Incidental Mutation 'R8511:Polr1a'
ID |
655866 |
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 |
067888-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8511 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 71897504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 207
(H207N)
|
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: H207N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: H207N
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: H207N
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930512M02Rik |
T |
C |
11: 11,540,056 (GRCm39) |
H186R |
unknown |
Het |
6430548M08Rik |
A |
G |
8: 120,879,301 (GRCm39) |
N233S |
probably benign |
Het |
Acan |
A |
G |
7: 78,747,683 (GRCm39) |
D818G |
possibly damaging |
Het |
Adam22 |
G |
A |
5: 8,184,558 (GRCm39) |
T478I |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,490,897 (GRCm39) |
M481V |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,294,396 (GRCm39) |
*115R |
probably null |
Het |
Ahnak |
A |
G |
19: 8,989,719 (GRCm39) |
K3668E |
unknown |
Het |
Aldh6a1 |
G |
A |
12: 84,480,745 (GRCm39) |
T430I |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,626,468 (GRCm39) |
D17G |
|
Het |
Apol10b |
T |
C |
15: 77,469,211 (GRCm39) |
E322G |
probably benign |
Het |
Apol10b |
C |
G |
15: 77,469,210 (GRCm39) |
E322D |
probably benign |
Het |
Apol8 |
C |
T |
15: 77,634,273 (GRCm39) |
G101E |
probably benign |
Het |
Arhgef26 |
A |
T |
3: 62,336,350 (GRCm39) |
M630L |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,385,046 (GRCm39) |
L230P |
probably damaging |
Het |
Atg101 |
T |
C |
15: 101,188,503 (GRCm39) |
S203P |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,732,158 (GRCm39) |
T1996S |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
Cad |
A |
G |
5: 31,233,165 (GRCm39) |
K1869R |
probably benign |
Het |
Caskin1 |
A |
T |
17: 24,724,910 (GRCm39) |
I1233F |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,445,492 (GRCm39) |
L1770I |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,791,969 (GRCm39) |
N67S |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,262,692 (GRCm39) |
N626S |
|
Het |
Cuedc2 |
C |
A |
19: 46,319,358 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
A |
T |
7: 130,703,742 (GRCm39) |
N1275Y |
unknown |
Het |
Dnm3 |
A |
G |
1: 162,113,611 (GRCm39) |
V483A |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,864,801 (GRCm39) |
H718Q |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,918,847 (GRCm39) |
D50G |
probably damaging |
Het |
Egfr |
T |
G |
11: 16,846,949 (GRCm39) |
I782S |
probably damaging |
Het |
Elmod1 |
A |
T |
9: 53,820,095 (GRCm39) |
F298I |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,358,428 (GRCm39) |
Q364R |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,200,063 (GRCm39) |
S1004C |
probably damaging |
Het |
Fga |
A |
T |
3: 82,939,064 (GRCm39) |
K480* |
probably null |
Het |
Fhod3 |
A |
G |
18: 25,265,994 (GRCm39) |
T1561A |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,431,868 (GRCm39) |
Y200* |
probably null |
Het |
Foxj2 |
C |
T |
6: 122,808,404 (GRCm39) |
R115* |
probably null |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gpsm2 |
A |
G |
3: 108,589,399 (GRCm39) |
S580P |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,834,654 (GRCm39) |
S870P |
probably benign |
Het |
Hic2 |
T |
A |
16: 17,075,874 (GRCm39) |
N234K |
possibly damaging |
Het |
Ica1 |
A |
G |
6: 8,754,726 (GRCm39) |
F15L |
probably benign |
Het |
Immp1l |
G |
A |
2: 105,761,100 (GRCm39) |
R3H |
probably benign |
Het |
Iqca1l |
T |
A |
5: 24,750,906 (GRCm39) |
H559L |
possibly damaging |
Het |
Jak3 |
T |
A |
8: 72,138,194 (GRCm39) |
Y882N |
probably damaging |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Luzp1 |
A |
G |
4: 136,268,650 (GRCm39) |
D291G |
probably damaging |
Het |
Map3k19 |
C |
T |
1: 127,775,155 (GRCm39) |
E61K |
possibly damaging |
Het |
Mical3 |
A |
G |
6: 121,015,513 (GRCm39) |
I175T |
possibly damaging |
Het |
Nectin3 |
G |
A |
16: 46,284,363 (GRCm39) |
P107L |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
Pira1 |
A |
G |
7: 3,742,347 (GRCm39) |
L60P |
probably damaging |
Het |
Prokr2 |
A |
G |
2: 132,223,422 (GRCm39) |
V40A |
probably benign |
Het |
Prtg |
T |
C |
9: 72,798,156 (GRCm39) |
|
probably null |
Het |
Ptprs |
G |
A |
17: 56,754,440 (GRCm39) |
T200I |
probably damaging |
Het |
Ramp3 |
C |
T |
11: 6,626,709 (GRCm39) |
R139C |
probably benign |
Het |
Scfd2 |
A |
G |
5: 74,372,949 (GRCm39) |
V642A |
possibly damaging |
Het |
Scn11a |
T |
C |
9: 119,618,981 (GRCm39) |
K787R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,952,990 (GRCm39) |
V523A |
probably benign |
Het |
Smo |
A |
G |
6: 29,755,531 (GRCm39) |
Y401C |
probably damaging |
Het |
Stmn2 |
A |
G |
3: 8,574,615 (GRCm39) |
|
probably benign |
Het |
Stra6l |
G |
T |
4: 45,885,347 (GRCm39) |
G605V |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,055,647 (GRCm39) |
I4170V |
probably benign |
Het |
Tgm7 |
T |
A |
2: 120,924,141 (GRCm39) |
I594F |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,423,830 (GRCm39) |
L648P |
probably damaging |
Het |
Tmprss2 |
G |
T |
16: 97,369,662 (GRCm39) |
L371I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,579,866 (GRCm39) |
R23676G |
probably damaging |
Het |
Tvp23b |
T |
C |
11: 62,774,563 (GRCm39) |
I69T |
possibly damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,614,443 (GRCm39) |
D721V |
probably damaging |
Het |
Zan |
A |
T |
5: 137,445,108 (GRCm39) |
V1717E |
unknown |
Het |
Zmiz2 |
C |
T |
11: 6,353,190 (GRCm39) |
H658Y |
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 |
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 |
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'- GTCTCTTCAGAGCAGCACTC -3'
(R):5'- ATTTCTTGTGCACCGTGGC -3'
Sequencing Primer
(F):5'- ATAATCCCGTTTCGTGAGAGGC -3'
(R):5'- CACCGTGGCTGGGTATG -3'
|
Posted On |
2020-10-20 |