Incidental Mutation 'R5401:Polr3a'
ID |
430013 |
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 |
042972-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5401 (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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (66/68) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
A |
G |
9: 39,962,338 (GRCm39) |
|
noncoding transcript |
Het |
1700025H01Rik |
G |
T |
16: 30,018,801 (GRCm39) |
|
noncoding transcript |
Het |
9330159F19Rik |
T |
C |
10: 29,101,136 (GRCm39) |
V503A |
probably benign |
Het |
Acacb |
A |
G |
5: 114,347,914 (GRCm39) |
N995S |
possibly damaging |
Het |
Anapc4 |
A |
G |
5: 53,020,991 (GRCm39) |
K630R |
probably benign |
Het |
Ankrd13a |
A |
C |
5: 114,930,234 (GRCm39) |
Q206H |
probably damaging |
Het |
Ano10 |
A |
T |
9: 122,090,356 (GRCm39) |
L319Q |
probably damaging |
Het |
Camkk2 |
T |
A |
5: 122,884,398 (GRCm39) |
D341V |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,413,279 (GRCm39) |
I606V |
probably benign |
Het |
Cdv3 |
G |
T |
9: 103,242,316 (GRCm39) |
|
probably benign |
Het |
Cep97 |
A |
G |
16: 55,745,315 (GRCm39) |
V155A |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,228,476 (GRCm39) |
E2204G |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,046,136 (GRCm39) |
*395W |
probably null |
Het |
Defa27 |
A |
G |
8: 21,805,710 (GRCm39) |
E50G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,670,812 (GRCm39) |
I480T |
probably benign |
Het |
Ep400 |
C |
A |
5: 110,831,037 (GRCm39) |
D2210Y |
unknown |
Het |
Fam170a |
T |
A |
18: 50,413,618 (GRCm39) |
S28T |
probably benign |
Het |
Fancc |
C |
A |
13: 63,550,767 (GRCm39) |
K18N |
probably damaging |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fndc8 |
T |
G |
11: 82,788,676 (GRCm39) |
S169A |
possibly damaging |
Het |
Get3 |
A |
T |
8: 85,745,173 (GRCm39) |
I298N |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,409,338 (GRCm39) |
Y4688H |
probably damaging |
Het |
Ighv11-2 |
A |
T |
12: 114,011,959 (GRCm39) |
D85E |
possibly damaging |
Het |
Kat14 |
T |
C |
2: 144,231,180 (GRCm39) |
F196L |
possibly damaging |
Het |
Kctd19 |
C |
T |
8: 106,109,617 (GRCm39) |
V942I |
probably benign |
Het |
Llgl1 |
A |
G |
11: 60,597,297 (GRCm39) |
S249G |
probably benign |
Het |
Map1a |
T |
C |
2: 121,130,153 (GRCm39) |
V323A |
probably damaging |
Het |
Or4m1 |
C |
A |
14: 50,557,566 (GRCm39) |
C242F |
probably damaging |
Het |
Phf21a |
C |
A |
2: 92,182,097 (GRCm39) |
T342K |
possibly damaging |
Het |
Piezo2 |
T |
A |
18: 63,217,811 (GRCm39) |
D1122V |
possibly damaging |
Het |
Pklr |
A |
G |
3: 89,049,173 (GRCm39) |
Y173C |
probably damaging |
Het |
Plcz1 |
G |
T |
6: 139,938,778 (GRCm39) |
|
probably null |
Het |
Prom1 |
A |
T |
5: 44,158,147 (GRCm39) |
Y845N |
probably damaging |
Het |
Qng1 |
C |
A |
13: 58,530,405 (GRCm39) |
A202S |
probably benign |
Het |
Ret |
A |
T |
6: 118,158,936 (GRCm39) |
S159T |
probably benign |
Het |
Rfx1 |
C |
A |
8: 84,793,005 (GRCm39) |
|
probably null |
Het |
Scp2 |
A |
T |
4: 108,001,976 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
Smarcc2 |
C |
A |
10: 128,301,373 (GRCm39) |
D210E |
probably damaging |
Het |
Sptlc3 |
T |
C |
2: 139,478,643 (GRCm39) |
L534P |
possibly damaging |
Het |
Srrm1 |
A |
G |
4: 135,051,380 (GRCm39) |
|
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Sugct |
T |
A |
13: 17,032,455 (GRCm39) |
Q432H |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
Tsc1 |
C |
A |
2: 28,576,920 (GRCm39) |
S1073* |
probably null |
Het |
Vmn1r72 |
T |
C |
7: 11,403,843 (GRCm39) |
S202G |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,871 (GRCm39) |
V703A |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,785,765 (GRCm39) |
Y747N |
probably damaging |
Het |
Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
Het |
Zswim2 |
C |
T |
2: 83,755,589 (GRCm39) |
G104E |
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 |
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 |
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 |
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'- TCATTACCCGCACTGTCATGG -3'
(R):5'- TCAGTGAGAGGTCTGTGACG -3'
Sequencing Primer
(F):5'- GCTGCAGGCTACATCCACAG -3'
(R):5'- AGAGGTCTGTGACGTCCCTTG -3'
|
Posted On |
2016-09-06 |