Incidental Mutation 'R5223:Polr1a'
ID |
402425 |
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 |
042796-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5223 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71944891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1316
(R1316W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
|
AlphaFold |
O35134 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055296
AA Change: R1316W
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000060858 Gene: ENSMUSG00000049553 AA Change: R1316W
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: R341W
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
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 |
Aatk |
C |
T |
11: 119,904,278 (GRCm39) |
V273M |
possibly damaging |
Het |
Acin1 |
CCGC |
CC |
14: 54,880,398 (GRCm39) |
|
probably null |
Het |
Acvr1b |
T |
A |
15: 101,091,857 (GRCm39) |
C46S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,846,818 (GRCm39) |
H416L |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,406,072 (GRCm39) |
L1653Q |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,313,824 (GRCm39) |
V1533M |
possibly damaging |
Het |
Ccdc33 |
C |
T |
9: 57,940,267 (GRCm39) |
E502K |
possibly damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Cyp2a12 |
A |
T |
7: 26,735,888 (GRCm39) |
|
probably null |
Het |
Dnai4 |
T |
A |
4: 102,906,600 (GRCm39) |
S738C |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,816,496 (GRCm39) |
V2675A |
probably damaging |
Het |
Foxh1 |
T |
A |
15: 76,552,929 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gpnmb |
C |
T |
6: 49,033,139 (GRCm39) |
T539M |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,799,867 (GRCm39) |
E286G |
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,085,724 (GRCm39) |
|
probably null |
Het |
Hspg2 |
T |
C |
4: 137,271,225 (GRCm39) |
L2454P |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
Igkv6-32 |
T |
C |
6: 70,051,207 (GRCm39) |
S50G |
probably benign |
Het |
Il23r |
T |
A |
6: 67,463,154 (GRCm39) |
Y113F |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,434 (GRCm39) |
D636G |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,510,171 (GRCm39) |
W569* |
probably null |
Het |
Klra4 |
T |
A |
6: 130,039,110 (GRCm39) |
D94V |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,280,666 (GRCm39) |
H378L |
probably benign |
Het |
Lhx8 |
T |
A |
3: 154,027,281 (GRCm39) |
T254S |
probably damaging |
Het |
Lrch3 |
C |
T |
16: 32,734,767 (GRCm39) |
R86W |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,354,397 (GRCm39) |
N477I |
probably damaging |
Het |
Man2a1 |
T |
A |
17: 65,019,266 (GRCm39) |
I710K |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,229,826 (GRCm39) |
Y881N |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,402,074 (GRCm39) |
V1100E |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,659,519 (GRCm39) |
V83A |
probably benign |
Het |
Or4p8 |
T |
C |
2: 88,727,678 (GRCm39) |
T88A |
probably benign |
Het |
Or5p62 |
A |
G |
7: 107,771,915 (GRCm39) |
V12A |
probably benign |
Het |
Or7g35 |
T |
C |
9: 19,496,322 (GRCm39) |
V163A |
probably benign |
Het |
Pacs1 |
C |
T |
19: 5,195,169 (GRCm39) |
V472I |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,383,272 (GRCm39) |
Y789H |
probably damaging |
Het |
Pcdha2 |
T |
C |
18: 37,073,844 (GRCm39) |
Y492H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,216,106 (GRCm39) |
N2261D |
probably damaging |
Het |
Pex5l |
A |
T |
3: 33,012,945 (GRCm39) |
S15T |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,105,581 (GRCm39) |
N682S |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,539,463 (GRCm39) |
M335L |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,814,873 (GRCm39) |
H617R |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,454,591 (GRCm39) |
S296R |
probably benign |
Het |
Prpsap1 |
T |
C |
11: 116,378,974 (GRCm39) |
K65E |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,952,909 (GRCm39) |
E775G |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Rbbp8 |
C |
A |
18: 11,854,747 (GRCm39) |
A324E |
probably benign |
Het |
Rfx6 |
G |
T |
10: 51,554,092 (GRCm39) |
G63* |
probably null |
Het |
Rpl37a |
T |
C |
1: 72,751,308 (GRCm39) |
M47T |
probably benign |
Het |
Samm50 |
T |
G |
15: 84,084,831 (GRCm39) |
N187K |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,064,142 (GRCm39) |
|
probably null |
Het |
Slamf9 |
T |
C |
1: 172,303,799 (GRCm39) |
I48T |
possibly damaging |
Het |
Slc2a12 |
A |
G |
10: 22,577,931 (GRCm39) |
K576E |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,083,710 (GRCm39) |
G388S |
probably damaging |
Het |
Smtn |
G |
T |
11: 3,479,530 (GRCm39) |
N512K |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,258 (GRCm39) |
Y3040C |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,183,401 (GRCm39) |
V389E |
probably damaging |
Het |
Sult5a1 |
A |
T |
8: 123,872,161 (GRCm39) |
M227K |
probably damaging |
Het |
Thsd4 |
T |
C |
9: 59,964,325 (GRCm39) |
D389G |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,923,052 (GRCm39) |
V2545A |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,142,589 (GRCm39) |
I712F |
probably damaging |
Het |
Trim62 |
T |
C |
4: 128,803,204 (GRCm39) |
V418A |
probably damaging |
Het |
Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r66 |
T |
C |
7: 84,657,093 (GRCm39) |
D104G |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,015,251 (GRCm39) |
I371V |
probably benign |
Het |
Zfp273 |
T |
G |
13: 67,974,298 (GRCm39) |
C475W |
probably damaging |
Het |
Zfp738 |
G |
T |
13: 67,821,182 (GRCm39) |
T55K |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,183,971 (GRCm39) |
I978V |
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 |
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'- AGGCAGAGCTTACTAGGGTG -3'
(R):5'- CATATTAGGTGGTGGGGCCTAC -3'
Sequencing Primer
(F):5'- CAGAGCTTACTAGGGTGTCTGCAG -3'
(R):5'- GGGCCTACTGTCCTCTGAAACAC -3'
|
Posted On |
2016-07-22 |