Incidental Mutation 'R7136:Polr3a'
| ID |
553092 |
| 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 |
045220-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24511883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 891
(R891Q)
|
| 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: R891Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: R891Q
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
G |
5: 138,560,610 (GRCm39) |
S262P |
probably damaging |
Het |
| Abcc2 |
A |
G |
19: 43,825,899 (GRCm39) |
E1512G |
probably damaging |
Het |
| Abcg2 |
T |
G |
6: 58,661,325 (GRCm39) |
Y459D |
possibly damaging |
Het |
| Amy1 |
T |
C |
3: 113,357,248 (GRCm39) |
Y197C |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,990,541 (GRCm39) |
I516T |
probably damaging |
Het |
| Capn12 |
T |
A |
7: 28,582,532 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
A |
18: 86,734,797 (GRCm39) |
L190Q |
probably damaging |
Het |
| Ccdc157 |
C |
T |
11: 4,098,592 (GRCm39) |
E305K |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,830 (GRCm39) |
S289P |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,239,264 (GRCm39) |
E1756K |
probably null |
Het |
| Chrd |
G |
T |
16: 20,553,272 (GRCm39) |
A183S |
possibly damaging |
Het |
| Cp |
C |
T |
3: 20,039,822 (GRCm39) |
R880* |
probably null |
Het |
| Cyp24a1 |
A |
T |
2: 170,336,063 (GRCm39) |
D191E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,020,613 (GRCm39) |
Y1252C |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,480,403 (GRCm39) |
D487G |
probably damaging |
Het |
| Fam227b |
T |
G |
2: 125,965,948 (GRCm39) |
Q159P |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,289,481 (GRCm39) |
I14T |
probably benign |
Het |
| Fbxl19 |
C |
A |
7: 127,349,217 (GRCm39) |
T129N |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,381,665 (GRCm39) |
F193L |
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,539,603 (GRCm39) |
|
probably null |
Het |
| Hgh1 |
A |
G |
15: 76,254,631 (GRCm39) |
M336V |
probably benign |
Het |
| Il12b |
T |
C |
11: 44,298,857 (GRCm39) |
L104P |
probably benign |
Het |
| Kcnh2 |
A |
T |
5: 24,537,989 (GRCm39) |
F125I |
probably benign |
Het |
| Kcnk7 |
A |
G |
19: 5,756,104 (GRCm39) |
H110R |
probably benign |
Het |
| Kdm3a |
G |
A |
6: 71,588,764 (GRCm39) |
P415L |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,830,077 (GRCm39) |
T610A |
probably benign |
Het |
| Krbox5 |
A |
G |
13: 67,991,111 (GRCm39) |
|
probably null |
Het |
| Lmbr1l |
C |
A |
15: 98,809,372 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,157,975 (GRCm39) |
M1436K |
unknown |
Het |
| Lrp1 |
C |
T |
10: 127,394,491 (GRCm39) |
C2574Y |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,859,587 (GRCm39) |
E258G |
possibly damaging |
Het |
| Mesp1 |
T |
C |
7: 79,442,906 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,934 (GRCm39) |
I108N |
probably benign |
Het |
| Nos1 |
G |
T |
5: 118,033,925 (GRCm39) |
R349L |
possibly damaging |
Het |
| Or5k3 |
C |
T |
16: 58,969,327 (GRCm39) |
T38I |
probably damaging |
Het |
| Or7c70 |
T |
C |
10: 78,683,615 (GRCm39) |
I45V |
probably benign |
Het |
| Osgin1 |
T |
A |
8: 120,168,176 (GRCm39) |
M1K |
probably null |
Het |
| Pde4dip |
C |
T |
3: 97,601,379 (GRCm39) |
S2346N |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,258 (GRCm39) |
M310V |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pink1 |
T |
C |
4: 138,044,769 (GRCm39) |
T323A |
probably damaging |
Het |
| Prkar1b |
C |
A |
5: 139,094,363 (GRCm39) |
C75F |
probably benign |
Het |
| Prss58 |
C |
T |
6: 40,876,987 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,516,631 (GRCm39) |
D63E |
possibly damaging |
Het |
| Qars1 |
T |
C |
9: 108,389,971 (GRCm39) |
I350T |
probably damaging |
Het |
| Qprt |
T |
C |
7: 126,707,984 (GRCm39) |
K149R |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,873,651 (GRCm39) |
D653E |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,381,703 (GRCm39) |
M481V |
possibly damaging |
Het |
| Rdx |
C |
T |
9: 51,997,745 (GRCm39) |
T573M |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,527,508 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
C |
16: 73,753,438 (GRCm39) |
E813G |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,791,600 (GRCm39) |
F1369I |
probably benign |
Het |
| Sh2d4b |
T |
A |
14: 40,562,209 (GRCm39) |
T319S |
probably benign |
Het |
| Slc7a15 |
G |
T |
12: 8,588,895 (GRCm39) |
N217K |
probably damaging |
Het |
| Stmn1 |
A |
G |
4: 134,198,088 (GRCm39) |
K42E |
probably damaging |
Het |
| Tbl2 |
T |
G |
5: 135,178,682 (GRCm39) |
W31G |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,669,845 (GRCm39) |
C114R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,832,254 (GRCm39) |
S711G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,666,904 (GRCm39) |
R11531G |
unknown |
Het |
| Ube2e3 |
T |
C |
2: 78,744,085 (GRCm39) |
Y105H |
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,280,059 (GRCm39) |
C753F |
probably benign |
Het |
| Vmn1r13 |
T |
C |
6: 57,187,239 (GRCm39) |
S133P |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,975 (GRCm39) |
Q474L |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,184,262 (GRCm39) |
I601T |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,802,587 (GRCm39) |
T81S |
possibly damaging |
Het |
| Wdr82 |
A |
G |
9: 106,048,532 (GRCm39) |
S39G |
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,451,080 (GRCm39) |
I108V |
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 |
|
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'- TGCCAAGAGAAGACAGAGCCTC -3'
(R):5'- GGAGGCAGCTATAAGGGTTTC -3'
Sequencing Primer
(F):5'- GACAGAGCCTCCAGAAGTCTG -3'
(R):5'- ATTCGAGTGCTTATAACCCAGGGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation