Incidental Mutation 'R5239:Polr1a'
ID |
400589 |
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 |
042810-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5239 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71890021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 80
(H80R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000082094]
[ENSMUST00000206556]
[ENSMUST00000206879]
|
AlphaFold |
O35134 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055296
AA Change: H80R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: H80R
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: ENSMUST00000082094
|
SMART Domains |
Protein: ENSMUSP00000080743 Gene: ENSMUSG00000063884
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
Pfam:PPR_2
|
253 |
300 |
1.4e-10 |
PFAM |
Pfam:PPR_3
|
331 |
366 |
2.1e-4 |
PFAM |
low complexity region
|
671 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205842
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206556
AA Change: H80R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
Meta Mutation Damage Score |
0.6270 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (60/64) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
C |
2: 35,244,848 (GRCm39) |
N168S |
probably benign |
Het |
Adam3 |
T |
A |
8: 25,184,207 (GRCm39) |
T598S |
possibly damaging |
Het |
Ago1 |
G |
T |
4: 126,335,008 (GRCm39) |
H405N |
probably damaging |
Het |
Atp8b4 |
T |
C |
2: 126,234,781 (GRCm39) |
|
probably null |
Het |
Baz1a |
A |
G |
12: 54,945,129 (GRCm39) |
S1409P |
probably damaging |
Het |
Brinp2 |
T |
C |
1: 158,078,908 (GRCm39) |
E305G |
probably benign |
Het |
Bub1 |
T |
A |
2: 127,663,616 (GRCm39) |
R262W |
probably damaging |
Het |
Cish |
T |
A |
9: 107,177,111 (GRCm39) |
|
probably null |
Het |
Clip4 |
T |
A |
17: 72,106,072 (GRCm39) |
I85K |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,953,532 (GRCm39) |
C187* |
probably null |
Het |
Ddx51 |
C |
A |
5: 110,801,514 (GRCm39) |
T54K |
probably benign |
Het |
Drc1 |
A |
T |
5: 30,520,467 (GRCm39) |
T603S |
probably benign |
Het |
Eif3l |
T |
A |
15: 78,973,995 (GRCm39) |
M470K |
possibly damaging |
Het |
Entpd2 |
A |
G |
2: 25,290,830 (GRCm39) |
T445A |
probably damaging |
Het |
Epha1 |
C |
A |
6: 42,341,944 (GRCm39) |
V369L |
possibly damaging |
Het |
Galnt9 |
T |
A |
5: 110,692,635 (GRCm39) |
L23H |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,804,866 (GRCm39) |
F399S |
probably benign |
Het |
Gm43972 |
G |
A |
5: 25,866,119 (GRCm39) |
|
noncoding transcript |
Het |
Gm6489 |
T |
A |
1: 31,326,351 (GRCm39) |
|
noncoding transcript |
Het |
Grik5 |
A |
T |
7: 24,764,895 (GRCm39) |
M82K |
probably damaging |
Het |
Hibch |
T |
C |
1: 52,904,767 (GRCm39) |
Y121H |
probably damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,560 (GRCm39) |
I495N |
possibly damaging |
Het |
Il1rl2 |
T |
C |
1: 40,404,255 (GRCm39) |
S459P |
probably benign |
Het |
Kel |
A |
T |
6: 41,665,048 (GRCm39) |
L254* |
probably null |
Het |
Lasp1 |
A |
G |
11: 97,690,686 (GRCm39) |
K23E |
probably damaging |
Het |
Lemd2 |
C |
A |
17: 27,422,773 (GRCm39) |
R207L |
possibly damaging |
Het |
Myh1 |
A |
T |
11: 67,106,051 (GRCm39) |
Q1222L |
probably benign |
Het |
Myh2 |
G |
A |
11: 67,083,269 (GRCm39) |
V1411I |
probably benign |
Het |
Myo1f |
T |
C |
17: 33,820,709 (GRCm39) |
F851L |
probably benign |
Het |
Myom3 |
G |
A |
4: 135,528,303 (GRCm39) |
|
probably benign |
Het |
Nbas |
C |
A |
12: 13,491,519 (GRCm39) |
L1464I |
probably benign |
Het |
Nr2e3 |
G |
T |
9: 59,857,059 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
T |
C |
17: 91,011,537 (GRCm39) |
D364G |
probably damaging |
Het |
Or2y1 |
A |
G |
11: 49,385,555 (GRCm39) |
H65R |
possibly damaging |
Het |
Or5p68 |
T |
A |
7: 107,945,853 (GRCm39) |
T112S |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,707,492 (GRCm39) |
S274T |
probably damaging |
Het |
Or9g4b |
T |
G |
2: 85,616,002 (GRCm39) |
I49S |
probably damaging |
Het |
Otog |
T |
A |
7: 45,936,859 (GRCm39) |
S1523T |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,587,821 (GRCm39) |
|
probably null |
Het |
Pkdcc |
C |
A |
17: 83,523,413 (GRCm39) |
H173Q |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,410,811 (GRCm39) |
L267P |
probably damaging |
Het |
Pwwp3a |
C |
T |
10: 80,064,255 (GRCm39) |
R14* |
probably null |
Het |
Rag1 |
G |
T |
2: 101,473,300 (GRCm39) |
A614E |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,735,553 (GRCm39) |
D4075G |
probably damaging |
Het |
Sdk2 |
C |
A |
11: 113,758,859 (GRCm39) |
R455L |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,589,227 (GRCm39) |
N232S |
probably benign |
Het |
Snd1 |
T |
C |
6: 28,545,524 (GRCm39) |
L360P |
probably damaging |
Het |
Tmem26 |
T |
A |
10: 68,587,096 (GRCm39) |
F181L |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,785,842 (GRCm39) |
M1512V |
probably benign |
Het |
Tsc22d1 |
T |
A |
14: 76,655,852 (GRCm39) |
I20N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r122 |
T |
C |
7: 20,868,023 (GRCm39) |
T11A |
possibly damaging |
Het |
Vpreb1a |
A |
T |
16: 16,686,592 (GRCm39) |
Y99* |
probably null |
Het |
Wnt9b |
A |
T |
11: 103,622,054 (GRCm39) |
|
probably null |
Het |
Zfp143 |
A |
G |
7: 109,693,559 (GRCm39) |
E604G |
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 |
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 |
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'- GGTCTGGCTTATAACCTGCCTC -3'
(R):5'- TTGGACAATGGACACTCAGGG -3'
Sequencing Primer
(F):5'- AATAACTTGAGCTTTCCCTGGG -3'
(R):5'- CACTCAGGGTGTACAGTTTCTAG -3'
|
Posted On |
2016-07-06 |