Incidental Mutation 'R3001:Polr1a'
ID |
257321 |
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 |
040530-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3001 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71942628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1156
(V1156E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
|
AlphaFold |
O35134 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
AA Change: V1156E
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: V1156E
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: ENSMUST00000181028
|
Predicted Effect |
unknown
Transcript: ENSMUST00000205517
AA Change: V181E
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (47/48) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
T |
C |
1: 85,973,802 (GRCm39) |
W40R |
possibly damaging |
Het |
A2m |
A |
G |
6: 121,638,406 (GRCm39) |
S873G |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
Adcy6 |
T |
C |
15: 98,494,541 (GRCm39) |
T767A |
probably benign |
Het |
Bnip3 |
T |
C |
7: 138,496,430 (GRCm39) |
I93V |
probably benign |
Het |
Casq2 |
A |
G |
3: 102,052,517 (GRCm39) |
D269G |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
Chrd |
T |
G |
16: 20,556,195 (GRCm39) |
Y585* |
probably null |
Het |
Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
Dnai2 |
C |
T |
11: 114,641,297 (GRCm39) |
P374L |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,511,134 (GRCm39) |
F1289I |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
Fasn |
T |
C |
11: 120,700,671 (GRCm39) |
D2114G |
probably benign |
Het |
Fbxl17 |
T |
A |
17: 63,532,072 (GRCm39) |
E590D |
probably damaging |
Het |
Flnb |
G |
T |
14: 7,907,162 (GRCm38) |
R1245L |
probably benign |
Het |
Folh1 |
A |
C |
7: 86,372,519 (GRCm39) |
I678M |
probably damaging |
Het |
Hal |
G |
A |
10: 93,343,381 (GRCm39) |
A542T |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,910 (GRCm39) |
M252K |
probably damaging |
Het |
Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
Klhdc1 |
T |
A |
12: 69,302,983 (GRCm39) |
V173D |
possibly damaging |
Het |
Knop1 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTC |
7: 118,451,672 (GRCm39) |
|
probably benign |
Het |
Krt71 |
C |
T |
15: 101,648,906 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,955,825 (GRCm39) |
V657A |
probably benign |
Het |
Lrig1 |
G |
A |
6: 94,585,758 (GRCm39) |
S810L |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,871,290 (GRCm39) |
M2676L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,195,349 (GRCm39) |
S188T |
probably benign |
Het |
Mrgprb3 |
C |
T |
7: 48,293,232 (GRCm39) |
M106I |
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,468,526 (GRCm39) |
I311T |
probably damaging |
Het |
Ndufa8 |
T |
A |
2: 35,926,571 (GRCm39) |
E155V |
possibly damaging |
Het |
Nr4a1 |
A |
G |
15: 101,168,853 (GRCm39) |
|
probably null |
Het |
Or2a12 |
A |
G |
6: 42,904,888 (GRCm39) |
H241R |
probably damaging |
Het |
Orc3 |
T |
C |
4: 34,571,790 (GRCm39) |
T660A |
probably benign |
Het |
Otub2 |
T |
C |
12: 103,370,536 (GRCm39) |
S273P |
probably damaging |
Het |
Otulinl |
T |
C |
15: 27,664,792 (GRCm39) |
T55A |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,622,289 (GRCm39) |
L241P |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,516,946 (GRCm39) |
I1058N |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,143,996 (GRCm39) |
F359S |
possibly damaging |
Het |
Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
Pon2 |
A |
G |
6: 5,268,976 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
G |
A |
5: 145,096,386 (GRCm39) |
L236F |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,151,579 (GRCm39) |
I208V |
probably benign |
Het |
Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
Sacm1l |
T |
C |
9: 123,414,149 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,989,746 (GRCm39) |
Y230C |
probably damaging |
Het |
Sele |
G |
T |
1: 163,881,140 (GRCm39) |
G447C |
probably damaging |
Het |
Slc17a1 |
G |
A |
13: 24,062,564 (GRCm39) |
|
probably null |
Het |
Slc2a4 |
A |
T |
11: 69,836,751 (GRCm39) |
Y159* |
probably null |
Het |
Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
Tdrd1 |
C |
A |
19: 56,850,182 (GRCm39) |
Y981* |
probably null |
Het |
Tex15 |
T |
C |
8: 34,064,556 (GRCm39) |
Y1329H |
probably benign |
Het |
Tgif2 |
C |
G |
2: 156,686,114 (GRCm39) |
S2W |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,878,688 (GRCm39) |
M620V |
probably benign |
Het |
Tmeff2 |
C |
T |
1: 51,220,994 (GRCm39) |
A323V |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
C |
4: 3,569,588 (GRCm39) |
L34W |
probably damaging |
Het |
Tmtc4 |
A |
T |
14: 123,170,230 (GRCm39) |
|
probably null |
Het |
Trpm2 |
A |
T |
10: 77,766,368 (GRCm39) |
|
probably null |
Het |
Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
Tyk2 |
C |
A |
9: 21,020,617 (GRCm39) |
R938L |
probably benign |
Het |
Usp33 |
A |
T |
3: 152,063,579 (GRCm39) |
T18S |
probably damaging |
Het |
V1rd19 |
A |
T |
7: 23,703,310 (GRCm39) |
I259F |
probably benign |
Het |
Vmn2r24 |
A |
C |
6: 123,781,231 (GRCm39) |
Q479P |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
Het |
Wfdc6a |
C |
T |
2: 164,422,225 (GRCm39) |
V125I |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,930,085 (GRCm39) |
|
probably benign |
Het |
Zkscan17 |
A |
G |
11: 59,378,077 (GRCm39) |
C369R |
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 |
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 |
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'- CTTAGGTCATCACGGCCAAC -3'
(R):5'- AAGGCAAAGCAGACCTTCTGG -3'
Sequencing Primer
(F):5'- AACCAGGTTCCTGCTCGC -3'
(R):5'- CCTTCTGGGTCGCAGGTGAAG -3'
|
Posted On |
2015-01-11 |