Incidental Mutation 'IGL01348:Polr3a'
| ID |
75144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3a
|
| Ensembl Gene |
ENSMUSG00000025280 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide A |
| Synonyms |
RPC155, 9330175N20Rik, RPC1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24511831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 908
(D908E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
| AlphaFold |
B2RXC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026322
AA Change: D908E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: D908E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RPOLA_N
|
122 |
218 |
5e-43 |
BLAST |
|
RPOLA_N
|
248 |
553 |
1.09e-176 |
SMART |
|
Pfam:RNA_pol_Rpb1_4
|
728 |
834 |
4e-35 |
PFAM |
|
Pfam:RNA_pol_Rpb1_5
|
841 |
1318 |
1.2e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223718
|
| 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 catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,467,213 (GRCm39) |
E140G |
probably null |
Het |
| Adgrl3 |
A |
G |
5: 81,874,570 (GRCm39) |
T956A |
probably damaging |
Het |
| Aff4 |
G |
A |
11: 53,293,327 (GRCm39) |
S772N |
probably benign |
Het |
| Ark2n |
A |
G |
18: 77,761,613 (GRCm39) |
I233T |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,390 (GRCm39) |
I492M |
probably benign |
Het |
| Atf4 |
T |
C |
15: 80,140,728 (GRCm39) |
|
probably benign |
Het |
| Atrip |
A |
G |
9: 108,898,363 (GRCm39) |
S219P |
probably damaging |
Het |
| Axl |
G |
A |
7: 25,462,734 (GRCm39) |
R656W |
probably damaging |
Het |
| B3gnt3 |
T |
A |
8: 72,145,648 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,764,031 (GRCm39) |
V915A |
possibly damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,890 (GRCm39) |
V329A |
possibly damaging |
Het |
| Celf3 |
C |
A |
3: 94,395,535 (GRCm39) |
Q388K |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,328,591 (GRCm39) |
S292P |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
| Clec18a |
G |
A |
8: 111,798,245 (GRCm39) |
A423V |
probably damaging |
Het |
| Clnk |
T |
C |
5: 38,870,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,960,596 (GRCm39) |
H3273P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,805,817 (GRCm39) |
V157E |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,160,679 (GRCm39) |
I87T |
probably damaging |
Het |
| Ell3 |
A |
G |
2: 121,272,277 (GRCm39) |
S66P |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,950,798 (GRCm39) |
F631L |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,784 (GRCm39) |
V1289D |
probably damaging |
Het |
| Gm16372 |
T |
C |
12: 24,543,606 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
C |
T |
7: 141,718,909 (GRCm39) |
C173Y |
unknown |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,042 (GRCm39) |
H285L |
unknown |
Het |
| Gykl1 |
A |
T |
18: 52,827,808 (GRCm39) |
I339F |
possibly damaging |
Het |
| H60b |
A |
C |
10: 22,162,078 (GRCm39) |
N101T |
possibly damaging |
Het |
| Inpp4a |
C |
T |
1: 37,427,986 (GRCm39) |
T407I |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,861 (GRCm39) |
N331S |
possibly damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,783 (GRCm39) |
C430S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,995,564 (GRCm39) |
S1G |
probably null |
Het |
| Mybpc2 |
C |
A |
7: 44,165,352 (GRCm39) |
M372I |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,702,629 (GRCm39) |
T1768S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,188,606 (GRCm39) |
K1063E |
probably damaging |
Het |
| Nat8f5 |
A |
T |
6: 85,794,862 (GRCm39) |
F33I |
probably damaging |
Het |
| Nbeal2 |
T |
G |
9: 110,458,214 (GRCm39) |
N2119T |
probably damaging |
Het |
| Nek11 |
C |
T |
9: 105,270,112 (GRCm39) |
G37S |
probably damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,177,974 (GRCm39) |
N479D |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,772 (GRCm39) |
T477A |
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,063,177 (GRCm39) |
H144L |
probably benign |
Het |
| Or5h18 |
T |
A |
16: 58,848,157 (GRCm39) |
T38S |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,581,066 (GRCm39) |
V259A |
probably benign |
Het |
| Pmm1 |
A |
G |
15: 81,836,219 (GRCm39) |
V131A |
probably damaging |
Het |
| Psg29 |
A |
C |
7: 16,944,598 (GRCm39) |
R369S |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,547,765 (GRCm39) |
D211V |
probably damaging |
Het |
| Rdh9 |
A |
G |
10: 127,612,661 (GRCm39) |
N103S |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,286,020 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
A |
T |
13: 33,275,398 (GRCm39) |
Q174H |
probably benign |
Het |
| Sgip1 |
G |
T |
4: 102,772,353 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
T |
12: 75,781,767 (GRCm39) |
Y191N |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,036,051 (GRCm39) |
N641S |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 75,906,422 (GRCm39) |
N399S |
probably damaging |
Het |
| Snx16 |
C |
T |
3: 10,484,219 (GRCm39) |
A335T |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,664,866 (GRCm39) |
R355H |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,250,821 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,387,902 (GRCm39) |
D344E |
probably benign |
Het |
| Tek |
C |
A |
4: 94,747,895 (GRCm39) |
Q988K |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,979,299 (GRCm39) |
D143G |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,735,511 (GRCm39) |
K713R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,808,858 (GRCm39) |
E556V |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,855,015 (GRCm39) |
K1891N |
probably damaging |
Het |
| Trpv1 |
G |
A |
11: 73,129,078 (GRCm39) |
|
probably null |
Het |
| Usp37 |
T |
C |
1: 74,500,861 (GRCm39) |
S567G |
probably damaging |
Het |
| Zfp773 |
A |
T |
7: 7,138,314 (GRCm39) |
V107D |
possibly damaging |
Het |
|
| Other mutations in Polr3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Polr3a
|
APN |
14 |
24,525,931 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL00974:Polr3a
|
APN |
14 |
24,529,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01464:Polr3a
|
APN |
14 |
24,520,749 (GRCm39) |
splice site |
probably benign |
|
|
IGL01785:Polr3a
|
APN |
14 |
24,534,188 (GRCm39) |
nonsense |
probably null |
|
|
IGL01786:Polr3a
|
APN |
14 |
24,534,188 (GRCm39) |
nonsense |
probably null |
|
|
IGL01936:Polr3a
|
APN |
14 |
24,529,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02095:Polr3a
|
APN |
14 |
24,504,678 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02454:Polr3a
|
APN |
14 |
24,525,891 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02702:Polr3a
|
APN |
14 |
24,520,945 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02961:Polr3a
|
APN |
14 |
24,517,108 (GRCm39) |
nonsense |
probably null |
|
|
IGL03069:Polr3a
|
APN |
14 |
24,511,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0001:Polr3a
|
UTSW |
14 |
24,502,257 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Polr3a
|
UTSW |
14 |
24,519,323 (GRCm39) |
splice site |
probably benign |
|
|
R0157:Polr3a
|
UTSW |
14 |
24,529,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0445:Polr3a
|
UTSW |
14 |
24,504,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0449:Polr3a
|
UTSW |
14 |
24,534,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0597:Polr3a
|
UTSW |
14 |
24,534,202 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0604:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0703:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0754:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0767:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0816:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0817:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0819:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Polr3a
|
UTSW |
14 |
24,502,268 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1481:Polr3a
|
UTSW |
14 |
24,502,616 (GRCm39) |
missense |
probably null |
0.98 |
|
R1644:Polr3a
|
UTSW |
14 |
24,520,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Polr3a
|
UTSW |
14 |
24,534,188 (GRCm39) |
nonsense |
probably null |
|
|
R2363:Polr3a
|
UTSW |
14 |
24,525,960 (GRCm39) |
splice site |
probably null |
|
|
R3419:Polr3a
|
UTSW |
14 |
24,517,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Polr3a
|
UTSW |
14 |
24,526,169 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4296:Polr3a
|
UTSW |
14 |
24,503,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4611:Polr3a
|
UTSW |
14 |
24,502,576 (GRCm39) |
splice site |
probably null |
|
|
R4690:Polr3a
|
UTSW |
14 |
24,514,349 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4934:Polr3a
|
UTSW |
14 |
24,502,692 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4947:Polr3a
|
UTSW |
14 |
24,532,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5232:Polr3a
|
UTSW |
14 |
24,503,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5263:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5264:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5265:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5282:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5319:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5321:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5323:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5387:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5388:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5401:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5402:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5443:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5444:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5725:Polr3a
|
UTSW |
14 |
24,515,455 (GRCm39) |
splice site |
probably null |
|
|
R5841:Polr3a
|
UTSW |
14 |
24,500,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6408:Polr3a
|
UTSW |
14 |
24,536,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6704:Polr3a
|
UTSW |
14 |
24,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Polr3a
|
UTSW |
14 |
24,511,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Polr3a
|
UTSW |
14 |
24,510,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7368:Polr3a
|
UTSW |
14 |
24,517,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7800:Polr3a
|
UTSW |
14 |
24,534,455 (GRCm39) |
missense |
probably null |
0.83 |
|
R8753:Polr3a
|
UTSW |
14 |
24,513,702 (GRCm39) |
nonsense |
probably null |
|
|
R8785:Polr3a
|
UTSW |
14 |
24,502,383 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8848:Polr3a
|
UTSW |
14 |
24,500,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Polr3a
|
UTSW |
14 |
24,519,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Polr3a
|
UTSW |
14 |
24,519,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Polr3a
|
UTSW |
14 |
24,520,899 (GRCm39) |
missense |
probably benign |
|
|
R9309:Polr3a
|
UTSW |
14 |
24,510,067 (GRCm39) |
missense |
probably benign |
|
|
R9363:Polr3a
|
UTSW |
14 |
24,500,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Polr3a
|
UTSW |
14 |
24,503,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9585:Polr3a
|
UTSW |
14 |
24,502,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Polr3a
|
UTSW |
14 |
24,529,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-10-07 |
Incidental Mutation