Incidental Mutation 'R8753:Polr3a'
ID |
663997 |
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 |
068619-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8753 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 24513702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 846
(E846*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
AlphaFold |
B2RXC6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026322
AA Change: E846*
|
SMART Domains |
Protein: ENSMUSP00000026322 Gene: ENSMUSG00000025280 AA Change: E846*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (59/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,332,706 (GRCm39) |
Y1496H |
probably damaging |
Het |
Acan |
G |
A |
7: 78,748,516 (GRCm39) |
E1096K |
possibly damaging |
Het |
Adprhl1 |
T |
C |
8: 13,272,118 (GRCm39) |
K1547E |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Arf4 |
T |
A |
14: 26,374,114 (GRCm39) |
|
probably benign |
Het |
Boc |
A |
T |
16: 44,320,775 (GRCm39) |
M295K |
|
Het |
C2cd3 |
T |
A |
7: 100,049,024 (GRCm39) |
|
probably null |
Het |
Calcrl |
C |
G |
2: 84,178,659 (GRCm39) |
G223A |
probably benign |
Het |
Calcrl |
C |
A |
2: 84,178,661 (GRCm39) |
M222I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Ccz1 |
A |
G |
5: 143,925,050 (GRCm39) |
C469R |
probably benign |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,223,958 (GRCm39) |
G251S |
probably damaging |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Cpox |
T |
A |
16: 58,498,391 (GRCm39) |
M408K |
probably damaging |
Het |
Crybb3 |
A |
G |
5: 113,226,247 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
T |
2: 13,313,377 (GRCm39) |
C3064* |
probably null |
Het |
Cxcl3 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTG |
5: 90,934,071 (GRCm39) |
|
probably benign |
Het |
Cyp4a31 |
A |
T |
4: 115,432,158 (GRCm39) |
S432C |
probably benign |
Het |
Ddias |
A |
T |
7: 92,508,668 (GRCm39) |
F416I |
probably damaging |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnttip2 |
A |
G |
3: 122,074,398 (GRCm39) |
T612A |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,400,867 (GRCm39) |
T1089A |
probably damaging |
Het |
Gm12117 |
A |
T |
11: 33,225,953 (GRCm39) |
L128M |
probably benign |
Het |
Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
Ibtk |
T |
C |
9: 85,610,819 (GRCm39) |
T285A |
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,301,223 (GRCm39) |
N818K |
unknown |
Het |
Itga10 |
T |
G |
3: 96,558,471 (GRCm39) |
L305R |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,125,223 (GRCm39) |
Y461H |
possibly damaging |
Het |
Macroh2a2 |
T |
C |
10: 61,585,113 (GRCm39) |
D177G |
possibly damaging |
Het |
Mbtps1 |
T |
C |
8: 120,235,601 (GRCm39) |
S1026G |
possibly damaging |
Het |
Msantd4 |
A |
G |
9: 4,385,013 (GRCm39) |
E246G |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,575,085 (GRCm39) |
I737V |
probably damaging |
Het |
Nav2 |
T |
G |
7: 49,102,320 (GRCm39) |
S373A |
probably benign |
Het |
Nbea |
T |
C |
3: 55,534,329 (GRCm39) |
Y2936C |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,307,542 (GRCm39) |
I1685F |
probably damaging |
Het |
Nt5c3 |
C |
G |
6: 56,860,677 (GRCm39) |
G293R |
probably damaging |
Het |
Or4f14c |
A |
T |
2: 111,940,802 (GRCm39) |
V265E |
probably benign |
Het |
Or52z1 |
T |
A |
7: 103,436,567 (GRCm39) |
I306F |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,613,999 (GRCm39) |
V484E |
probably benign |
Het |
Pcsk5 |
C |
T |
19: 17,446,408 (GRCm39) |
R1195Q |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
A |
G |
11: 71,942,704 (GRCm39) |
V861A |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,793,176 (GRCm39) |
Y1621C |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,539,540 (GRCm39) |
V455A |
possibly damaging |
Het |
Prr5l |
C |
T |
2: 101,571,723 (GRCm39) |
G118D |
probably damaging |
Het |
Pygl |
G |
T |
12: 70,242,400 (GRCm39) |
N685K |
probably damaging |
Het |
Rfx8 |
A |
G |
1: 39,757,600 (GRCm39) |
V56A |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,179,662 (GRCm39) |
D1341G |
probably benign |
Het |
Selenon |
T |
C |
4: 134,275,330 (GRCm39) |
T123A |
probably benign |
Het |
Slc23a1 |
T |
G |
18: 35,752,631 (GRCm39) |
K549Q |
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,841,443 (GRCm39) |
F430S |
probably damaging |
Het |
Smarcc2 |
G |
A |
10: 128,319,070 (GRCm39) |
V707M |
probably damaging |
Het |
St18 |
A |
G |
1: 6,916,015 (GRCm39) |
S887G |
probably damaging |
Het |
T2 |
T |
C |
17: 8,615,477 (GRCm39) |
|
probably benign |
Het |
Tbc1d16 |
A |
G |
11: 119,101,492 (GRCm39) |
L6P |
probably damaging |
Het |
Tcf7l2 |
T |
C |
19: 55,920,195 (GRCm39) |
L576P |
possibly damaging |
Het |
Tnr |
A |
G |
1: 159,677,936 (GRCm39) |
D107G |
probably benign |
Het |
Trpv1 |
G |
T |
11: 73,135,082 (GRCm39) |
K426N |
probably damaging |
Het |
Vmn1r15 |
A |
T |
6: 57,235,895 (GRCm39) |
L254F |
probably benign |
Het |
Vmn1r219 |
A |
T |
13: 23,347,191 (GRCm39) |
I127F |
probably damaging |
Het |
Zc3h14 |
A |
T |
12: 98,724,831 (GRCm39) |
E164D |
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 |
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 |
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'- TTCCCTTCAAACCCAAGGTGG -3'
(R):5'- TCTCTACTATAGGCAGTTCTTCAGC -3'
Sequencing Primer
(F):5'- CTTCAAACCCAAGGTGGTGGTAAG -3'
(R):5'- CCACTGGCTAGGAATGTGTAGC -3'
|
Posted On |
2021-03-08 |