Incidental Mutation 'R7607:Polr1a'
| ID |
588363 |
| 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 |
045677-MU
|
| Accession Numbers |
Genbank: NM_009088; MGI: 1096397 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71909053-71984935 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71913021 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000082094]
[ENSMUST00000206556]
[ENSMUST00000206879]
|
| AlphaFold |
O35134 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055296
AA Change: S75P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: S75P
| 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 |
probably benign
Transcript: ENSMUST00000082094
|
| SMART Domains |
Protein: ENSMUSP00000080743
Gene: ENSMUSG00000063884
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
227 |
N/A |
INTRINSIC |
|
Pfam:PPR_2
|
253 |
300 |
1.4e-10 |
PFAM |
|
Pfam:PPR_3
|
331 |
366 |
2.1e-4 |
PFAM |
|
low complexity region
|
671 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206284
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
AA Change: S75P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206879
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
T |
11: 70,237,557 |
H30Q |
probably damaging |
Het |
| 1700012P22Rik |
T |
A |
4: 144,419,762 |
H107L |
probably damaging |
Het |
| A930009A15Rik |
G |
A |
10: 115,581,989 |
|
probably null |
Het |
| Abca7 |
T |
C |
10: 80,011,833 |
L1779P |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,849,459 |
V1140I |
possibly damaging |
Het |
| Ano2 |
C |
T |
6: 125,712,419 |
A169V |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 35,909,107 |
Y101C |
possibly damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,683,011 |
|
probably null |
Het |
| Atp7b |
T |
G |
8: 22,011,506 |
K912T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,814,321 |
V112A |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 65,095,857 |
N1119S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,918,331 |
Q3099K |
possibly damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,984,981 |
V381A |
possibly damaging |
Het |
| Dctn1 |
C |
T |
6: 83,195,069 |
R948* |
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,923,940 |
T219A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 |
S422L |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,449 |
V78A |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,386,856 |
T650A |
possibly damaging |
Het |
| Exoc6b |
T |
A |
6: 84,989,409 |
K194N |
possibly damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,662,732 |
W1809* |
probably null |
Het |
| Frmd4a |
T |
A |
2: 4,591,936 |
L156* |
probably null |
Het |
| Gk5 |
A |
T |
9: 96,153,210 |
|
probably null |
Het |
| Gm3573 |
A |
G |
14: 42,189,750 |
F8L |
probably benign |
Het |
| Gm906 |
T |
C |
13: 50,250,260 |
E2G |
possibly damaging |
Het |
| Gm9767 |
G |
A |
10: 26,078,940 |
C130Y |
unknown |
Het |
| Grip2 |
T |
C |
6: 91,788,412 |
T30A |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,698,897 |
A65E |
possibly damaging |
Het |
| Gtf2e2 |
A |
G |
8: 33,776,465 |
R259G |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,419,177 |
I244F |
probably damaging |
Het |
| Gxylt2 |
G |
T |
6: 100,798,190 |
V357L |
possibly damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 120,097,911 |
1141 |
probably null |
Het |
| Igdcc4 |
C |
T |
9: 65,133,758 |
P1024S |
possibly damaging |
Het |
| Ino80 |
A |
T |
2: 119,382,269 |
|
probably null |
Het |
| Knl1 |
T |
C |
2: 119,095,133 |
F1881S |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,285,230 |
E518G |
unknown |
Het |
| Mlh1 |
A |
G |
9: 111,229,890 |
S689P |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,398,940 |
I589T |
possibly damaging |
Het |
| Mtmr12 |
C |
T |
15: 12,257,708 |
Q291* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,222,035 |
I33F |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,894,814 |
P504L |
probably benign |
Het |
| Ntrk3 |
C |
T |
7: 78,250,873 |
A573T |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,998,265 |
S7560R |
unknown |
Het |
| Olfr24 |
A |
G |
9: 18,754,882 |
F251S |
possibly damaging |
Het |
| Olfr617 |
A |
C |
7: 103,584,930 |
T303P |
probably damaging |
Het |
| Pde1c |
T |
C |
6: 56,150,628 |
T391A |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,288,976 |
H19L |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,524,752 |
A165E |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,654,783 |
E128G |
probably benign |
Het |
| Radil |
A |
T |
5: 142,494,795 |
M635K |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,506,613 |
I420T |
probably damaging |
Het |
| Rnase11 |
G |
A |
14: 51,049,572 |
T175I |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,563,738 |
P13S |
|
Het |
| Slc18a2 |
C |
A |
19: 59,284,358 |
A364D |
probably benign |
Het |
| Snph |
C |
T |
2: 151,594,586 |
D141N |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,392,264 |
K70R |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,926,713 |
D24G |
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,731,962 |
D165E |
possibly damaging |
Het |
| Spata31 |
T |
G |
13: 64,921,592 |
L518R |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,489,727 |
V4059M |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,679,979 |
Y261C |
probably damaging |
Het |
| Stoml1 |
A |
G |
9: 58,256,658 |
R87G |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,474,829 |
T40A |
unknown |
Het |
| Terb2 |
G |
T |
2: 122,186,475 |
G26W |
probably damaging |
Het |
| Tmem62 |
T |
C |
2: 120,996,440 |
I406T |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,844,732 |
V582I |
probably benign |
Het |
| Tpsg1 |
G |
T |
17: 25,373,210 |
G86V |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,669,535 |
D1480G |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,772,573 |
|
probably benign |
Het |
| Vmn1r48 |
C |
A |
6: 90,035,980 |
V288L |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,173,640 |
V397A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,067,308 |
N468D |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,066,231 |
T1432K |
possibly damaging |
Het |
| Zswim5 |
T |
A |
4: 116,986,742 |
D992E |
possibly damaging |
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 |
|
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 |
|
|
R9055:Polr1a
|
UTSW |
6 |
71,915,069 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
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'- GGTCTGGCTTATAACCTGCC -3'
(R):5'- AGGGTGTACAGTTTCTAGGTCC -3'
Sequencing Primer
(F):5'- AATAACTTGAGCTTTCCCTGGG -3'
(R):5'- GGTGTACAGTTTCTAGGTCCATAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation