Incidental Mutation 'IGL02892:Polr1a'
| ID |
363247 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr1a
|
| Ensembl Gene |
ENSMUSG00000049553 |
| Gene Name |
polymerase (RNA) I polypeptide A |
| Synonyms |
2900087K15Rik, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4, RPA194 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71886037-71956419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71908680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 502
(S502P)
|
| 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: S502P
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: S502P
| 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: ENSMUST00000205333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206823
|
| Coding Region Coverage |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,651,771 (GRCm39) |
L493* |
probably null |
Het |
| Adam32 |
T |
A |
8: 25,368,727 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,771 (GRCm39) |
D744G |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,912,268 (GRCm39) |
V530A |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,731,080 (GRCm39) |
N2095K |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,581,642 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Cd96 |
T |
C |
16: 45,870,160 (GRCm39) |
|
probably null |
Het |
| Cep350 |
G |
A |
1: 155,744,552 (GRCm39) |
T2089I |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,703,543 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
C |
T |
5: 30,702,051 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,336,970 (GRCm39) |
T280A |
probably benign |
Het |
| Coq5 |
T |
A |
5: 115,432,876 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,192 (GRCm39) |
I339V |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,518 (GRCm39) |
V47A |
possibly damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,585,544 (GRCm39) |
I151T |
probably benign |
Het |
| Defb7 |
T |
A |
8: 19,547,678 (GRCm39) |
F61Y |
probably benign |
Het |
| Diaph3 |
T |
A |
14: 87,104,066 (GRCm39) |
K773* |
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,158,458 (GRCm39) |
R347H |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,319,277 (GRCm39) |
V234I |
probably benign |
Het |
| Emilin3 |
C |
T |
2: 160,751,069 (GRCm39) |
V180M |
possibly damaging |
Het |
| Fam76b |
A |
T |
9: 13,740,117 (GRCm39) |
E50V |
probably null |
Het |
| Fat3 |
A |
T |
9: 16,288,858 (GRCm39) |
Y222N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Gucy1a2 |
G |
T |
9: 3,634,471 (GRCm39) |
G172C |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,551,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
G |
A |
8: 111,325,591 (GRCm39) |
V4667M |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,745,418 (GRCm39) |
S408G |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,359,821 (GRCm39) |
Q185R |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,494,802 (GRCm39) |
V301A |
probably damaging |
Het |
| Lrrc23 |
T |
C |
6: 124,751,399 (GRCm39) |
N220S |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,946,032 (GRCm39) |
M249K |
possibly damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,010,074 (GRCm39) |
D1162V |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,082,037 (GRCm39) |
I229V |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,756,925 (GRCm39) |
L160P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,338,094 (GRCm39) |
Y466C |
probably damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,062,342 (GRCm39) |
D525V |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,412,108 (GRCm39) |
K641R |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,045,425 (GRCm39) |
|
probably null |
Het |
| Prss16 |
A |
G |
13: 22,187,220 (GRCm39) |
V450A |
probably benign |
Het |
| Prss42 |
G |
A |
9: 110,628,458 (GRCm39) |
V201M |
probably damaging |
Het |
| Pus7 |
A |
T |
5: 23,959,554 (GRCm39) |
N322K |
probably damaging |
Het |
| Riok1 |
G |
T |
13: 38,224,041 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,984,561 (GRCm39) |
T64S |
probably benign |
Het |
| Rmnd5a |
T |
A |
6: 71,391,798 (GRCm39) |
M131L |
probably benign |
Het |
| Rtbdn |
C |
T |
8: 85,681,718 (GRCm39) |
R170C |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,226,030 (GRCm39) |
|
probably null |
Het |
| Slc2a6 |
A |
G |
2: 26,914,305 (GRCm39) |
Y271H |
probably benign |
Het |
| Slc5a5 |
T |
G |
8: 71,345,161 (GRCm39) |
T49P |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,593 (GRCm39) |
V84A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,623,204 (GRCm39) |
T148A |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,178 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,339,660 (GRCm39) |
V266E |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,384,804 (GRCm39) |
I511F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,343,479 (GRCm39) |
D128V |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,120 (GRCm39) |
L423P |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,679 (GRCm39) |
L145P |
probably damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,121 (GRCm39) |
D376E |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,144,642 (GRCm39) |
I1484F |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,102,554 (GRCm39) |
V943M |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,822 (GRCm39) |
K301R |
probably damaging |
Het |
| Vmn1r62 |
G |
T |
7: 5,679,202 (GRCm39) |
M294I |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,153,652 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,341,140 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,096,438 (GRCm39) |
W748R |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation