Incidental Mutation 'R7307:Polr3a'
| ID |
567339 |
| 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 |
045366-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7307 (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 G
at 24510055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 960
(C960R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
| AlphaFold |
B2RXC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026322
AA Change: C960R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: C960R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,259 (GRCm39) |
P155L |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,217,899 (GRCm39) |
L285F |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,816,949 (GRCm39) |
Y393N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,865,016 (GRCm39) |
Q993R |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| B4galnt3 |
T |
C |
6: 120,192,392 (GRCm39) |
D448G |
probably benign |
Het |
| Capn1 |
C |
G |
19: 6,043,938 (GRCm39) |
E564D |
possibly damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,349,384 (GRCm39) |
S474P |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,140,626 (GRCm39) |
L1289* |
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,193,719 (GRCm39) |
N920K |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,345,143 (GRCm39) |
S2091N |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,273,960 (GRCm39) |
I581N |
probably damaging |
Het |
| Dnm2 |
A |
T |
9: 21,396,983 (GRCm39) |
N487Y |
probably damaging |
Het |
| Enc1 |
A |
C |
13: 97,381,601 (GRCm39) |
N37T |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,976 (GRCm39) |
I932S |
probably benign |
Het |
| Frk |
T |
A |
10: 34,467,934 (GRCm39) |
M316K |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,109,349 (GRCm39) |
R25C |
unknown |
Het |
| Gpat2 |
T |
A |
2: 127,276,810 (GRCm39) |
D671E |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,229,672 (GRCm39) |
E828K |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,538,142 (GRCm39) |
Y1052H |
probably damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,314,833 (GRCm39) |
S69N |
probably damaging |
Het |
| Hid1 |
A |
C |
11: 115,239,308 (GRCm39) |
I785S |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,233,093 (GRCm39) |
I214T |
probably damaging |
Het |
| Hsd3b5 |
G |
T |
3: 98,527,085 (GRCm39) |
F120L |
probably damaging |
Het |
| Kif16b |
C |
T |
2: 142,554,851 (GRCm39) |
R649Q |
probably benign |
Het |
| Kif17 |
A |
T |
4: 137,989,954 (GRCm39) |
E47D |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,279,896 (GRCm39) |
H1368R |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,747,299 (GRCm39) |
S3342T |
unknown |
Het |
| Krt82 |
A |
G |
15: 101,451,342 (GRCm39) |
C356R |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,156 (GRCm39) |
K407E |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,584,640 (GRCm39) |
H325Q |
possibly damaging |
Het |
| Mccc2 |
T |
G |
13: 100,125,108 (GRCm39) |
D187A |
possibly damaging |
Het |
| Mgll |
T |
A |
6: 88,791,103 (GRCm39) |
|
probably null |
Het |
| Mindy2 |
T |
G |
9: 70,518,241 (GRCm39) |
E449A |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
| Nlrp4e |
A |
G |
7: 23,020,953 (GRCm39) |
E480G |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
| Or13a26 |
G |
A |
7: 140,285,060 (GRCm39) |
V299I |
probably benign |
Het |
| Or1j4 |
G |
A |
2: 36,740,137 (GRCm39) |
M26I |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,105 (GRCm39) |
|
probably benign |
Het |
| Or52a20 |
G |
T |
7: 103,366,173 (GRCm39) |
R124L |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,531 (GRCm39) |
H484L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,605,344 (GRCm39) |
T604A |
possibly damaging |
Het |
| Pitpnm3 |
G |
T |
11: 71,961,790 (GRCm39) |
A275D |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,638,118 (GRCm39) |
|
probably null |
Het |
| Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
| Pramel11 |
A |
C |
4: 143,623,345 (GRCm39) |
Y276* |
probably null |
Het |
| Pramel51 |
A |
C |
12: 88,148,519 (GRCm39) |
C32W |
probably damaging |
Het |
| Psmc4 |
A |
G |
7: 27,742,085 (GRCm39) |
V303A |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,731,645 (GRCm39) |
N151S |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,004 (GRCm39) |
Y1295* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,324,283 (GRCm39) |
K881E |
possibly damaging |
Het |
| Rcan2 |
T |
A |
17: 44,331,993 (GRCm39) |
Y183* |
probably null |
Het |
| Rnd1 |
T |
C |
15: 98,568,680 (GRCm39) |
E166G |
probably damaging |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,953 (GRCm39) |
C282S |
probably damaging |
Het |
| S100b |
G |
A |
10: 76,092,926 (GRCm39) |
G20R |
probably benign |
Het |
| Sae1 |
G |
T |
7: 16,102,469 (GRCm39) |
Y168* |
probably null |
Het |
| Samd9l |
C |
A |
6: 3,372,600 (GRCm39) |
G1554* |
probably null |
Het |
| Samhd1 |
T |
C |
2: 156,976,940 (GRCm39) |
S55G |
probably benign |
Het |
| Sgsm1 |
T |
C |
5: 113,421,512 (GRCm39) |
D525G |
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,710,986 (GRCm39) |
M512K |
probably damaging |
Het |
| Slc9b2 |
T |
A |
3: 135,024,151 (GRCm39) |
N67K |
probably benign |
Het |
| Smarca4 |
T |
A |
9: 21,550,096 (GRCm39) |
I402N |
probably damaging |
Het |
| St7l |
T |
C |
3: 104,796,669 (GRCm39) |
F261L |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,721,553 (GRCm39) |
V1140D |
probably damaging |
Het |
| Syt6 |
T |
A |
3: 103,494,788 (GRCm39) |
I251N |
probably damaging |
Het |
| Taok2 |
T |
C |
7: 126,465,990 (GRCm39) |
E916G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,289,288 (GRCm39) |
S426P |
probably damaging |
Het |
| Thra |
T |
C |
11: 98,655,134 (GRCm39) |
I338T |
probably damaging |
Het |
| Trub1 |
A |
T |
19: 57,461,135 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,691 (GRCm39) |
F2574L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,981 (GRCm39) |
D1091E |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,301,682 (GRCm39) |
Y100H |
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 |
|
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 |
|
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'- GATTCCTTTTCCAACACAGAGTC -3'
(R):5'- CCTCAGCAGGCACATGTAAC -3'
Sequencing Primer
(F):5'- TCCAACACAGAGTCACTTGTGTG -3'
(R):5'- GCTCAGGCAGTGTATCCATGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation