Incidental Mutation 'R9055:Polr1a'
| ID |
688619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1a
|
| Ensembl Gene |
ENSMUSG00000049553 |
| Gene Name |
polymerase (RNA) I polypeptide A |
| Synonyms |
RPA194, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4 |
| MMRRC Submission |
068881-MU
|
| Accession Numbers |
Genbank: NM_009088; MGI: 1096397 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71909053-71984935 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71915069 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 111
(T111A)
|
| 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: T111A
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: T111A
| 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 |
possibly damaging
Transcript: ENSMUST00000206556
AA Change: T111A
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0697 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (68/70) |
| 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 |
|---|
| Ablim1 |
T |
A |
19: 57,041,966 (GRCm38) |
T753S |
probably benign |
Het |
| Acy3 |
A |
G |
19: 3,988,178 (GRCm38) |
E157G |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,283,986 (GRCm38) |
Y1609H |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,774,585 (GRCm38) |
A1018T |
possibly damaging |
Het |
| Ahsg |
T |
A |
16: 22,892,319 (GRCm38) |
W69R |
possibly damaging |
Het |
| Alox12 |
T |
G |
11: 70,253,077 (GRCm38) |
D159A |
probably damaging |
Het |
| Alox12b |
C |
G |
11: 69,164,058 (GRCm38) |
P296A |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,232,309 (GRCm38) |
I2507V |
probably benign |
Het |
| Apeh |
T |
C |
9: 108,085,846 (GRCm38) |
M670V |
possibly damaging |
Het |
| Aqp12 |
C |
T |
1: 93,006,905 (GRCm38) |
A168V |
probably benign |
Het |
| BC030499 |
A |
G |
11: 78,293,547 (GRCm38) |
D240G |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,471,874 (GRCm38) |
D388E |
probably damaging |
Het |
| Clp1 |
A |
T |
2: 84,723,922 (GRCm38) |
I301N |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,267,437 (GRCm38) |
F384L |
probably benign |
Het |
| Dnpep |
A |
T |
1: 75,315,161 (GRCm38) |
M238K |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,996,641 (GRCm38) |
|
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,716,077 (GRCm38) |
N98K |
probably benign |
Het |
| Egr3 |
T |
A |
14: 70,078,900 (GRCm38) |
N15K |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,915,023 (GRCm38) |
C25S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,422,630 (GRCm38) |
D745V |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,908,553 (GRCm38) |
D1310E |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,841,622 (GRCm38) |
F215S |
probably damaging |
Het |
| Gm10130 |
G |
A |
2: 150,323,833 (GRCm38) |
|
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,002,034 (GRCm38) |
R107Q |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,640,108 (GRCm38) |
H173L |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 132,237,114 (GRCm38) |
L146H |
probably damaging |
Het |
| Gpr88 |
A |
G |
3: 116,252,651 (GRCm38) |
S4P |
unknown |
Het |
| Gucy1a1 |
A |
G |
3: 82,109,126 (GRCm38) |
L185P |
possibly damaging |
Het |
| Hsd3b6 |
G |
T |
3: 98,806,668 (GRCm38) |
T105N |
probably damaging |
Het |
| Iqca |
T |
C |
1: 90,070,613 (GRCm38) |
Y546C |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,776,370 (GRCm38) |
I305N |
probably benign |
Het |
| Itgb3 |
G |
A |
11: 104,665,625 (GRCm38) |
W764* |
probably null |
Het |
| Klra8 |
G |
T |
6: 130,119,054 (GRCm38) |
R192S |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,931,487 (GRCm38) |
I358F |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 94,740,415 (GRCm38) |
D266G |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,832,058 (GRCm38) |
A219V |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,714,729 (GRCm38) |
|
probably benign |
Het |
| Nek9 |
A |
T |
12: 85,301,842 (GRCm38) |
C973S |
probably damaging |
Het |
| Olfr1309 |
A |
T |
2: 111,983,704 (GRCm38) |
Y123* |
probably null |
Het |
| Olfr267 |
G |
T |
4: 58,785,374 (GRCm38) |
A116E |
possibly damaging |
Het |
| Olfr891 |
T |
C |
9: 38,180,484 (GRCm38) |
Y113C |
probably damaging |
Het |
| Ostc |
C |
A |
3: 130,709,372 (GRCm38) |
E2* |
probably null |
Het |
| Ostc |
T |
A |
3: 130,709,371 (GRCm38) |
E2V |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,357,532 (GRCm38) |
C754* |
probably null |
Het |
| Prep |
C |
T |
10: 45,115,195 (GRCm38) |
T319M |
probably benign |
Het |
| Reg3b |
A |
C |
6: 78,372,903 (GRCm38) |
D142A |
possibly damaging |
Het |
| Retsat |
A |
G |
6: 72,606,953 (GRCm38) |
D537G |
probably benign |
Het |
| Rnf2 |
G |
A |
1: 151,476,279 (GRCm38) |
L109F |
probably damaging |
Het |
| Runx3 |
G |
T |
4: 135,175,345 (GRCm38) |
R262L |
probably damaging |
Het |
| Rwdd3 |
G |
T |
3: 121,159,222 (GRCm38) |
T112K |
probably benign |
Het |
| Scfd2 |
T |
C |
5: 74,531,270 (GRCm38) |
H117R |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,622,892 (GRCm38) |
V1321M |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,386,181 (GRCm38) |
E119G |
possibly damaging |
Het |
| Skint6 |
C |
A |
4: 113,238,150 (GRCm38) |
G104V |
probably damaging |
Het |
| Slc18a1 |
T |
A |
8: 69,068,171 (GRCm38) |
I199F |
possibly damaging |
Het |
| St18 |
C |
T |
1: 6,802,982 (GRCm38) |
R314* |
probably null |
Het |
| Sucla2 |
T |
G |
14: 73,581,628 (GRCm38) |
|
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,807,963 (GRCm38) |
H225L |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 133,055,417 (GRCm38) |
V126A |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,062,941 (GRCm38) |
I66T |
probably damaging |
Het |
| Tmem45a2 |
T |
C |
16: 57,040,752 (GRCm38) |
I237M |
probably benign |
Het |
| Traf3ip1 |
C |
T |
1: 91,501,011 (GRCm38) |
R167* |
probably null |
Het |
| Trav17 |
T |
G |
14: 53,806,863 (GRCm38) |
V30G |
probably damaging |
Het |
| Vmn1r54 |
A |
G |
6: 90,269,118 (GRCm38) |
N5D |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,274,607 (GRCm38) |
H518R |
probably benign |
Het |
| Washc3 |
A |
G |
10: 88,216,054 (GRCm38) |
T102A |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,303,440 (GRCm38) |
H49R |
probably damaging |
Het |
| Zfp276 |
T |
C |
8: 123,258,370 (GRCm38) |
F356L |
probably damaging |
Het |
| Zfp398 |
G |
T |
6: 47,866,385 (GRCm38) |
R457L |
possibly damaging |
Het |
| Zfp512 |
G |
T |
5: 31,480,189 (GRCm38) |
E541* |
probably null |
Het |
|
| Other mutations in Polr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Polr1a
|
APN |
6 |
71,948,486 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01834:Polr1a
|
APN |
6 |
71,948,462 (GRCm38) |
missense |
probably benign |
|
|
IGL01902:Polr1a
|
APN |
6 |
71,963,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02101:Polr1a
|
APN |
6 |
71,950,802 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02325:Polr1a
|
APN |
6 |
71,920,657 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02398:Polr1a
|
APN |
6 |
71,936,556 (GRCm38) |
splice site |
probably benign |
|
|
IGL02528:Polr1a
|
APN |
6 |
71,964,717 (GRCm38) |
missense |
probably benign |
|
|
IGL02555:Polr1a
|
APN |
6 |
71,920,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02613:Polr1a
|
APN |
6 |
71,967,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02693:Polr1a
|
APN |
6 |
71,963,846 (GRCm38) |
splice site |
probably benign |
|
|
IGL02892:Polr1a
|
APN |
6 |
71,931,696 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03059:Polr1a
|
APN |
6 |
71,936,512 (GRCm38) |
missense |
probably benign |
|
|
IGL03174:Polr1a
|
APN |
6 |
71,977,347 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
D4043:Polr1a
|
UTSW |
6 |
71,941,417 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0092:Polr1a
|
UTSW |
6 |
71,967,455 (GRCm38) |
splice site |
probably benign |
|
|
R0217:Polr1a
|
UTSW |
6 |
71,963,703 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0267:Polr1a
|
UTSW |
6 |
71,974,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0329:Polr1a
|
UTSW |
6 |
71,966,416 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0330:Polr1a
|
UTSW |
6 |
71,966,416 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0352:Polr1a
|
UTSW |
6 |
71,920,763 (GRCm38) |
splice site |
probably benign |
|
|
R0411:Polr1a
|
UTSW |
6 |
71,978,421 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0446:Polr1a
|
UTSW |
6 |
71,950,664 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0846:Polr1a
|
UTSW |
6 |
71,924,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Polr1a
|
UTSW |
6 |
71,967,916 (GRCm38) |
missense |
probably benign |
|
|
R1294:Polr1a
|
UTSW |
6 |
71,912,902 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1460:Polr1a
|
UTSW |
6 |
71,941,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1657:Polr1a
|
UTSW |
6 |
71,941,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1846:Polr1a
|
UTSW |
6 |
71,976,188 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1862:Polr1a
|
UTSW |
6 |
71,909,203 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1865:Polr1a
|
UTSW |
6 |
71,966,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1903:Polr1a
|
UTSW |
6 |
71,967,914 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1937:Polr1a
|
UTSW |
6 |
71,936,552 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2063:Polr1a
|
UTSW |
6 |
71,936,285 (GRCm38) |
splice site |
probably null |
|
|
R2071:Polr1a
|
UTSW |
6 |
71,976,074 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2084:Polr1a
|
UTSW |
6 |
71,950,809 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2377:Polr1a
|
UTSW |
6 |
71,972,826 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2410:Polr1a
|
UTSW |
6 |
71,974,882 (GRCm38) |
missense |
probably benign |
|
|
R3001:Polr1a
|
UTSW |
6 |
71,913,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3001:Polr1a
|
UTSW |
6 |
71,965,644 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,965,644 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3002:Polr1a
|
UTSW |
6 |
71,913,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3924:Polr1a
|
UTSW |
6 |
71,929,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4105:Polr1a
|
UTSW |
6 |
71,976,191 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4125:Polr1a
|
UTSW |
6 |
71,965,706 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4271:Polr1a
|
UTSW |
6 |
71,953,022 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4440:Polr1a
|
UTSW |
6 |
71,950,848 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4667:Polr1a
|
UTSW |
6 |
71,917,821 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4769:Polr1a
|
UTSW |
6 |
71,950,868 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4801:Polr1a
|
UTSW |
6 |
71,976,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4802:Polr1a
|
UTSW |
6 |
71,976,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4828:Polr1a
|
UTSW |
6 |
71,966,401 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4911:Polr1a
|
UTSW |
6 |
71,909,229 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5071:Polr1a
|
UTSW |
6 |
71,931,709 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5165:Polr1a
|
UTSW |
6 |
71,967,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Polr1a
|
UTSW |
6 |
71,967,907 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5239:Polr1a
|
UTSW |
6 |
71,913,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Polr1a
|
UTSW |
6 |
71,929,366 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5599:Polr1a
|
UTSW |
6 |
71,967,362 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5696:Polr1a
|
UTSW |
6 |
71,929,426 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5850:Polr1a
|
UTSW |
6 |
71,926,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6274:Polr1a
|
UTSW |
6 |
71,954,890 (GRCm38) |
splice site |
probably null |
|
|
R6526:Polr1a
|
UTSW |
6 |
71,929,443 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6578:Polr1a
|
UTSW |
6 |
71,976,041 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6660:Polr1a
|
UTSW |
6 |
71,967,374 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6892:Polr1a
|
UTSW |
6 |
71,964,712 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7274:Polr1a
|
UTSW |
6 |
71,920,516 (GRCm38) |
nonsense |
probably null |
|
|
R7291:Polr1a
|
UTSW |
6 |
71,941,456 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7311:Polr1a
|
UTSW |
6 |
71,950,879 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7431:Polr1a
|
UTSW |
6 |
71,926,659 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7479:Polr1a
|
UTSW |
6 |
71,936,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7607:Polr1a
|
UTSW |
6 |
71,913,021 (GRCm38) |
missense |
probably benign |
|
|
R7739:Polr1a
|
UTSW |
6 |
71,954,835 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7746:Polr1a
|
UTSW |
6 |
71,941,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7764:Polr1a
|
UTSW |
6 |
71,953,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7835:Polr1a
|
UTSW |
6 |
71,915,142 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8029:Polr1a
|
UTSW |
6 |
71,912,956 (GRCm38) |
nonsense |
probably null |
|
|
R8057:Polr1a
|
UTSW |
6 |
71,931,660 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8144:Polr1a
|
UTSW |
6 |
71,950,616 (GRCm38) |
missense |
probably benign |
|
|
R8170:Polr1a
|
UTSW |
6 |
71,920,749 (GRCm38) |
missense |
probably benign |
|
|
R8320:Polr1a
|
UTSW |
6 |
71,941,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8328:Polr1a
|
UTSW |
6 |
71,920,734 (GRCm38) |
missense |
probably benign |
|
|
R8331:Polr1a
|
UTSW |
6 |
71,976,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8362:Polr1a
|
UTSW |
6 |
71,964,667 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8511:Polr1a
|
UTSW |
6 |
71,920,520 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8709:Polr1a
|
UTSW |
6 |
71,974,848 (GRCm38) |
missense |
probably benign |
|
|
R8745:Polr1a
|
UTSW |
6 |
71,954,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8784:Polr1a
|
UTSW |
6 |
71,950,628 (GRCm38) |
missense |
probably benign |
|
|
R9088:Polr1a
|
UTSW |
6 |
71,931,783 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9211:Polr1a
|
UTSW |
6 |
71,966,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9228:Polr1a
|
UTSW |
6 |
71,954,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9240:Polr1a
|
UTSW |
6 |
71,963,677 (GRCm38) |
nonsense |
probably null |
|
|
R9267:Polr1a
|
UTSW |
6 |
71,965,558 (GRCm38) |
missense |
probably benign |
|
|
R9302:Polr1a
|
UTSW |
6 |
71,924,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9744:Polr1a
|
UTSW |
6 |
71,929,388 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGGTTGTTAGAGTCTAAAAGC -3'
(R):5'- GCAAGGGCCAAAACATTCTG -3'
Sequencing Primer
(F):5'- GTTAGAGTCTAAAAGCTATTGAGGC -3'
(R):5'- CCAAAACATTCTGGAGACTGCTTAGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation