Incidental Mutation 'R7368:Polr3a'
| ID |
571954 |
| 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 |
045452-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24517144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 702
(D702E)
|
| 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: D702E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: D702E
| 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 |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,659,639 (GRCm39) |
F153I |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,094,765 (GRCm39) |
V564I |
probably damaging |
Het |
| Apol9b |
T |
C |
15: 77,620,134 (GRCm39) |
I310T |
possibly damaging |
Het |
| Arhgef28 |
C |
A |
13: 98,133,370 (GRCm39) |
V366F |
probably benign |
Het |
| B020004C17Rik |
C |
T |
14: 57,254,773 (GRCm39) |
T199I |
possibly damaging |
Het |
| Carmil2 |
C |
T |
8: 106,417,467 (GRCm39) |
T575I |
possibly damaging |
Het |
| Catsper1 |
A |
T |
19: 5,386,691 (GRCm39) |
Q308L |
unknown |
Het |
| Cpa2 |
T |
A |
6: 30,551,989 (GRCm39) |
S239T |
probably damaging |
Het |
| Cyrib |
A |
T |
15: 63,810,507 (GRCm39) |
|
probably null |
Het |
| Ddit3 |
G |
A |
10: 127,131,776 (GRCm39) |
G108D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,628,239 (GRCm39) |
I1473V |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,445,131 (GRCm39) |
V1520A |
probably benign |
Het |
| Edc4 |
TAGTAGCAGCAGCAGTAGCAGCAGCAG |
TAGTAGCAGCAGCAG |
8: 106,615,037 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,057,453 (GRCm39) |
I370F |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,134,457 (GRCm39) |
E272G |
possibly damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fkbp11 |
T |
C |
15: 98,622,307 (GRCm39) |
K189E |
unknown |
Het |
| Frem1 |
T |
A |
4: 82,884,381 (GRCm39) |
E1190D |
probably benign |
Het |
| Gabrg2 |
A |
C |
11: 41,867,390 (GRCm39) |
Y76* |
probably null |
Het |
| Gm11437 |
T |
A |
11: 84,058,298 (GRCm39) |
|
probably benign |
Het |
| Gm8947 |
C |
A |
1: 151,068,847 (GRCm39) |
Q227K |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,717,496 (GRCm39) |
F279S |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,430,655 (GRCm39) |
I42T |
probably benign |
Het |
| Hdac5 |
A |
T |
11: 102,088,207 (GRCm39) |
V939E |
probably null |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Kitl |
A |
T |
10: 99,851,943 (GRCm39) |
I21F |
probably benign |
Het |
| Krt1 |
T |
C |
15: 101,755,307 (GRCm39) |
D484G |
probably damaging |
Het |
| Larp1 |
C |
A |
11: 57,938,904 (GRCm39) |
P527T |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,670,085 (GRCm39) |
V673A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Mmp27 |
G |
A |
9: 7,577,318 (GRCm39) |
V228M |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
G |
T |
11: 60,381,741 (GRCm39) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,424,384 (GRCm39) |
K26E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,741 (GRCm39) |
I777N |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,203,021 (GRCm39) |
R374* |
probably null |
Het |
| Nol8 |
T |
C |
13: 49,814,695 (GRCm39) |
S268P |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,107,968 (GRCm39) |
L1025Q |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,602 (GRCm39) |
S67P |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,325,078 (GRCm39) |
L140H |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,235,835 (GRCm39) |
N1382S |
probably benign |
Het |
| Pef1 |
T |
A |
4: 130,021,178 (GRCm39) |
L244* |
probably null |
Het |
| Phf11a |
T |
C |
14: 59,518,174 (GRCm39) |
E191G |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,659,798 (GRCm39) |
G1285D |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,221,993 (GRCm39) |
D566G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Scgb1b12 |
T |
C |
7: 32,033,992 (GRCm39) |
I84T |
probably damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,067,685 (GRCm39) |
D618E |
possibly damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,256 (GRCm39) |
V352E |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,430 (GRCm39) |
E410G |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
| Stra6 |
G |
A |
9: 58,058,543 (GRCm39) |
R468Q |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,921,188 (GRCm39) |
H924R |
unknown |
Het |
| Tbx18 |
C |
A |
9: 87,612,750 (GRCm39) |
V50L |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,833,321 (GRCm39) |
T845I |
probably benign |
Het |
| Usp15 |
T |
C |
10: 123,032,798 (GRCm39) |
D8G |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,821,355 (GRCm39) |
D1288E |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,437 (GRCm39) |
N201D |
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 |
|
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'- CCAAGCACACTGTAAGCAGG -3'
(R):5'- AGATTCACACAGCGCTCTC -3'
Sequencing Primer
(F):5'- GGACAACTGACCATGCTGATCTG -3'
(R):5'- ATTGAGTTACACCCCCAGTCTGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation