Incidental Mutation 'R1644:Polr3a'
| ID |
173776 |
| 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 |
039680-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24520692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 607
(P607S)
|
| 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: P607S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: P607S
| 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 damaging
Transcript: ENSMUST00000223718
AA Change: P607S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225526
|
| Meta Mutation Damage Score |
0.1649 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,484,814 (GRCm39) |
R8* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,346 (GRCm39) |
H490L |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,875,932 (GRCm39) |
H417N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,298 (GRCm39) |
N151D |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,591,452 (GRCm39) |
N114S |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,117,298 (GRCm39) |
V926D |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,112,340 (GRCm39) |
I8N |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,578,711 (GRCm39) |
F746I |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,612 (GRCm39) |
S471P |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,448 (GRCm39) |
V979A |
probably benign |
Het |
| Ccdc88c |
C |
A |
12: 100,879,733 (GRCm39) |
R1789L |
probably damaging |
Het |
| Cckar |
A |
T |
5: 53,857,215 (GRCm39) |
N327K |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,956,334 (GRCm39) |
T1082A |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,672 (GRCm39) |
I719N |
probably damaging |
Het |
| Col27a1 |
C |
G |
4: 63,246,868 (GRCm39) |
|
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,663 (GRCm39) |
T179I |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,024,249 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,132,279 (GRCm39) |
V1141A |
probably benign |
Het |
| Dusp4 |
A |
G |
8: 35,285,633 (GRCm39) |
Y298C |
probably damaging |
Het |
| Efhc1 |
C |
A |
1: 21,037,625 (GRCm39) |
Y267* |
probably null |
Het |
| Eif2s1 |
T |
A |
12: 78,913,295 (GRCm39) |
|
probably null |
Het |
| Epo |
A |
G |
5: 137,481,417 (GRCm39) |
V169A |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,951,380 (GRCm39) |
Y586F |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,178,609 (GRCm39) |
T1484A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,007 (GRCm39) |
T1280A |
possibly damaging |
Het |
| Gm5828 |
T |
C |
1: 16,839,485 (GRCm39) |
|
noncoding transcript |
Het |
| Idh3b |
T |
C |
2: 130,123,430 (GRCm39) |
I187V |
possibly damaging |
Het |
| Kif13a |
A |
C |
13: 46,947,398 (GRCm39) |
V862G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,510,669 (GRCm39) |
D1327G |
probably damaging |
Het |
| Mfsd9 |
T |
A |
1: 40,812,958 (GRCm39) |
R452S |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,952,566 (GRCm39) |
R879C |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,319,437 (GRCm39) |
R260G |
possibly damaging |
Het |
| Npat |
T |
G |
9: 53,481,472 (GRCm39) |
L1060R |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,156 (GRCm39) |
H159L |
probably benign |
Het |
| Or4c126 |
A |
T |
2: 89,824,297 (GRCm39) |
T187S |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,759,731 (GRCm39) |
D309E |
probably benign |
Het |
| Or52n2b |
A |
C |
7: 104,566,015 (GRCm39) |
F163V |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,561 (GRCm39) |
V176A |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,803,192 (GRCm39) |
T296A |
possibly damaging |
Het |
| Polq |
C |
T |
16: 36,880,626 (GRCm39) |
A651V |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,566,015 (GRCm39) |
R424C |
probably damaging |
Het |
| Rsl1 |
G |
A |
13: 67,325,229 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,589,885 (GRCm39) |
S490P |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,079,603 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,834,595 (GRCm39) |
I492T |
possibly damaging |
Het |
| Stag1 |
T |
C |
9: 100,762,953 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,880,481 (GRCm39) |
Y294C |
probably damaging |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,757 (GRCm39) |
S212P |
probably benign |
Het |
| Tmcc1 |
A |
G |
6: 116,110,826 (GRCm39) |
S156P |
probably damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,670 (GRCm39) |
M139L |
probably benign |
Het |
| Vmn1r209 |
A |
C |
13: 22,990,652 (GRCm39) |
F13V |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,141 (GRCm39) |
E467G |
probably benign |
Het |
| Zdbf2 |
C |
T |
1: 63,348,131 (GRCm39) |
S2170L |
possibly damaging |
Het |
| Zfp277 |
G |
T |
12: 40,379,609 (GRCm39) |
|
probably null |
Het |
| Zfp62 |
T |
C |
11: 49,106,596 (GRCm39) |
I229T |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,324 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,927 (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 |
|
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'- TCTGCCACCTAGAAGAACGGAGAC -3'
(R):5'- AGCCAAGGCTTGCCAGATCATC -3'
Sequencing Primer
(F):5'- CCTGGGCCTTTGTAGAAACAATG -3'
(R):5'- CCCTACAATACTAAAGGTGTGCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation