Incidental Mutation 'R0446:Polr1a'
| ID |
39370 |
| 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 |
038647-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 71927648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055296]
[ENSMUST00000206556]
|
| AlphaFold |
O35134 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055296
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
| 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: ENSMUST00000206513
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206982
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,766 (GRCm39) |
T42A |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,730 (GRCm39) |
I181K |
probably damaging |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,992 (GRCm39) |
E82G |
probably benign |
Het |
| Bag1 |
G |
A |
4: 40,936,609 (GRCm39) |
T349I |
probably benign |
Het |
| Brip1 |
A |
T |
11: 86,048,427 (GRCm39) |
L305Q |
probably damaging |
Het |
| Cdipt |
A |
G |
7: 126,577,436 (GRCm39) |
T61A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,536,295 (GRCm39) |
D515G |
probably benign |
Het |
| Cpsf4 |
T |
A |
5: 145,114,054 (GRCm39) |
L171Q |
probably damaging |
Het |
| Cstpp1 |
G |
A |
2: 91,135,109 (GRCm39) |
T20I |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,918,009 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,873,101 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
G |
18: 37,986,643 (GRCm39) |
V1114A |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,452,348 (GRCm39) |
K211* |
probably null |
Het |
| Fam170a |
T |
A |
18: 50,413,699 (GRCm39) |
C55S |
possibly damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,572,788 (GRCm39) |
S119P |
probably benign |
Het |
| Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,254,760 (GRCm39) |
T894M |
possibly damaging |
Het |
| Gad1-ps |
C |
A |
10: 99,281,383 (GRCm39) |
|
noncoding transcript |
Het |
| Gss |
T |
C |
2: 155,409,665 (GRCm39) |
E257G |
probably benign |
Het |
| Klhdc1 |
A |
C |
12: 69,330,082 (GRCm39) |
S404R |
probably benign |
Het |
| Kmt2e |
T |
A |
5: 23,702,532 (GRCm39) |
|
probably null |
Het |
| Krt20 |
G |
A |
11: 99,328,602 (GRCm39) |
Q108* |
probably null |
Het |
| Lmnb1 |
T |
A |
18: 56,876,331 (GRCm39) |
S480T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,633 (GRCm39) |
M1015K |
probably benign |
Het |
| Mdm1 |
T |
G |
10: 117,987,961 (GRCm39) |
S290A |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,426,439 (GRCm39) |
F238I |
probably damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,984 (GRCm39) |
V189A |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,614 (GRCm39) |
E8K |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,282,659 (GRCm39) |
I747V |
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,886,238 (GRCm39) |
|
probably benign |
Het |
| Or10d3 |
A |
T |
9: 39,461,747 (GRCm39) |
I140N |
probably damaging |
Het |
| Or5p57 |
A |
T |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or5w20 |
T |
C |
2: 87,727,199 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,384 (GRCm39) |
S160T |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,478,024 (GRCm39) |
V305A |
probably benign |
Het |
| Or8b53 |
G |
T |
9: 38,667,114 (GRCm39) |
L43F |
probably damaging |
Het |
| Orc5 |
C |
T |
5: 22,751,455 (GRCm39) |
V85I |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,864,850 (GRCm39) |
D468G |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,375,110 (GRCm39) |
V1675E |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pltp |
A |
T |
2: 164,696,320 (GRCm39) |
N97K |
probably damaging |
Het |
| Prss42 |
G |
A |
9: 110,628,341 (GRCm39) |
V162I |
possibly damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,983,455 (GRCm39) |
Y269N |
probably damaging |
Het |
| Rftn2 |
A |
T |
1: 55,253,354 (GRCm39) |
I83K |
probably damaging |
Het |
| S1pr4 |
A |
T |
10: 81,334,823 (GRCm39) |
I217N |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,920,353 (GRCm39) |
K184R |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,839,814 (GRCm39) |
N156S |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,068,994 (GRCm39) |
H358L |
possibly damaging |
Het |
| Tex55 |
G |
A |
16: 38,649,064 (GRCm39) |
T15I |
probably benign |
Het |
| Tigit |
G |
T |
16: 43,482,634 (GRCm39) |
N33K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,707,878 (GRCm39) |
Y139C |
probably damaging |
Het |
| Trmt13 |
G |
A |
3: 116,376,275 (GRCm39) |
T372M |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,224 (GRCm39) |
M303K |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,417,207 (GRCm39) |
E2952G |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,389,920 (GRCm39) |
I4851F |
unknown |
Het |
| Zfand4 |
C |
T |
6: 116,265,015 (GRCm39) |
T160I |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,109,993 (GRCm39) |
T228A |
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 |
|
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 |
|
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'- ATTGGATGTAGCCAGCAGAGCTTC -3'
(R):5'- TCAGATGGGCATCCTGCCATTTC -3'
Sequencing Primer
(F):5'- GGCCTCCATGAGCATTCATTAG -3'
(R):5'- CCCTTGGATTTCATCACATGATGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation