Incidental Mutation 'R0449:Polr3a'
ID |
39549 |
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 |
038649-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24534534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 34
(I34N)
|
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: I34N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026322 Gene: ENSMUSG00000025280 AA Change: I34N
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 |
possibly damaging
Transcript: ENSMUST00000223718
AA Change: I34N
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225014
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,989,885 (GRCm39) |
R813* |
probably null |
Het |
Accsl |
T |
A |
2: 93,696,419 (GRCm39) |
I60F |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,325,716 (GRCm39) |
G246D |
probably benign |
Het |
Ankrd13c |
A |
G |
3: 157,697,351 (GRCm39) |
I319V |
probably benign |
Het |
Bag6 |
T |
G |
17: 35,360,442 (GRCm39) |
V327G |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,304 (GRCm39) |
A130T |
probably benign |
Het |
Bend4 |
T |
C |
5: 67,555,583 (GRCm39) |
D541G |
probably damaging |
Het |
Birc6 |
A |
C |
17: 74,999,290 (GRCm39) |
T4673P |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,539,679 (GRCm39) |
R186G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,309,931 (GRCm39) |
F342L |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,367 (GRCm39) |
V748L |
probably damaging |
Het |
CN725425 |
G |
T |
15: 91,123,147 (GRCm39) |
R72I |
possibly damaging |
Het |
Col22a1 |
A |
G |
15: 71,834,520 (GRCm39) |
|
probably null |
Het |
Cops3 |
A |
G |
11: 59,709,243 (GRCm39) |
|
probably null |
Het |
Ctnnd1 |
G |
T |
2: 84,433,606 (GRCm39) |
Q940K |
possibly damaging |
Het |
Dtnb |
C |
T |
12: 3,641,971 (GRCm39) |
Q45* |
probably null |
Het |
Efr3a |
T |
A |
15: 65,714,553 (GRCm39) |
I280K |
probably damaging |
Het |
Eml6 |
A |
C |
11: 29,843,213 (GRCm39) |
V167G |
probably benign |
Het |
Fam83c |
T |
A |
2: 155,672,215 (GRCm39) |
M407L |
probably benign |
Het |
Fasn |
T |
C |
11: 120,701,894 (GRCm39) |
T1862A |
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,420,155 (GRCm39) |
I486T |
probably damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,565 (GRCm39) |
Y129H |
probably damaging |
Het |
Gpr75 |
A |
G |
11: 30,842,456 (GRCm39) |
S454G |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,502,653 (GRCm39) |
|
probably null |
Het |
Hsf4 |
A |
G |
8: 106,002,222 (GRCm39) |
T411A |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Il4 |
A |
T |
11: 53,509,432 (GRCm39) |
M1K |
probably null |
Het |
Ints11 |
G |
T |
4: 155,972,405 (GRCm39) |
R463L |
probably benign |
Het |
Ints4 |
G |
A |
7: 97,178,430 (GRCm39) |
E677K |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,647,216 (GRCm39) |
C50Y |
probably damaging |
Het |
Krt14 |
C |
A |
11: 100,098,221 (GRCm39) |
G21C |
unknown |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,633,569 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,634,478 (GRCm39) |
L1414P |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,428,687 (GRCm39) |
S684P |
probably damaging |
Het |
Mga |
T |
A |
2: 119,771,862 (GRCm39) |
V1574D |
probably damaging |
Het |
Mia2 |
T |
C |
12: 59,219,380 (GRCm39) |
|
probably null |
Het |
Mrpl21 |
T |
A |
19: 3,342,459 (GRCm39) |
|
probably benign |
Het |
Msh5 |
T |
A |
17: 35,260,458 (GRCm39) |
Q266L |
probably benign |
Het |
Mybpc1 |
C |
A |
10: 88,376,822 (GRCm39) |
C758F |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,400,422 (GRCm39) |
A2932T |
possibly damaging |
Het |
Nbas |
T |
A |
12: 13,569,109 (GRCm39) |
I2021K |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,796,393 (GRCm39) |
S424P |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,965 (GRCm39) |
V201E |
probably damaging |
Het |
Or2w3 |
A |
C |
11: 58,556,789 (GRCm39) |
I135L |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,187,103 (GRCm39) |
M224V |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,767,945 (GRCm39) |
M8T |
probably benign |
Het |
Or7g32 |
T |
A |
9: 19,389,388 (GRCm39) |
I53F |
possibly damaging |
Het |
Phlpp1 |
C |
T |
1: 106,278,308 (GRCm39) |
R907W |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,484,277 (GRCm39) |
V508A |
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,364,915 (GRCm39) |
Y685D |
probably damaging |
Het |
Pramel17 |
T |
C |
4: 101,694,158 (GRCm39) |
S242G |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,411,297 (GRCm39) |
V1434A |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,601,005 (GRCm39) |
D124V |
probably damaging |
Het |
Rad54b |
T |
A |
4: 11,606,131 (GRCm39) |
I513N |
probably benign |
Het |
Rbm12b1 |
A |
G |
4: 12,145,507 (GRCm39) |
N493S |
probably benign |
Het |
Rfx7 |
A |
T |
9: 72,517,586 (GRCm39) |
|
probably null |
Het |
Serpini1 |
A |
G |
3: 75,520,648 (GRCm39) |
K82E |
probably benign |
Het |
Slc27a6 |
T |
G |
18: 58,742,237 (GRCm39) |
|
probably null |
Het |
Slc35f2 |
G |
T |
9: 53,724,201 (GRCm39) |
L358F |
probably damaging |
Het |
Slc45a1 |
A |
C |
4: 150,727,762 (GRCm39) |
I158M |
probably damaging |
Het |
Slurp2 |
G |
A |
15: 74,614,955 (GRCm39) |
P62L |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,443,674 (GRCm39) |
H1949Y |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,634,715 (GRCm39) |
V865E |
possibly damaging |
Het |
Tlr4 |
A |
C |
4: 66,757,857 (GRCm39) |
I217L |
probably damaging |
Het |
Top1 |
C |
T |
2: 160,554,628 (GRCm39) |
R460* |
probably null |
Het |
Trpm3 |
T |
A |
19: 22,965,418 (GRCm39) |
S1638T |
probably benign |
Het |
Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
Vars1 |
T |
G |
17: 35,231,703 (GRCm39) |
|
probably null |
Het |
Xylt2 |
A |
G |
11: 94,557,159 (GRCm39) |
Y111H |
probably benign |
Het |
Zbed5 |
G |
A |
5: 129,930,567 (GRCm39) |
G172D |
probably damaging |
Het |
Zfp53 |
C |
T |
17: 21,729,095 (GRCm39) |
T376I |
probably benign |
Het |
Zfp937 |
G |
T |
2: 150,081,466 (GRCm39) |
V499L |
probably benign |
Het |
Zyx |
T |
A |
6: 42,328,247 (GRCm39) |
L152Q |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGGAGGAAAGAACACCCAGCC -3'
(R):5'- TCATCACTAGCTTGCCCACCAAGG -3'
Sequencing Primer
(F):5'- CATTGGTGGAGAGCACAAGAAAG -3'
(R):5'- TGACCTTGAGAGCAATAACGTC -3'
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Posted On |
2013-05-23 |