Incidental Mutation 'R4296:Polr3a'
ID |
323350 |
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 |
041656-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4296 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24503264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1190
(Q1190L)
|
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: Q1190L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026322 Gene: ENSMUSG00000025280 AA Change: Q1190L
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
T |
19: 43,811,513 (GRCm39) |
G993C |
probably damaging |
Het |
Abcc2 |
G |
C |
19: 43,811,514 (GRCm39) |
G993A |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,488,673 (GRCm39) |
H810L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,641 (GRCm39) |
D5G |
probably benign |
Het |
Aldh7a1 |
A |
T |
18: 56,678,035 (GRCm39) |
|
probably null |
Het |
Aox1 |
T |
A |
1: 58,096,559 (GRCm39) |
|
probably null |
Het |
Apbb1 |
G |
T |
7: 105,223,033 (GRCm39) |
Q193K |
probably benign |
Het |
Arl9 |
C |
A |
5: 77,154,396 (GRCm39) |
N41K |
probably damaging |
Het |
Armc1 |
A |
G |
3: 19,203,680 (GRCm39) |
M82T |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,381,960 (GRCm39) |
E526G |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,285,922 (GRCm39) |
R809C |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,033 (GRCm39) |
I84T |
probably damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,069,812 (GRCm39) |
V27A |
probably damaging |
Het |
Clec4f |
G |
A |
6: 83,629,557 (GRCm39) |
Q334* |
probably null |
Het |
Cpeb3 |
C |
T |
19: 37,151,389 (GRCm39) |
G329D |
possibly damaging |
Het |
Ctnnbl1 |
C |
T |
2: 157,661,490 (GRCm39) |
|
probably null |
Het |
Dip2b |
A |
T |
15: 100,079,217 (GRCm39) |
M810L |
probably benign |
Het |
Eml3 |
T |
C |
19: 8,908,773 (GRCm39) |
S158P |
probably damaging |
Het |
Eps8l2 |
G |
T |
7: 140,938,175 (GRCm39) |
E470* |
probably null |
Het |
Flt3l |
A |
G |
7: 44,783,428 (GRCm39) |
F146S |
probably damaging |
Het |
Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,295 (GRCm39) |
I53N |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,444,656 (GRCm39) |
V275D |
possibly damaging |
Het |
Harbi1 |
T |
A |
2: 91,543,100 (GRCm39) |
M187K |
possibly damaging |
Het |
Has3 |
T |
C |
8: 107,605,054 (GRCm39) |
V420A |
possibly damaging |
Het |
Huwe1 |
C |
A |
X: 150,671,444 (GRCm39) |
T1012K |
probably benign |
Het |
Iqcg |
G |
A |
16: 32,837,345 (GRCm39) |
|
probably benign |
Het |
Itga4 |
G |
A |
2: 79,103,143 (GRCm39) |
G111R |
probably damaging |
Het |
Keap1 |
A |
G |
9: 21,145,282 (GRCm39) |
S243P |
probably damaging |
Het |
Kmt2a |
C |
T |
9: 44,732,472 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Ltbp3 |
A |
T |
19: 5,806,610 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
C |
T |
8: 120,249,238 (GRCm39) |
C684Y |
possibly damaging |
Het |
Mcm3ap |
A |
T |
10: 76,343,171 (GRCm39) |
I1688F |
probably damaging |
Het |
Midn |
C |
T |
10: 79,987,553 (GRCm39) |
T21I |
probably damaging |
Het |
Naf1 |
C |
T |
8: 67,342,114 (GRCm39) |
P580S |
possibly damaging |
Het |
Nherf4 |
G |
A |
9: 44,160,158 (GRCm39) |
R349C |
probably benign |
Het |
Nlrp3 |
A |
T |
11: 59,440,487 (GRCm39) |
E688V |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,470,129 (GRCm39) |
H259R |
probably damaging |
Het |
Nxpe4 |
A |
G |
9: 48,310,284 (GRCm39) |
T516A |
probably damaging |
Het |
Oas1g |
T |
A |
5: 121,017,230 (GRCm39) |
T275S |
probably damaging |
Het |
Ogdh |
T |
G |
11: 6,299,374 (GRCm39) |
F743V |
probably damaging |
Het |
Or5aq6 |
T |
C |
2: 86,922,974 (GRCm39) |
T256A |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or6c215 |
C |
A |
10: 129,638,169 (GRCm39) |
C75F |
probably damaging |
Het |
Or6c75 |
C |
A |
10: 129,337,339 (GRCm39) |
C195* |
probably null |
Het |
Or9i1b |
A |
G |
19: 13,896,717 (GRCm39) |
E111G |
probably damaging |
Het |
Peg10 |
GGAT |
GGATCCCCATCATGAT |
6: 4,756,472 (GRCm39) |
|
probably benign |
Het |
Piezo1 |
T |
A |
8: 123,217,866 (GRCm39) |
Y819F |
probably damaging |
Het |
Plekhg2 |
C |
A |
7: 28,070,591 (GRCm39) |
G20C |
probably damaging |
Het |
Polq |
A |
G |
16: 36,881,663 (GRCm39) |
T997A |
possibly damaging |
Het |
Ppp1r15a |
T |
A |
7: 45,173,173 (GRCm39) |
K800* |
probably null |
Het |
Prkdc |
T |
A |
16: 15,555,769 (GRCm39) |
M2181K |
probably damaging |
Het |
Pskh1 |
C |
A |
8: 106,639,536 (GRCm39) |
A72E |
probably benign |
Het |
Purg |
T |
C |
8: 33,877,321 (GRCm39) |
Y320H |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,988,034 (GRCm39) |
|
probably null |
Het |
Rnps1 |
T |
A |
17: 24,644,089 (GRCm39) |
|
probably benign |
Het |
Scgb2b21 |
A |
T |
7: 33,219,233 (GRCm39) |
V57E |
probably benign |
Het |
Sdhaf2 |
A |
T |
19: 10,502,439 (GRCm39) |
I7N |
probably benign |
Het |
Six4 |
A |
G |
12: 73,150,899 (GRCm39) |
Y549H |
probably damaging |
Het |
Slc4a10 |
G |
T |
2: 62,064,772 (GRCm39) |
V209F |
possibly damaging |
Het |
Slc4a11 |
C |
A |
2: 130,526,927 (GRCm39) |
V734F |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,959,904 (GRCm39) |
M27K |
possibly damaging |
Het |
Tecrl |
A |
T |
5: 83,461,174 (GRCm39) |
C79* |
probably null |
Het |
Tgm3 |
G |
T |
2: 129,880,333 (GRCm39) |
V380L |
possibly damaging |
Het |
Tiam2 |
A |
T |
17: 3,501,120 (GRCm39) |
M920L |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,968,237 (GRCm39) |
N729S |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,511,581 (GRCm39) |
L223P |
probably damaging |
Het |
Tmem268 |
T |
C |
4: 63,484,005 (GRCm39) |
|
probably null |
Het |
Tmpo |
A |
T |
10: 90,998,818 (GRCm39) |
I323K |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,440,549 (GRCm39) |
S302G |
probably benign |
Het |
Trip11 |
C |
A |
12: 101,852,127 (GRCm39) |
E361* |
probably null |
Het |
Tspyl3 |
T |
A |
2: 153,067,076 (GRCm39) |
N54I |
possibly damaging |
Het |
Upp2 |
A |
T |
2: 58,668,021 (GRCm39) |
Y220F |
probably damaging |
Het |
Usp22 |
G |
T |
11: 61,052,290 (GRCm39) |
|
probably null |
Het |
Vezt |
ACTCCTCCT |
ACTCCT |
10: 93,809,793 (GRCm39) |
|
probably benign |
Het |
Vmn1r235 |
G |
T |
17: 21,482,562 (GRCm39) |
G296W |
probably damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,954,113 (GRCm39) |
V94A |
possibly damaging |
Het |
Zfp607a |
A |
T |
7: 27,565,073 (GRCm39) |
E80V |
probably 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 |
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 |
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'- TTCTAAGAACCCACAGGCAG -3'
(R):5'- CTGATGGTAATGTCCCTGGC -3'
Sequencing Primer
(F):5'- TTCTAAGAACCCACAGGCAGAAAGAG -3'
(R):5'- GTAATGTCCCTGGCACCCTG -3'
|
Posted On |
2015-06-20 |