Incidental Mutation 'R5319:Polr3a'
| ID |
406009 |
| 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 |
042902-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5319 (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: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (69/73) |
| 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 |
|---|
| 4930449I24Rik |
T |
C |
5: 146,441,506 (GRCm39) |
S218P |
probably benign |
Het |
| Ahctf1 |
A |
C |
1: 179,596,615 (GRCm39) |
S121A |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,491,479 (GRCm39) |
R174H |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,435,010 (GRCm39) |
|
probably null |
Het |
| Becn1 |
A |
G |
11: 101,179,629 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,561,549 (GRCm39) |
Y984C |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,324,213 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
G |
16: 34,543,542 (GRCm39) |
N633K |
probably damaging |
Het |
| Cdk5rap1 |
T |
A |
2: 154,177,489 (GRCm39) |
T577S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,630,940 (GRCm39) |
R307G |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,360,620 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,718,762 (GRCm39) |
D177E |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,256 (GRCm39) |
Y127H |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,052,983 (GRCm39) |
T98A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,265,058 (GRCm39) |
S4757P |
possibly damaging |
Het |
| Dvl2 |
C |
T |
11: 69,898,957 (GRCm39) |
T448I |
possibly damaging |
Het |
| E230016K23Rik |
T |
G |
11: 83,512,496 (GRCm39) |
|
noncoding transcript |
Het |
| Efl1 |
G |
T |
7: 82,323,714 (GRCm39) |
D219Y |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,807,793 (GRCm39) |
|
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,213,015 (GRCm39) |
T311S |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,224 (GRCm39) |
I27F |
probably damaging |
Het |
| Gm8521 |
A |
T |
Y: 3,859,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,771,860 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
C |
1: 36,143,259 (GRCm39) |
V398A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,321,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,148,370 (GRCm39) |
N621K |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,822,911 (GRCm39) |
F2785S |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,574,791 (GRCm39) |
G1182D |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,108 (GRCm39) |
I281T |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,229 (GRCm39) |
A2511T |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,170,886 (GRCm39) |
D328G |
possibly damaging |
Het |
| Myo1c |
G |
A |
11: 75,552,852 (GRCm39) |
E434K |
possibly damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,205 (GRCm39) |
S387P |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,215,197 (GRCm38) |
S272P |
probably benign |
Het |
| Nsrp1 |
T |
C |
11: 76,940,293 (GRCm39) |
H104R |
probably damaging |
Het |
| Odf1 |
T |
A |
15: 38,219,863 (GRCm39) |
S64T |
probably benign |
Het |
| Or2aa1 |
A |
T |
11: 59,480,477 (GRCm39) |
V146E |
probably damaging |
Het |
| Or4c106 |
T |
A |
2: 88,683,122 (GRCm39) |
I276K |
probably damaging |
Het |
| Or7g25 |
C |
T |
9: 19,160,329 (GRCm39) |
R122H |
possibly damaging |
Het |
| Pde4b |
C |
A |
4: 102,278,985 (GRCm39) |
|
probably benign |
Het |
| Phox2a |
C |
T |
7: 101,470,057 (GRCm39) |
T96M |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,622,114 (GRCm39) |
E478G |
possibly damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,486,983 (GRCm39) |
T517S |
probably benign |
Het |
| Ptk7 |
C |
T |
17: 46,883,603 (GRCm39) |
V821M |
probably damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,709,913 (GRCm39) |
V2M |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,152,529 (GRCm39) |
V380A |
probably benign |
Het |
| Rpl13a-ps1 |
A |
G |
19: 50,018,591 (GRCm39) |
V195A |
possibly damaging |
Het |
| Rsph1 |
C |
A |
17: 31,492,351 (GRCm39) |
V72F |
probably benign |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,072 (GRCm39) |
V640A |
probably benign |
Het |
| Simc1 |
T |
A |
13: 54,672,795 (GRCm39) |
V381E |
probably benign |
Het |
| Slc15a3 |
A |
T |
19: 10,833,296 (GRCm39) |
T438S |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,898,233 (GRCm39) |
V494M |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,674,058 (GRCm39) |
R335L |
probably benign |
Het |
| Trp53i13 |
A |
T |
11: 77,399,566 (GRCm39) |
N254K |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,609,922 (GRCm39) |
Y130C |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,130,415 (GRCm39) |
I174V |
probably damaging |
Het |
| Tsnax |
T |
A |
8: 125,742,458 (GRCm39) |
D62E |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,806,193 (GRCm39) |
E739D |
probably benign |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,209 (GRCm39) |
I184F |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,005,175 (GRCm39) |
V385A |
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 |
|
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'- TCATTACCCGCACTGTCATG -3'
(R):5'- AGTCTCAGTGAGAGGTCTGTGAC -3'
Sequencing Primer
(F):5'- GCTGCAGGCTACATCCACAG -3'
(R):5'- TGAGAGGTCTGTGACGTCCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation