801:Polr1a
|
UTSW |
6 |
71,976,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4802:Polr1a
|
UTSW |
6 |
71,976,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4828:Polr1a
|
UTSW |
6 |
71,966,401 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4911:Polr1a
|
UTSW |
6 |
71,909,229 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5071:Polr1a
|
UTSW |
6 |
71,931,709 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5165:Polr1a
|
UTSW |
6 |
71,967,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Polr1a
|
UTSW |
6 |
71,967,907 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5239:Polr1a
|
UTSW |
6 |
71,913,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Polr1a
|
UTSW |
6 |
71,929,366 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5599:Polr1a
|
UTSW |
6 |
71,967,362 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5696:Polr1a
|
UTSW |
6 |
71,929,426 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5850:Polr1a
|
UTSW |
6 |
71,926,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6274:Polr1a
|
UTSW |
6 |
71,954,890 (GRCm38) |
splice site |
probably null |
|
|
R6526:Polr1a
|
UTSW |
6 |
71,929,443 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6578:Polr1a
|
UTSW |
6 |
71,976,041 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6660:Polr1a
|
UTSW |
6 |
71,967,374 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6892:Polr1a
|
UTSW |
6 |
71,964,712 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7274:Polr1a
|
UTSW |
6 |
71,920,516 (GRCm38) |
nonsense |
probably null |
|
|
R7291:Polr1a
|
UTSW |
6 |
71,941,456 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7311:Polr1a
|
UTSW |
6 |
71,950,879 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7431:Polr1a
|
UTSW |
6 |
71,926,659 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7479:Polr1a
|
UTSW |
6 |
71,936,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7607:Polr1a
|
UTSW |
6 |
71,913,021 (GRCm38) |
missense |
probably benign |
|
|
R7739:Polr1a
|
UTSW |
6 |
71,954,835 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7746:Polr1a
|
UTSW |
6 |
71,941,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7764:Polr1a
|
UTSW |
6 |
71,953,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7835:Polr1a
|
UTSW |
6 |
71,915,142 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8029:Polr1a
|
UTSW |
6 |
71,912,956 (GRCm38) |
nonsense |
probably null |
|
|
R8057:Polr1a
|
UTSW |
6 |
71,931,660 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8144:Polr1a
|
UTSW |
6 |
71,950,616 (GRCm38) |
missense |
probably benign |
|
|
R8170:Polr1a
|
UTSW |
6 |
71,920,749 (GRCm38) |
missense |
probably benign |
|
|
R8320:Polr1a
|
UTSW |
6 |
71,941,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8328:Polr1a
|
UTSW |
6 |
71,920,734 (GRCm38) |
missense |
probably benign |
|
|
R8331:Polr1a
|
UTSW |
6 |
71,976,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8362:Polr1a
|
UTSW |
6 |
71,964,667 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8511:Polr1a
|
UTSW |
6 |
71,920,520 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8709:Polr1a
|
UTSW |
6 |
71,974,848 (GRCm38) |
missense |
probably benign |
|
|
R8745:Polr1a
|
UTSW |
6 |
71,954,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8784:Polr1a
|
UTSW |
6 |
71,950,628 (GRCm38) |
missense |
probably benign |
|
|
R9055:Polr1a
|
UTSW |
6 |
71,915,069 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9088:Polr1a
|
UTSW |
6 |
71,931,783 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9211:Polr1a
|
UTSW |
6 |
71,966,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9228:Polr1a
|
UTSW |
6 |
71,954,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9240:Polr1a
|
UTSW |
6 |
71,963,677 (GRCm38) |
nonsense |
probably null |
|
|
R9267:Polr1a
|
UTSW |
6 |
71,965,558 (GRCm38) |
missense |
probably benign |
|
|
R9302:Polr1a
|
UTSW |
6 |
71,924,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9744:Polr1a
|
UTSW |
6 |
71,929,388 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGCAAACTTGTCGCTCAGTTC -3'
(R):5'- ACGTAGGCACCTGTAAGCACTCTC -3'
Sequencing Primer
(F):5'- TGTCCACACTGCAAGTGAG -3'
(R):5'- TGTAAGCACTCTCATAGCACGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation