Incidental Mutation 'R5264:Polr3a'
ID |
401620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polr3a
|
Ensembl Gene |
ENSMUSG00000025280 |
Gene Name |
polymerase (RNA) III (DNA directed) polypeptide A |
Synonyms |
RPC155, 9330175N20Rik, RPC1 |
MMRRC Submission |
042832-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5264 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24505009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1084
(I1084V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
AlphaFold |
B2RXC6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026322
AA Change: I1084V
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000026322 Gene: ENSMUSG00000025280 AA Change: I1084V
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223848
|
Meta Mutation Damage Score |
0.1175 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
98% (54/55) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ckap2l |
A |
T |
2: 129,127,299 (GRCm39) |
M293K |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Dnai7 |
A |
G |
6: 145,127,502 (GRCm39) |
V469A |
probably benign |
Het |
Efcab7 |
G |
A |
4: 99,735,372 (GRCm39) |
R132H |
probably benign |
Het |
Elovl4 |
T |
C |
9: 83,662,817 (GRCm39) |
T239A |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,481,621 (GRCm39) |
D240G |
probably damaging |
Het |
Fbln5 |
T |
A |
12: 101,723,703 (GRCm39) |
M346L |
possibly damaging |
Het |
Fbxl21 |
T |
C |
13: 56,680,136 (GRCm39) |
F174L |
probably benign |
Het |
Gns |
A |
G |
10: 121,216,090 (GRCm39) |
D279G |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,555,265 (GRCm39) |
V2502A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Large2 |
A |
G |
2: 92,205,088 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
A |
T |
5: 105,628,118 (GRCm39) |
I155F |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,353 (GRCm39) |
I140V |
probably benign |
Het |
Mrgprb5 |
G |
A |
7: 47,817,796 (GRCm39) |
S313L |
probably benign |
Het |
Nectin4 |
A |
T |
1: 171,211,273 (GRCm39) |
T266S |
probably benign |
Het |
Nsd1 |
C |
T |
13: 55,395,159 (GRCm39) |
A1023V |
possibly damaging |
Het |
Or51a39 |
T |
C |
7: 102,363,558 (GRCm39) |
T21A |
probably benign |
Het |
Paqr8 |
A |
G |
1: 21,005,332 (GRCm39) |
H162R |
possibly damaging |
Het |
Pclo |
G |
A |
5: 14,726,937 (GRCm39) |
|
probably benign |
Het |
Phactr4 |
T |
C |
4: 132,098,293 (GRCm39) |
D325G |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,361,532 (GRCm39) |
E1255V |
possibly damaging |
Het |
Polr3b |
A |
T |
10: 84,503,280 (GRCm39) |
Q399L |
probably benign |
Het |
Ppp1r35 |
G |
A |
5: 137,778,286 (GRCm39) |
|
probably benign |
Het |
Psd3 |
A |
T |
8: 68,166,377 (GRCm39) |
D919E |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,978,481 (GRCm39) |
T198A |
possibly damaging |
Het |
Ptpn14 |
T |
C |
1: 189,564,997 (GRCm39) |
|
probably null |
Het |
Ptprk |
A |
G |
10: 28,461,582 (GRCm39) |
Y39C |
probably damaging |
Het |
R3hdm4 |
A |
G |
10: 79,749,175 (GRCm39) |
Y75H |
probably benign |
Het |
Rsph4a |
A |
G |
10: 33,785,379 (GRCm39) |
Y430C |
probably damaging |
Het |
Samd12 |
C |
T |
15: 53,723,669 (GRCm39) |
C8Y |
probably damaging |
Het |
Sema3e |
A |
C |
5: 14,276,662 (GRCm39) |
L314F |
probably damaging |
Het |
Sis |
A |
G |
3: 72,857,089 (GRCm39) |
F401L |
probably damaging |
Het |
Smoc1 |
T |
A |
12: 81,151,474 (GRCm39) |
S64T |
probably damaging |
Het |
Socs5 |
T |
A |
17: 87,441,769 (GRCm39) |
H236Q |
probably damaging |
Het |
Spaca1 |
C |
A |
4: 34,049,863 (GRCm39) |
R45L |
possibly damaging |
Het |
Spag6 |
A |
G |
2: 18,750,324 (GRCm39) |
K457E |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,116,934 (GRCm39) |
|
probably null |
Het |
Tcp11l2 |
A |
G |
10: 84,449,524 (GRCm39) |
I496M |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,725,535 (GRCm39) |
I648V |
possibly damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,453 (GRCm39) |
Y161C |
probably damaging |
Het |
Wnt5b |
A |
T |
6: 119,410,813 (GRCm39) |
V171E |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,648,219 (GRCm39) |
K933E |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,676,198 (GRCm39) |
E373G |
probably damaging |
Het |
Zfp617 |
A |
G |
8: 72,686,885 (GRCm39) |
Y405C |
probably damaging |
Het |
Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
IGL01348:Polr3a
|
APN |
14 |
24,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATTACCCGCACTGTCATG -3'
(R):5'- TCTCAGTGAGAGGTCTGTGAC -3'
Sequencing Primer
(F):5'- GCTGCAGGCTACATCCACAG -3'
(R):5'- TGAGAGGTCTGTGACGTCCC -3'
|
Posted On |
2016-07-06 |