Incidental Mutation 'R0411:Polr1a'
ID |
36656 |
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 |
038613-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0411 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71955405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1687
(H1687L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
|
AlphaFold |
O35134 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055296
AA Change: H1687L
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: H1687L
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 |
unknown
Transcript: ENSMUST00000205517
AA Change: H712L
|
Meta Mutation Damage Score |
0.1062 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (66/68) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,053,834 (GRCm39) |
|
probably benign |
Het |
6030469F06Rik |
A |
T |
12: 31,234,730 (GRCm39) |
|
noncoding transcript |
Het |
Acad11 |
T |
C |
9: 103,993,495 (GRCm39) |
F541L |
probably damaging |
Het |
Acin1 |
G |
T |
14: 54,884,231 (GRCm39) |
R92S |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,662,213 (GRCm39) |
S490P |
probably benign |
Het |
Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
Arih1 |
A |
T |
9: 59,393,266 (GRCm39) |
I122N |
possibly damaging |
Het |
Bmi1 |
T |
C |
2: 18,687,983 (GRCm39) |
|
probably benign |
Het |
Bmpr1a |
G |
A |
14: 34,137,834 (GRCm39) |
T391I |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,041,041 (GRCm39) |
K1256E |
probably damaging |
Het |
Cacng3 |
C |
T |
7: 122,367,795 (GRCm39) |
P225L |
probably damaging |
Het |
Cd101 |
A |
T |
3: 100,925,843 (GRCm39) |
|
probably null |
Het |
Cd55 |
A |
G |
1: 130,390,294 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,928,016 (GRCm39) |
I258T |
probably damaging |
Het |
Cfap251 |
C |
T |
5: 123,428,117 (GRCm39) |
T538M |
probably damaging |
Het |
Cma2 |
A |
G |
14: 56,211,135 (GRCm39) |
|
probably benign |
Het |
Ddost |
T |
A |
4: 138,036,964 (GRCm39) |
S176T |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,750,596 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,286,223 (GRCm39) |
I2681T |
probably damaging |
Het |
Ern1 |
C |
T |
11: 106,289,412 (GRCm39) |
E964K |
probably benign |
Het |
Exoc1l |
G |
T |
5: 76,648,334 (GRCm39) |
V47L |
possibly damaging |
Het |
Galntl5 |
C |
T |
5: 25,425,172 (GRCm39) |
R430C |
probably benign |
Het |
Gga3 |
A |
G |
11: 115,478,259 (GRCm39) |
L511P |
probably damaging |
Het |
Gria2 |
C |
T |
3: 80,618,165 (GRCm39) |
|
probably benign |
Het |
Hmbs |
A |
T |
9: 44,252,949 (GRCm39) |
L28* |
probably null |
Het |
Iffo2 |
A |
G |
4: 139,330,532 (GRCm39) |
E220G |
probably damaging |
Het |
Ifi30 |
A |
G |
8: 71,217,562 (GRCm39) |
|
probably benign |
Het |
Irf2 |
T |
A |
8: 47,299,096 (GRCm39) |
C297S |
probably benign |
Het |
Izumo4 |
T |
C |
10: 80,538,918 (GRCm39) |
Y94H |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,187,353 (GRCm39) |
V215A |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,580,955 (GRCm39) |
C513S |
probably damaging |
Het |
Lyg1 |
A |
T |
1: 37,988,977 (GRCm39) |
M81K |
possibly damaging |
Het |
Maip1 |
T |
G |
1: 57,454,852 (GRCm39) |
W279G |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,721,144 (GRCm39) |
T1263A |
probably benign |
Het |
Naa15 |
T |
A |
3: 51,373,060 (GRCm39) |
I701N |
possibly damaging |
Het |
Ncoa3 |
A |
G |
2: 165,910,463 (GRCm39) |
N1292S |
probably benign |
Het |
Necab2 |
T |
A |
8: 120,180,979 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
A |
18: 80,741,257 (GRCm39) |
I234F |
possibly damaging |
Het |
Olfm1 |
G |
A |
2: 28,098,223 (GRCm39) |
R95K |
possibly damaging |
Het |
Or10ag56 |
A |
G |
2: 87,139,402 (GRCm39) |
T90A |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,773,823 (GRCm39) |
N280K |
possibly damaging |
Het |
Otoa |
T |
C |
7: 120,755,750 (GRCm39) |
|
probably null |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pard6g |
A |
G |
18: 80,160,337 (GRCm39) |
D150G |
probably damaging |
Het |
Pax5 |
A |
G |
4: 44,609,783 (GRCm39) |
L215S |
probably damaging |
Het |
Pja2 |
A |
T |
17: 64,594,516 (GRCm39) |
|
probably benign |
Het |
Plk4 |
T |
A |
3: 40,765,654 (GRCm39) |
|
probably benign |
Het |
Ptcd2 |
G |
A |
13: 99,479,899 (GRCm39) |
L41F |
probably damaging |
Het |
Ropn1 |
T |
A |
16: 34,490,334 (GRCm39) |
S62T |
probably benign |
Het |
Setd1a |
T |
C |
7: 127,395,223 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,234,997 (GRCm39) |
D902G |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,120,068 (GRCm39) |
L719Q |
probably damaging |
Het |
Slc36a1 |
G |
T |
11: 55,123,333 (GRCm39) |
V433F |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,705,169 (GRCm39) |
V220A |
possibly damaging |
Het |
Slc6a5 |
A |
T |
7: 49,561,539 (GRCm39) |
R24W |
probably damaging |
Het |
Smox |
G |
T |
2: 131,362,564 (GRCm39) |
R281L |
probably benign |
Het |
Sulf2 |
G |
T |
2: 165,935,436 (GRCm39) |
H226N |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,106,358 (GRCm39) |
|
probably null |
Het |
Tenm3 |
C |
T |
8: 48,740,826 (GRCm39) |
S1210N |
possibly damaging |
Het |
Tns1 |
A |
T |
1: 73,964,920 (GRCm39) |
V1237E |
probably damaging |
Het |
Trf |
C |
T |
9: 103,094,700 (GRCm39) |
V92M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,539,717 (GRCm39) |
V34423A |
possibly damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,918,021 (GRCm39) |
|
probably benign |
Het |
Vmn2r19 |
A |
G |
6: 123,286,703 (GRCm39) |
Y112C |
probably damaging |
Het |
Zfp326 |
G |
T |
5: 106,026,641 (GRCm39) |
A15S |
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 |
|
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'- ACAGTGCCATAGCATGAGTCCACG -3'
(R):5'- TGCTCCTGATCCCGAGATGAGAAAG -3'
Sequencing Primer
(F):5'- ATGAGTCCACGGGGGTG -3'
(R):5'- AGCCTTTTCTGAGGGAAGCC -3'
|
Posted On |
2013-05-09 |