Incidental Mutation 'R0352:Polr1a'
| ID |
29703 |
| 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 |
038558-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 71897747 bp (GRCm39)
|
| 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: 71,184,804 (GRCm39) |
T64M |
possibly damaging |
Het |
| 3110040N11Rik |
G |
T |
7: 81,438,208 (GRCm39) |
N49K |
probably benign |
Het |
| Adrb1 |
T |
A |
19: 56,711,293 (GRCm39) |
F164I |
probably damaging |
Het |
| Aplf |
C |
T |
6: 87,630,866 (GRCm39) |
V190I |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,000,533 (GRCm39) |
Y50H |
probably damaging |
Het |
| Arfgef3 |
A |
C |
10: 18,537,135 (GRCm39) |
I182R |
probably benign |
Het |
| Cacna1b |
G |
A |
2: 24,515,244 (GRCm39) |
|
probably benign |
Het |
| Casp9 |
A |
G |
4: 141,532,841 (GRCm39) |
T246A |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,099,063 (GRCm39) |
S427P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,761,846 (GRCm39) |
N556S |
possibly damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,969,018 (GRCm39) |
|
probably null |
Het |
| Col11a2 |
T |
G |
17: 34,261,501 (GRCm39) |
V120G |
probably benign |
Het |
| Cux2 |
A |
C |
5: 122,022,802 (GRCm39) |
|
probably benign |
Het |
| Dmrt2 |
T |
C |
19: 25,656,026 (GRCm39) |
S542P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,286 (GRCm39) |
H3133R |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,837,374 (GRCm39) |
R286Q |
unknown |
Het |
| Eipr1 |
A |
G |
12: 28,816,784 (GRCm39) |
D47G |
probably damaging |
Het |
| Fras1 |
T |
G |
5: 96,874,399 (GRCm39) |
Y2275D |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,670,865 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,129,918 (GRCm39) |
V100A |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,019,039 (GRCm39) |
V1937I |
possibly damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,977,168 (GRCm39) |
V216A |
probably damaging |
Het |
| Hsd17b4 |
T |
C |
18: 50,324,851 (GRCm39) |
I688T |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,296,533 (GRCm39) |
|
probably null |
Het |
| Iws1 |
A |
G |
18: 32,217,258 (GRCm39) |
E426G |
probably damaging |
Het |
| Klrb1f |
T |
C |
6: 129,030,680 (GRCm39) |
S64P |
probably damaging |
Het |
| Lacc1 |
C |
T |
14: 77,272,629 (GRCm39) |
G56R |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
| Lipm |
C |
T |
19: 34,090,275 (GRCm39) |
|
probably benign |
Het |
| Lum |
A |
G |
10: 97,404,471 (GRCm39) |
H122R |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,270,664 (GRCm39) |
Y15C |
probably damaging |
Het |
| Mal |
A |
T |
2: 127,482,286 (GRCm39) |
I39N |
probably damaging |
Het |
| Mgme1 |
A |
G |
2: 144,118,319 (GRCm39) |
H197R |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,921,955 (GRCm39) |
K137N |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,981,254 (GRCm39) |
C706S |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 113,022,389 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,352,744 (GRCm39) |
E356G |
possibly damaging |
Het |
| Nfib |
A |
G |
4: 82,422,954 (GRCm39) |
|
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,173,076 (GRCm39) |
M788V |
probably benign |
Het |
| Or9a2 |
C |
T |
6: 41,749,058 (GRCm39) |
M58I |
probably damaging |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,525,617 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
T |
4: 143,297,878 (GRCm39) |
|
probably benign |
Het |
| Pramel21 |
A |
T |
4: 143,342,559 (GRCm39) |
D222V |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,044,337 (GRCm39) |
V405D |
possibly damaging |
Het |
| Psg26 |
T |
A |
7: 18,209,181 (GRCm39) |
Y409F |
probably benign |
Het |
| Psme3ip1 |
A |
G |
8: 95,314,639 (GRCm39) |
F73S |
probably damaging |
Het |
| Ptges |
G |
T |
2: 30,793,144 (GRCm39) |
Y29* |
probably null |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,399 (GRCm39) |
T97A |
probably benign |
Het |
| Ripk3 |
T |
A |
14: 56,024,200 (GRCm39) |
|
probably benign |
Het |
| Rnf114 |
A |
T |
2: 167,353,136 (GRCm39) |
I136F |
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,844,497 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 131,902,716 (GRCm39) |
M495I |
probably benign |
Het |
| Slc52a3 |
T |
A |
2: 151,849,433 (GRCm39) |
L360* |
probably null |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Syt5 |
A |
G |
7: 4,544,170 (GRCm39) |
V290A |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,239,790 (GRCm39) |
A1931V |
unknown |
Het |
| Tasp1 |
A |
G |
2: 139,793,378 (GRCm39) |
|
probably null |
Het |
| Tcp10a |
C |
A |
17: 7,593,805 (GRCm39) |
D43E |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,516,408 (GRCm39) |
Y187N |
probably benign |
Het |
| Tppp2 |
T |
A |
14: 52,156,807 (GRCm39) |
N61K |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,482,548 (GRCm39) |
W100R |
probably damaging |
Het |
| Zfp623 |
A |
G |
15: 75,820,433 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,174 (GRCm39) |
I57M |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,672,413 (GRCm39) |
C10Y |
probably 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 |
|
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 |
|
|
R8170:Polr1a
|
UTSW |
6 |
71,897,733 (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'- CAGAAGCAAACTTGTCGCTCAGTTC -3'
(R):5'- ACGTAGGCACCTGTAAGCACTCTC -3'
Sequencing Primer
(F):5'- TGTCCACACTGCAAGTGAG -3'
(R):5'- TGTAAGCACTCTCATAGCACGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation