Incidental Mutation 'R7739:Polr1a'
| ID |
596422 |
| 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 |
045795-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71931819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 966
(I966T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
| AlphaFold |
O35134 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055296
AA Change: I966T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: I966T
| 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: ENSMUST00000206513
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,885,875 (GRCm39) |
A336S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,865,417 (GRCm39) |
S347P |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,352,983 (GRCm39) |
T326A |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,419 (GRCm39) |
I355T |
|
Het |
| Atp2a2 |
G |
A |
5: 122,607,768 (GRCm39) |
T247I |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,837,227 (GRCm39) |
D555E |
probably benign |
Het |
| Aurkb |
G |
T |
11: 68,939,058 (GRCm39) |
G94* |
probably null |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,986 (GRCm39) |
H37L |
unknown |
Het |
| Cabin1 |
A |
G |
10: 75,494,492 (GRCm39) |
L1629P |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,095,578 (GRCm39) |
T1840I |
possibly damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,916,186 (GRCm39) |
D314A |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,761,653 (GRCm39) |
L2246P |
probably damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,484,511 (GRCm39) |
M657L |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,453 (GRCm39) |
V87A |
probably damaging |
Het |
| Drd5 |
G |
T |
5: 38,477,421 (GRCm39) |
W138L |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,326,012 (GRCm39) |
D792N |
unknown |
Het |
| Fat2 |
C |
A |
11: 55,171,957 (GRCm39) |
E2919* |
probably null |
Het |
| Fgf20 |
A |
G |
8: 40,732,937 (GRCm39) |
V167A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,266 (GRCm39) |
V934A |
possibly damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,444,198 (GRCm39) |
A730D |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,325,483 (GRCm39) |
V335A |
probably benign |
Het |
| Havcr2 |
T |
G |
11: 46,347,384 (GRCm39) |
N120K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,038 (GRCm39) |
F4895L |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,847 (GRCm39) |
Y475H |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,933,620 (GRCm39) |
D85G |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,500,975 (GRCm39) |
S657G |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,584,816 (GRCm39) |
Y382N |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mtf1 |
T |
A |
4: 124,718,081 (GRCm39) |
C260S |
probably damaging |
Het |
| Naa35 |
A |
G |
13: 59,747,598 (GRCm39) |
D110G |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,501 (GRCm39) |
T808S |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,909 (GRCm39) |
W56R |
probably damaging |
Het |
| Pax9 |
A |
T |
12: 56,746,884 (GRCm39) |
H240L |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,993,529 (GRCm39) |
T413A |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,846,205 (GRCm39) |
V127A |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,381,324 (GRCm39) |
E170G |
probably damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,433 (GRCm39) |
|
probably null |
Het |
| Rab29 |
T |
A |
1: 131,799,923 (GRCm39) |
M166K |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,503,717 (GRCm39) |
E135G |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,463 (GRCm39) |
S365T |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,687 (GRCm39) |
E387K |
|
Het |
| Sh3d19 |
T |
C |
3: 86,031,038 (GRCm39) |
V734A |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,816,689 (GRCm39) |
T448S |
possibly damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,828 (GRCm39) |
I54K |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,799,494 (GRCm39) |
R227* |
probably null |
Het |
| Tcerg1 |
A |
G |
18: 42,657,039 (GRCm39) |
T174A |
unknown |
Het |
| Tenm2 |
T |
C |
11: 35,960,388 (GRCm39) |
S980G |
possibly damaging |
Het |
| Trim30a |
T |
C |
7: 104,079,386 (GRCm39) |
I156M |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,396 (GRCm39) |
D454G |
possibly damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,579 (GRCm39) |
*863K |
probably null |
Het |
| Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn1r33 |
C |
T |
6: 66,589,357 (GRCm39) |
D66N |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,043 (GRCm39) |
I268N |
probably damaging |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,080 (GRCm39) |
E582D |
probably benign |
Het |
| Vtcn1 |
T |
C |
3: 100,791,211 (GRCm39) |
F83S |
probably damaging |
Het |
| Wdr81 |
G |
T |
11: 75,332,811 (GRCm39) |
D684E |
|
Het |
| Wipi1 |
A |
G |
11: 109,470,535 (GRCm39) |
S295P |
probably damaging |
Het |
| Zfp27 |
A |
T |
7: 29,593,699 (GRCm39) |
H755Q |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,195,533 (GRCm39) |
F307L |
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 |
|
|
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 |
|
|
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'- TTTCCAAATGCTTTCCCTGAGG -3'
(R):5'- TTTGCTGGCCCTAGTATCAC -3'
Sequencing Primer
(F):5'- CCTGCTTGGACAGAGTGTC -3'
(R):5'- AGTATCACAGTGGGCATCTCCATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation