Incidental Mutation 'R5443:Polr3a'
| ID |
427292 |
| 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 |
043008-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5443 (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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.9%
|
| Validation Efficiency |
99% (68/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
T |
10: 4,305,576 (GRCm39) |
E795D |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,484,745 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
G |
1: 58,273,151 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
G |
A |
15: 76,682,125 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,509,325 (GRCm39) |
E272G |
possibly damaging |
Het |
| C1qc |
G |
A |
4: 136,619,804 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
C |
A |
16: 8,482,203 (GRCm39) |
R26L |
probably benign |
Het |
| Cdh12 |
G |
T |
15: 21,237,935 (GRCm39) |
V57L |
probably benign |
Het |
| Cfap298 |
G |
T |
16: 90,724,099 (GRCm39) |
Q168K |
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,144,893 (GRCm39) |
Y23C |
probably benign |
Het |
| Crebrf |
G |
C |
17: 26,961,328 (GRCm39) |
V150L |
probably damaging |
Het |
| Ddx41 |
G |
T |
13: 55,683,104 (GRCm39) |
A201E |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,670,921 (GRCm39) |
K237E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,620 (GRCm39) |
S5199P |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,670,862 (GRCm39) |
I129T |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,070,712 (GRCm39) |
E2329G |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,775,622 (GRCm39) |
T27P |
possibly damaging |
Het |
| Fah |
T |
A |
7: 84,241,604 (GRCm39) |
R316W |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,064,519 (GRCm39) |
L4825P |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,381,648 (GRCm39) |
V804A |
probably damaging |
Het |
| Gm1322 |
G |
A |
2: 67,015,012 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
A |
7: 39,058,289 (GRCm39) |
K443N |
probably benign |
Het |
| Gnai2 |
T |
C |
9: 107,497,386 (GRCm39) |
I3V |
probably damaging |
Het |
| Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
| Klf15 |
C |
A |
6: 90,444,342 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Ly6a2 |
A |
T |
15: 75,005,568 (GRCm39) |
|
noncoding transcript |
Het |
| Maco1 |
A |
T |
4: 134,560,619 (GRCm39) |
C121* |
probably null |
Het |
| Necab2 |
A |
T |
8: 120,195,032 (GRCm39) |
M295L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,339,348 (GRCm39) |
Y208N |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,256 (GRCm39) |
Y232* |
probably null |
Het |
| Oacyl |
A |
G |
18: 65,883,253 (GRCm39) |
R611G |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,074,129 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
A |
17: 38,585,905 (GRCm39) |
M81K |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,262 (GRCm39) |
G266C |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,583 (GRCm39) |
Y52H |
probably benign |
Het |
| Or8k25 |
A |
C |
2: 86,243,937 (GRCm39) |
I153R |
possibly damaging |
Het |
| Pate4 |
A |
C |
9: 35,519,170 (GRCm39) |
S66A |
possibly damaging |
Het |
| Pigl |
T |
A |
11: 62,349,309 (GRCm39) |
C8* |
probably null |
Het |
| Plg |
G |
A |
17: 12,601,070 (GRCm39) |
A51T |
probably benign |
Het |
| Ppig |
A |
T |
2: 69,564,635 (GRCm39) |
D97V |
probably damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,846 (GRCm39) |
K517E |
possibly damaging |
Het |
| Prr16 |
A |
T |
18: 51,436,225 (GRCm39) |
S235C |
probably damaging |
Het |
| Psmd1 |
G |
A |
1: 86,017,905 (GRCm39) |
R572H |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,135 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
A |
T |
2: 151,924,043 (GRCm39) |
Y25F |
probably benign |
Het |
| Sema6d |
A |
T |
2: 124,498,756 (GRCm39) |
H222L |
probably damaging |
Het |
| Septin2 |
A |
G |
1: 93,425,174 (GRCm39) |
N110S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,113,607 (GRCm39) |
G340D |
possibly damaging |
Het |
| Smg5 |
T |
A |
3: 88,261,896 (GRCm39) |
L723H |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spo11 |
T |
C |
2: 172,831,152 (GRCm39) |
|
probably benign |
Het |
| Srarp |
T |
A |
4: 141,163,388 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,363,607 (GRCm39) |
Y109F |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,809,209 (GRCm39) |
M699K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,909,420 (GRCm39) |
F289S |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,645 (GRCm39) |
H371R |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,348,532 (GRCm39) |
I11N |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,108 (GRCm39) |
F677L |
probably benign |
Het |
| Zer1 |
C |
T |
2: 30,001,008 (GRCm39) |
G138S |
probably damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,227 (GRCm39) |
K439R |
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 |
|
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'- GTTCATTACCCGCACTGTCATG -3'
(R):5'- TCTCAGTGAGAGGTCTGTGACG -3'
Sequencing Primer
(F):5'- GCTGCAGGCTACATCCACAG -3'
(R):5'- AGAGGTCTGTGACGTCCCTTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation