Incidental Mutation 'R5546:Polr1a'
| ID |
436278 |
| 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 |
043104-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5546 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71906350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 389
(S389P)
|
| 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: S389P
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: S389P
| 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: ENSMUST00000205333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206823
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,806,832 (GRCm39) |
N385S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,581,633 (GRCm39) |
I1523N |
probably benign |
Het |
| Akna |
C |
T |
4: 63,313,196 (GRCm39) |
G309E |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,803 (GRCm39) |
N107D |
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,585,325 (GRCm39) |
E836D |
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,614,311 (GRCm39) |
S292P |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,529,976 (GRCm39) |
L500P |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,859 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ccdc107 |
T |
C |
4: 43,495,685 (GRCm39) |
L196P |
probably damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,007,094 (GRCm39) |
P551Q |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,161 (GRCm39) |
L1224P |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,474,232 (GRCm39) |
T178K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,185,702 (GRCm39) |
C146* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,507 (GRCm39) |
I264F |
probably damaging |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,939,583 (GRCm39) |
T3179M |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,705,477 (GRCm39) |
T2497S |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,989 (GRCm39) |
V776A |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,337,452 (GRCm39) |
T622N |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,526,218 (GRCm39) |
Y595H |
probably benign |
Het |
| Fam107a |
C |
T |
14: 8,298,764 (GRCm38) |
A121T |
probably benign |
Het |
| Gpatch11 |
C |
T |
17: 79,149,548 (GRCm39) |
Q183* |
probably null |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,890,765 (GRCm39) |
E291D |
probably benign |
Het |
| Hsf2bp |
T |
A |
17: 32,165,669 (GRCm39) |
I309F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,275,485 (GRCm39) |
|
probably null |
Het |
| Ide |
T |
G |
19: 37,249,623 (GRCm39) |
M910L |
unknown |
Het |
| Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,750,949 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,581,518 (GRCm39) |
Y768H |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,868 (GRCm39) |
V278A |
probably damaging |
Het |
| Mapkbp1 |
G |
A |
2: 119,849,724 (GRCm39) |
R732H |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,737,446 (GRCm39) |
I148V |
probably benign |
Het |
| Mast1 |
G |
C |
8: 85,642,889 (GRCm39) |
P969A |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,689,206 (GRCm39) |
V1261G |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,102 (GRCm39) |
H466Q |
probably benign |
Het |
| Npr2 |
T |
G |
4: 43,650,150 (GRCm39) |
V905G |
probably damaging |
Het |
| Oip5 |
T |
A |
2: 119,440,808 (GRCm39) |
I240F |
unknown |
Het |
| Or4c12 |
A |
G |
2: 89,773,929 (GRCm39) |
C177R |
probably damaging |
Het |
| Or5k8 |
G |
T |
16: 58,644,516 (GRCm39) |
Y185* |
probably null |
Het |
| Or8b12 |
T |
A |
9: 37,657,820 (GRCm39) |
M130K |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,388,480 (GRCm39) |
A24T |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,929,818 (GRCm39) |
G225W |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,944,806 (GRCm39) |
V175A |
probably benign |
Het |
| Rassf7 |
C |
A |
7: 140,796,973 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
A |
G |
8: 91,805,560 (GRCm39) |
I206V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,366,378 (GRCm39) |
H353Q |
probably benign |
Het |
| Rpn1 |
T |
G |
6: 88,070,841 (GRCm39) |
V237G |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,881,351 (GRCm39) |
I267F |
possibly damaging |
Het |
| Spop |
G |
T |
11: 95,376,669 (GRCm39) |
V241F |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,775,978 (GRCm39) |
A178V |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,969,366 (GRCm39) |
Y791H |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,478,052 (GRCm39) |
I113L |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,628 (GRCm39) |
E666G |
possibly damaging |
Het |
| Tekt5 |
G |
T |
16: 10,179,254 (GRCm39) |
A371E |
possibly damaging |
Het |
| Thap11 |
G |
A |
8: 106,582,548 (GRCm39) |
E186K |
probably damaging |
Het |
| Tk2 |
A |
T |
8: 104,974,315 (GRCm39) |
D45E |
possibly damaging |
Het |
| Tuba8 |
C |
A |
6: 121,199,872 (GRCm39) |
Y185* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,273,244 (GRCm39) |
Y2210N |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,239 (GRCm39) |
|
probably benign |
Het |
| Zar1l |
T |
C |
5: 150,436,365 (GRCm39) |
N237S |
probably damaging |
Het |
| Zfp607b |
A |
T |
7: 27,402,032 (GRCm39) |
T163S |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,577 (GRCm39) |
H202Q |
probably benign |
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 |
|
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'- TACCATCTGTCAGCTTCCAGGG -3'
(R):5'- TGTTAGCTGCTGACCCTCAC -3'
Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- TCACCAACATGTGATCGGAATC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation