Incidental Mutation 'R9264:Polr3a'
| ID |
702443 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24520899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 587
(T587A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
| AlphaFold |
B2RXC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026322
AA Change: T587A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: T587A
| 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
AA Change: T587A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Abca15 |
A |
T |
7: 120,001,056 (GRCm39) |
I1531L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,844,914 (GRCm39) |
Y791C |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,229,187 (GRCm39) |
I262N |
probably damaging |
Het |
| Catsperg2 |
A |
T |
7: 29,397,613 (GRCm39) |
N1033K |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,333,878 (GRCm39) |
V310A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,951,830 (GRCm39) |
Y325C |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,436,727 (GRCm39) |
D197V |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,005,809 (GRCm39) |
I1647T |
unknown |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cspg4b |
G |
A |
13: 113,456,014 (GRCm39) |
V687M |
|
Het |
| Cyp4a10 |
T |
C |
4: 115,381,475 (GRCm39) |
S180P |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,135,173 (GRCm39) |
I1336V |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,177,784 (GRCm39) |
V946M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,813,900 (GRCm39) |
R347G |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,262 (GRCm39) |
D2368V |
probably damaging |
Het |
| Ganab |
T |
C |
19: 8,890,228 (GRCm39) |
I719T |
possibly damaging |
Het |
| Gm10944 |
C |
A |
10: 10,557,583 (GRCm39) |
A11D |
unknown |
Het |
| Gmcl1 |
T |
C |
6: 86,691,195 (GRCm39) |
M267V |
probably benign |
Het |
| Inhbe |
T |
A |
10: 127,186,427 (GRCm39) |
D251V |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,654 (GRCm39) |
R26Q |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,271 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,494,912 (GRCm39) |
D251E |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,028,344 (GRCm39) |
I416N |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,560,057 (GRCm39) |
N772S |
probably damaging |
Het |
| Ms4a20 |
T |
A |
19: 11,093,830 (GRCm39) |
M1L |
probably benign |
Het |
| Msh3 |
G |
T |
13: 92,485,812 (GRCm39) |
Q171K |
probably benign |
Het |
| Mslnl |
T |
G |
17: 25,961,506 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,489,176 (GRCm39) |
L116P |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,454 (GRCm39) |
T1351A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,274,998 (GRCm39) |
I353N |
probably damaging |
Het |
| Nprl3 |
A |
T |
11: 32,183,948 (GRCm39) |
N500K |
probably benign |
Het |
| Nup93 |
T |
A |
8: 95,019,348 (GRCm39) |
I181N |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,978 (GRCm39) |
I41V |
probably benign |
Het |
| Or1b1 |
G |
A |
2: 36,994,801 (GRCm39) |
T287I |
probably damaging |
Het |
| Or4p23 |
T |
C |
2: 88,576,776 (GRCm39) |
H152R |
probably damaging |
Het |
| Pcdh7 |
C |
A |
5: 58,286,663 (GRCm39) |
N1246K |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,166 (GRCm39) |
D377E |
probably benign |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Pramel1 |
T |
G |
4: 143,125,099 (GRCm39) |
L341R |
probably damaging |
Het |
| Rhot2 |
A |
T |
17: 26,060,740 (GRCm39) |
N210K |
probably damaging |
Het |
| Slc37a1 |
A |
G |
17: 31,519,459 (GRCm39) |
I12V |
probably benign |
Het |
| Spmip7 |
T |
A |
11: 11,414,678 (GRCm39) |
D141E |
|
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,955 (GRCm39) |
V511A |
probably benign |
Het |
| Stfa1 |
G |
A |
16: 36,100,930 (GRCm39) |
V57I |
unknown |
Het |
| Syne1 |
T |
G |
10: 5,212,793 (GRCm39) |
R3265S |
probably damaging |
Het |
| Tacc2 |
G |
T |
7: 130,228,533 (GRCm39) |
K1739N |
probably damaging |
Het |
| Tas2r143 |
A |
T |
6: 42,377,673 (GRCm39) |
M168L |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,031 (GRCm39) |
|
probably null |
Het |
| Ttc16 |
A |
G |
2: 32,653,017 (GRCm39) |
I604T |
possibly damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,393 (GRCm39) |
W64R |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,439,064 (GRCm39) |
H3561L |
|
Het |
| Vasp |
C |
T |
7: 18,993,376 (GRCm39) |
V276I |
unknown |
Het |
| Vwa3a |
A |
G |
7: 120,374,687 (GRCm39) |
N333S |
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,460,866 (GRCm39) |
N105D |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,942,663 (GRCm39) |
S613P |
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 |
|
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 |
|
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'- GACACTGAAGATCTGCTTTCCG -3'
(R):5'- TCTGGGAAGCAGACCTGAAG -3'
Sequencing Primer
(F):5'- AAGATCTGCTTTCCGGTCCACAG -3'
(R):5'- TTTAACGTGTGTGTGTTCCCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation