Incidental Mutation 'R9139:Polr3a'
| ID |
694236 |
| 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 # |
R9139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24519416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 664
(F664S)
|
| 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: F664S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: F664S
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,320,705 (GRCm39) |
V288A |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,810 (GRCm39) |
S135R |
|
Het |
| Axl |
G |
A |
7: 25,460,846 (GRCm39) |
T721I |
probably damaging |
Het |
| Blnk |
G |
A |
19: 40,922,962 (GRCm39) |
A388V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,641,631 (GRCm39) |
V189A |
probably damaging |
Het |
| Ccdc33 |
G |
C |
9: 57,983,842 (GRCm39) |
I452M |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,412,048 (GRCm39) |
T1199A |
probably benign |
Het |
| Chga |
G |
A |
12: 102,528,144 (GRCm39) |
V212M |
probably benign |
Het |
| Cspp1 |
T |
A |
1: 10,186,875 (GRCm39) |
M887K |
probably damaging |
Het |
| Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
| Cyp4f17 |
G |
T |
17: 32,743,868 (GRCm39) |
E349* |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,039 (GRCm39) |
D791E |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,935,397 (GRCm39) |
Y167H |
probably benign |
Het |
| Dqx1 |
G |
T |
6: 83,036,759 (GRCm39) |
Q254H |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,955,383 (GRCm39) |
T411A |
probably benign |
Het |
| Fancl |
C |
A |
11: 26,337,231 (GRCm39) |
A6E |
probably benign |
Het |
| Gabrr3 |
A |
G |
16: 59,227,830 (GRCm39) |
Q29R |
probably benign |
Het |
| Gtf2h2 |
A |
C |
13: 100,617,778 (GRCm39) |
L168R |
probably damaging |
Het |
| Hacl1 |
T |
A |
14: 31,338,338 (GRCm39) |
Q413L |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,439,837 (GRCm39) |
V372E |
probably damaging |
Het |
| Hr |
A |
T |
14: 70,795,079 (GRCm39) |
H208L |
possibly damaging |
Het |
| Htr6 |
T |
C |
4: 138,789,501 (GRCm39) |
R255G |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,681,370 (GRCm39) |
V747A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,620,291 (GRCm39) |
T508A |
probably benign |
Het |
| Klhdc8b |
A |
G |
9: 108,326,927 (GRCm39) |
V145A |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,754,924 (GRCm39) |
V73D |
probably damaging |
Het |
| Ksr1 |
T |
A |
11: 78,911,572 (GRCm39) |
M737L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,328,564 (GRCm39) |
Y4723C |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,397 (GRCm39) |
Y182C |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,252,398 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
A |
T |
19: 6,498,299 (GRCm39) |
T255S |
probably benign |
Het |
| Or10v9 |
A |
G |
19: 11,832,666 (GRCm39) |
L217P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,649 (GRCm39) |
T5S |
probably damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,707 (GRCm39) |
L264P |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,999 (GRCm39) |
T259S |
possibly damaging |
Het |
| Or52k2 |
T |
A |
7: 102,254,185 (GRCm39) |
I208N |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,108 (GRCm39) |
M304K |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,464,766 (GRCm39) |
V305E |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,757,128 (GRCm39) |
T568M |
unknown |
Het |
| Prb1a |
T |
A |
6: 132,185,306 (GRCm39) |
N109I |
unknown |
Het |
| Prdm2 |
T |
C |
4: 142,858,752 (GRCm39) |
I1513V |
probably benign |
Het |
| Prkd3 |
A |
C |
17: 79,269,969 (GRCm39) |
V564G |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,192,513 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf150 |
C |
T |
8: 83,590,588 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,038,261 (GRCm39) |
T786A |
probably benign |
Het |
| Scin |
A |
G |
12: 40,113,236 (GRCm39) |
V645A |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,557,398 (GRCm39) |
M177K |
probably benign |
Het |
| Slc2a6 |
G |
A |
2: 26,914,334 (GRCm39) |
S261L |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,796,115 (GRCm38) |
D1118V |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,709 (GRCm39) |
W351R |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,812,174 (GRCm39) |
G10S |
probably damaging |
Het |
| St8sia2 |
A |
G |
7: 73,616,513 (GRCm39) |
I175T |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,779 (GRCm39) |
N38I |
probably benign |
Het |
| Trim31 |
C |
T |
17: 37,209,382 (GRCm39) |
T46M |
possibly damaging |
Het |
| Trim31 |
A |
G |
17: 37,220,145 (GRCm39) |
K354E |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,922 (GRCm39) |
Q2260* |
probably null |
Het |
| Trpm1 |
T |
C |
7: 63,848,943 (GRCm39) |
I63T |
probably benign |
Het |
| Ugt2b37 |
T |
C |
5: 87,399,636 (GRCm39) |
K291E |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,627,162 (GRCm39) |
T499A |
probably benign |
Het |
| Vmn1r35 |
T |
C |
6: 66,655,933 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,277 (GRCm39) |
S186P |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,170 (GRCm39) |
M377L |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,878,637 (GRCm39) |
M1243R |
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 |
|
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'- AGTCGACCTCACTGACATATGC -3'
(R):5'- GGAGGTCAGGACTTCTACTGTG -3'
Sequencing Primer
(F):5'- GCACAAATGACTTAACGTTTTGTCCG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation