Incidental Mutation 'R5696:Polr1a'
ID |
450661 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5696 (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 A
at 71906410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 409
(F409I)
|
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: F409I
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: F409I
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
G |
A |
7: 139,569,159 (GRCm39) |
R186W |
probably benign |
Het |
Afg3l2 |
A |
G |
18: 67,540,529 (GRCm39) |
I660T |
probably damaging |
Het |
Amtn |
T |
A |
5: 88,532,944 (GRCm39) |
Y186* |
probably null |
Het |
Atosa |
A |
G |
9: 74,917,399 (GRCm39) |
E666G |
probably benign |
Het |
Atrip |
A |
G |
9: 108,894,569 (GRCm39) |
S453P |
possibly damaging |
Het |
Bahcc1 |
T |
C |
11: 120,164,813 (GRCm39) |
L840P |
probably damaging |
Het |
Capn2 |
T |
C |
1: 182,306,165 (GRCm39) |
E527G |
possibly damaging |
Het |
Caprin2 |
A |
T |
6: 148,779,316 (GRCm39) |
Y164N |
possibly damaging |
Het |
Ccnh |
T |
A |
13: 85,344,446 (GRCm39) |
|
probably null |
Het |
Cdon |
G |
T |
9: 35,403,162 (GRCm39) |
V1091F |
possibly damaging |
Het |
Ceacam14 |
A |
G |
7: 17,548,267 (GRCm39) |
Y119C |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,745,611 (GRCm39) |
K445E |
possibly damaging |
Het |
Cfap46 |
A |
G |
7: 139,191,947 (GRCm39) |
S2357P |
probably damaging |
Het |
Commd4 |
A |
T |
9: 57,063,499 (GRCm39) |
S86R |
possibly damaging |
Het |
Cpsf6 |
A |
T |
10: 117,196,934 (GRCm39) |
|
probably benign |
Het |
Dag1 |
A |
T |
9: 108,086,646 (GRCm39) |
V165E |
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,065,008 (GRCm39) |
K2618* |
probably null |
Het |
Dnah17 |
A |
G |
11: 117,991,882 (GRCm39) |
Y1229H |
probably benign |
Het |
Endov |
T |
A |
11: 119,382,625 (GRCm39) |
L24Q |
probably damaging |
Het |
Fap |
C |
T |
2: 62,332,803 (GRCm39) |
V717M |
probably damaging |
Het |
Fbxl2 |
A |
G |
9: 113,815,546 (GRCm39) |
L239P |
probably damaging |
Het |
Fbxl5 |
A |
T |
5: 43,916,182 (GRCm39) |
V367D |
possibly damaging |
Het |
Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
Gbp8 |
C |
T |
5: 105,166,682 (GRCm39) |
V216I |
possibly damaging |
Het |
Gclm |
G |
A |
3: 122,059,936 (GRCm39) |
A239T |
probably benign |
Het |
Gm11569 |
C |
T |
11: 99,689,556 (GRCm39) |
|
probably benign |
Het |
Gnas |
C |
A |
2: 174,141,468 (GRCm39) |
|
probably benign |
Het |
Grb10 |
T |
A |
11: 11,883,566 (GRCm39) |
N508I |
probably benign |
Het |
Gykl1 |
T |
G |
18: 52,827,267 (GRCm39) |
I158M |
probably benign |
Het |
Ide |
G |
A |
19: 37,295,420 (GRCm39) |
T214M |
unknown |
Het |
Il12rb2 |
T |
A |
6: 67,272,262 (GRCm39) |
Q341H |
possibly damaging |
Het |
Ints1 |
T |
C |
5: 139,740,744 (GRCm39) |
E1946G |
probably benign |
Het |
Kdelr3 |
T |
C |
15: 79,410,100 (GRCm39) |
|
probably null |
Het |
Kif1b |
A |
C |
4: 149,358,306 (GRCm39) |
|
probably null |
Het |
Kri1 |
A |
G |
9: 21,191,533 (GRCm39) |
I320T |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lin9 |
T |
C |
1: 180,486,646 (GRCm39) |
S111P |
probably benign |
Het |
Lpcat2b |
C |
A |
5: 107,580,773 (GRCm39) |
P34Q |
probably damaging |
Het |
Ltk |
T |
A |
2: 119,590,080 (GRCm39) |
T49S |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,780,896 (GRCm39) |
H421Q |
probably benign |
Het |
Mapkbp1 |
T |
A |
2: 119,852,201 (GRCm39) |
|
probably null |
Het |
Mcm4 |
A |
G |
16: 15,443,434 (GRCm39) |
S830P |
probably damaging |
Het |
Nek10 |
T |
A |
14: 14,860,736 (GRCm38) |
|
probably null |
Het |
Nlrp9b |
A |
T |
7: 19,758,417 (GRCm39) |
R551S |
probably benign |
Het |
Nol4l |
T |
C |
2: 153,260,026 (GRCm39) |
T143A |
probably damaging |
Het |
Or1r1 |
T |
C |
11: 73,875,362 (GRCm39) |
H24R |
possibly damaging |
Het |
Or51g1 |
T |
A |
7: 102,633,748 (GRCm39) |
T208S |
probably benign |
Het |
Or6z5 |
T |
C |
7: 6,477,742 (GRCm39) |
|
probably null |
Het |
Or7a39 |
A |
T |
10: 78,715,919 (GRCm39) |
R304S |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,616,806 (GRCm39) |
A1812D |
probably damaging |
Het |
Plekhb1 |
C |
A |
7: 100,305,960 (GRCm39) |
G26C |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,702,625 (GRCm39) |
M1197K |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,335,828 (GRCm39) |
I2114V |
probably damaging |
Het |
Rbm27 |
T |
C |
18: 42,450,731 (GRCm39) |
Y449H |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,267,195 (GRCm39) |
D927G |
probably damaging |
Het |
Secisbp2 |
C |
A |
13: 51,833,857 (GRCm39) |
Q666K |
probably damaging |
Het |
Slc45a2 |
T |
C |
15: 11,001,219 (GRCm39) |
I106T |
probably damaging |
Het |
Slx4 |
G |
T |
16: 3,797,831 (GRCm39) |
Q1518K |
probably damaging |
Het |
Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
Son |
T |
C |
16: 91,468,301 (GRCm39) |
V306A |
possibly damaging |
Het |
Stab1 |
A |
G |
14: 30,882,178 (GRCm39) |
S506P |
probably benign |
Het |
Syne2 |
A |
C |
12: 76,040,919 (GRCm39) |
D3859A |
probably benign |
Het |
Tab1 |
T |
A |
15: 80,032,930 (GRCm39) |
Y71* |
probably null |
Het |
Tarbp1 |
A |
C |
8: 127,174,079 (GRCm39) |
M909R |
probably damaging |
Het |
Tex15 |
T |
G |
8: 34,063,220 (GRCm39) |
S1157R |
probably benign |
Het |
Tnni3 |
G |
A |
7: 4,523,453 (GRCm39) |
T120I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,747,888 (GRCm39) |
E4387G |
probably benign |
Het |
Ugt3a1 |
G |
A |
15: 9,361,534 (GRCm39) |
|
silent |
Het |
Unc5d |
T |
C |
8: 29,156,870 (GRCm39) |
I783V |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,923,474 (GRCm39) |
T266A |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,695,468 (GRCm39) |
V315I |
probably benign |
Het |
Zbtb48 |
G |
T |
4: 152,105,067 (GRCm39) |
H532N |
probably damaging |
Het |
Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
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 |
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'- CTCATTAAGGGCTAGGTTGAGTAAC -3'
(R):5'- GGAACAGGCCTTCCTTCTTC -3'
Sequencing Primer
(F):5'- ATGACTCCTCAGTGGCTA -3'
(R):5'- CTTCTTGCTTCTGAAACAGTGAG -3'
|
Posted On |
2017-01-03 |