Incidental Mutation 'R5387:Polr3a'
ID |
425360 |
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 |
042959-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5387 (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: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
99% (80/81) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,408,092 (GRCm39) |
S140T |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,981,055 (GRCm39) |
S780P |
probably damaging |
Het |
Ankhd1 |
C |
A |
18: 36,767,697 (GRCm39) |
H1205N |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,202,356 (GRCm39) |
K139R |
probably benign |
Het |
Anp32b |
T |
G |
4: 46,468,573 (GRCm39) |
C114W |
probably damaging |
Het |
Ascl1 |
C |
T |
10: 87,328,551 (GRCm39) |
A134T |
probably damaging |
Het |
Atl2 |
C |
T |
17: 80,160,229 (GRCm39) |
E453K |
probably benign |
Het |
Aup1 |
C |
T |
6: 83,032,005 (GRCm39) |
A84V |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,804,044 (GRCm39) |
M332K |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,822,708 (GRCm39) |
V1107A |
probably damaging |
Het |
Cd33 |
G |
A |
7: 43,181,477 (GRCm39) |
Q114* |
probably null |
Het |
Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Defb22 |
C |
A |
2: 152,327,826 (GRCm39) |
A120S |
unknown |
Het |
Dnah7b |
A |
G |
1: 46,227,819 (GRCm39) |
I1347M |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,025,668 (GRCm39) |
I549T |
possibly damaging |
Het |
Esp15 |
T |
A |
17: 39,955,468 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
A |
G |
10: 85,860,518 (GRCm39) |
T42A |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,725,556 (GRCm39) |
I1021T |
probably benign |
Het |
Gad1 |
C |
A |
2: 70,394,195 (GRCm39) |
S7* |
probably null |
Het |
H2ac7 |
T |
A |
13: 23,758,841 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
C |
T |
17: 35,658,518 (GRCm39) |
T52M |
probably damaging |
Het |
H2-T3 |
C |
T |
17: 36,497,594 (GRCm39) |
G28R |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ift81 |
A |
G |
5: 122,693,598 (GRCm39) |
Y604H |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,842,785 (GRCm39) |
Y154C |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,742,441 (GRCm39) |
A846S |
probably benign |
Het |
Lnx2 |
G |
A |
5: 146,964,964 (GRCm39) |
P420S |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,794,216 (GRCm39) |
T427A |
probably damaging |
Het |
Lrrc43 |
G |
T |
5: 123,637,734 (GRCm39) |
|
probably null |
Het |
Mettl25b |
A |
T |
3: 87,837,318 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
C |
6: 121,861,353 (GRCm39) |
Y1325H |
probably damaging |
Het |
Naglu |
A |
T |
11: 100,967,550 (GRCm39) |
Y500F |
probably damaging |
Het |
Npy4r |
A |
G |
14: 33,868,940 (GRCm39) |
M116T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,896,959 (GRCm39) |
Y526C |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,801,972 (GRCm39) |
S472P |
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,625,183 (GRCm39) |
T31S |
probably benign |
Het |
Or12k8 |
T |
C |
2: 36,975,731 (GRCm39) |
T10A |
possibly damaging |
Het |
Otogl |
T |
A |
10: 107,616,794 (GRCm39) |
T1828S |
probably benign |
Het |
Pank2 |
C |
T |
2: 131,116,182 (GRCm39) |
T200I |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,804,567 (GRCm39) |
Y946C |
probably damaging |
Het |
Pde12 |
A |
T |
14: 26,387,608 (GRCm39) |
S437T |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,304,427 (GRCm39) |
K1710E |
possibly damaging |
Het |
Plcd3 |
A |
G |
11: 102,969,281 (GRCm39) |
S229P |
probably damaging |
Het |
Prkaa2 |
C |
A |
4: 104,897,374 (GRCm39) |
D280Y |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,321,303 (GRCm39) |
S620P |
probably damaging |
Het |
Rab33b |
A |
G |
3: 51,400,876 (GRCm39) |
T117A |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 156,985,335 (GRCm39) |
D804G |
possibly damaging |
Het |
Rbp3 |
A |
G |
14: 33,678,370 (GRCm39) |
T773A |
possibly damaging |
Het |
Rspry1 |
A |
G |
8: 95,364,914 (GRCm39) |
T185A |
possibly damaging |
Het |
Sec61a2 |
G |
T |
2: 5,887,356 (GRCm39) |
|
probably benign |
Het |
Setx |
C |
T |
2: 29,037,606 (GRCm39) |
R1364C |
probably benign |
Het |
Shtn1 |
G |
T |
19: 59,026,801 (GRCm39) |
L97M |
probably damaging |
Het |
Slc35f1 |
T |
C |
10: 52,984,260 (GRCm39) |
L340P |
probably damaging |
Het |
Slc45a1 |
T |
A |
4: 150,728,366 (GRCm39) |
|
probably benign |
Het |
Slmap |
T |
C |
14: 26,181,088 (GRCm39) |
E386G |
probably benign |
Het |
Smc2 |
C |
T |
4: 52,475,096 (GRCm39) |
A924V |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,286,359 (GRCm39) |
L766F |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,314,771 (GRCm39) |
|
probably null |
Het |
Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
Trappc2b |
A |
T |
11: 51,576,801 (GRCm39) |
D32E |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,548,541 (GRCm39) |
I26T |
possibly damaging |
Het |
Ttc7b |
G |
T |
12: 100,413,222 (GRCm39) |
Q199K |
possibly damaging |
Het |
Ubap2l |
T |
C |
3: 89,913,903 (GRCm39) |
Y975C |
probably benign |
Het |
Ubxn11 |
C |
A |
4: 133,850,737 (GRCm39) |
D196E |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,569,180 (GRCm39) |
H945R |
possibly damaging |
Het |
Usp15 |
A |
G |
10: 122,967,191 (GRCm39) |
I405T |
probably damaging |
Het |
Uty |
C |
T |
Y: 1,189,339 (GRCm39) |
E138K |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,399,252 (GRCm39) |
E107G |
probably benign |
Het |
Wbp1l |
T |
C |
19: 46,632,896 (GRCm39) |
|
probably null |
Het |
Zfp184 |
T |
G |
13: 22,133,810 (GRCm39) |
|
probably benign |
Het |
Zfp36 |
A |
C |
7: 28,077,293 (GRCm39) |
L205R |
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 |
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'- TCAGTGAGAGGTCTGTGACG -3'
Sequencing Primer
(F):5'- GCTGCAGGCTACATCCACAG -3'
(R):5'- AGAGGTCTGTGACGTCCCTTG -3'
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Posted On |
2016-08-04 |