Incidental Mutation 'R0048:Polr3a'
ID |
18508 |
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 |
038342-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0048 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 24519323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
AlphaFold |
B2RXC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026322
|
SMART Domains |
Protein: ENSMUSP00000026322 Gene: ENSMUSG00000025280
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: ENSMUST00000225526
|
Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.7%
- 10x: 82.5%
- 20x: 75.5%
|
Validation Efficiency |
94% (92/98) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,112,371 (GRCm39) |
E715G |
probably damaging |
Het |
Arid1b |
T |
C |
17: 5,364,309 (GRCm39) |
|
probably null |
Het |
Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
Btaf1 |
G |
T |
19: 36,980,924 (GRCm39) |
A1582S |
probably benign |
Het |
Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
Ccdc184 |
G |
A |
15: 98,066,341 (GRCm39) |
A49T |
probably damaging |
Het |
Cd109 |
A |
C |
9: 78,587,303 (GRCm39) |
Y657S |
possibly damaging |
Het |
Cfap53 |
A |
T |
18: 74,432,244 (GRCm39) |
Y44F |
probably benign |
Het |
Cped1 |
T |
A |
6: 22,119,601 (GRCm39) |
N353K |
probably benign |
Het |
Dcaf10 |
T |
G |
4: 45,374,262 (GRCm39) |
Y562* |
probably null |
Het |
Eno4 |
T |
C |
19: 58,952,970 (GRCm39) |
M328T |
possibly damaging |
Het |
Etv3l |
T |
C |
3: 87,462,275 (GRCm39) |
|
noncoding transcript |
Het |
Eya2 |
T |
A |
2: 165,557,931 (GRCm39) |
Y176N |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
T |
12: 24,662,150 (GRCm39) |
|
probably benign |
Het |
H60b |
T |
A |
10: 22,163,130 (GRCm39) |
M235K |
probably benign |
Het |
Hal |
T |
A |
10: 93,334,853 (GRCm39) |
Y395N |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
Inpp5j |
A |
G |
11: 3,451,417 (GRCm39) |
V463A |
probably damaging |
Het |
Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
Jmjd4 |
C |
A |
11: 59,344,778 (GRCm39) |
H244N |
probably benign |
Het |
Klkb1 |
G |
A |
8: 45,742,233 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,496,474 (GRCm39) |
Y1578F |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,295,971 (GRCm39) |
D3379E |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
Mblac1 |
A |
G |
5: 138,192,727 (GRCm39) |
Y23C |
probably damaging |
Het |
Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
Ncstn |
A |
G |
1: 171,897,528 (GRCm39) |
|
probably benign |
Het |
Nek9 |
T |
C |
12: 85,348,673 (GRCm39) |
T954A |
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,201,284 (GRCm39) |
Y126F |
possibly damaging |
Het |
Nr1d1 |
A |
G |
11: 98,661,304 (GRCm39) |
S321P |
probably benign |
Het |
Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,516,588 (GRCm39) |
I513V |
probably damaging |
Het |
Pls1 |
T |
C |
9: 95,669,116 (GRCm39) |
E35G |
probably damaging |
Het |
Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
Rabgap1l |
A |
G |
1: 160,454,939 (GRCm39) |
|
probably benign |
Het |
Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
Rbm46 |
A |
T |
3: 82,771,537 (GRCm39) |
S359R |
probably damaging |
Het |
Rhobtb3 |
A |
T |
13: 76,050,364 (GRCm39) |
*100R |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
Sgsm1 |
A |
G |
5: 113,416,616 (GRCm39) |
F629S |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
Slc12a2 |
A |
T |
18: 58,048,594 (GRCm39) |
|
probably benign |
Het |
Slc38a10 |
G |
T |
11: 120,001,138 (GRCm39) |
P561T |
probably benign |
Het |
Slc45a4 |
A |
G |
15: 73,477,285 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
Synpo2l |
A |
T |
14: 20,716,340 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,174,269 (GRCm39) |
Y846H |
probably damaging |
Het |
Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
Tigd2 |
C |
A |
6: 59,188,369 (GRCm39) |
T412K |
possibly damaging |
Het |
Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,653,504 (GRCm39) |
V1959E |
probably damaging |
Het |
Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,569,729 (GRCm39) |
V452M |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,369,572 (GRCm39) |
K650E |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,777,404 (GRCm39) |
Y887C |
probably 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 |
|
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 |
2013-03-25 |