Incidental Mutation 'R4690:Polr3a'
| ID |
354869 |
| 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 |
041941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4690 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24514349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 817
(S817T)
|
| 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: S817T
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: S817T
| 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
|
| Meta Mutation Damage Score |
0.0873 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
98% (89/91) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,039,706 (GRCm39) |
F436L |
probably damaging |
Het |
| Adam28 |
G |
T |
14: 68,879,497 (GRCm39) |
Q184K |
probably benign |
Het |
| Adh6a |
A |
G |
3: 138,031,932 (GRCm39) |
T275A |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,927,244 (GRCm39) |
D1082G |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,400,150 (GRCm39) |
V263E |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,372,420 (GRCm39) |
|
probably null |
Het |
| Bspry |
G |
A |
4: 62,404,762 (GRCm39) |
R186Q |
probably damaging |
Het |
| Ccdc188 |
T |
A |
16: 18,036,159 (GRCm39) |
H111Q |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,911,615 (GRCm39) |
F209S |
possibly damaging |
Het |
| Cfap43 |
C |
A |
19: 47,736,298 (GRCm39) |
V1398L |
probably benign |
Het |
| Cln3 |
A |
T |
7: 126,174,565 (GRCm39) |
I286N |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,263,787 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
A |
G |
6: 113,279,016 (GRCm39) |
E470G |
probably damaging |
Het |
| Cul5 |
A |
T |
9: 53,534,171 (GRCm39) |
W654R |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,634 (GRCm39) |
K51* |
probably null |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dot1l |
C |
A |
10: 80,622,016 (GRCm39) |
S556* |
probably null |
Het |
| Eif3d |
A |
T |
15: 77,851,516 (GRCm39) |
M98K |
probably benign |
Het |
| Fiz1 |
A |
G |
7: 5,012,167 (GRCm39) |
V117A |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,257,636 (GRCm39) |
V722A |
probably benign |
Het |
| Ftdc1 |
G |
A |
16: 58,434,333 (GRCm39) |
T128I |
probably benign |
Het |
| Gm3095 |
G |
T |
14: 3,964,471 (GRCm38) |
R63I |
probably benign |
Het |
| Gm7133 |
A |
T |
1: 97,197,224 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxb8 |
A |
T |
11: 96,175,286 (GRCm39) |
D241V |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,230,959 (GRCm39) |
Q399R |
unknown |
Het |
| Itpk1 |
A |
T |
12: 102,572,434 (GRCm39) |
V93D |
probably damaging |
Het |
| Kars1 |
C |
T |
8: 112,729,216 (GRCm39) |
A164T |
probably benign |
Het |
| Kcnq4 |
A |
T |
4: 120,574,208 (GRCm39) |
I150N |
probably damaging |
Het |
| Kcnrg |
A |
T |
14: 61,849,176 (GRCm39) |
L212F |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,216,759 (GRCm39) |
D521E |
probably benign |
Het |
| Klf11 |
C |
T |
12: 24,705,071 (GRCm39) |
T158M |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,776,034 (GRCm39) |
I175V |
probably benign |
Het |
| Lsm1 |
A |
G |
8: 26,283,708 (GRCm39) |
N40S |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,567,576 (GRCm39) |
E1715G |
unknown |
Het |
| Mecom |
C |
A |
3: 30,292,459 (GRCm39) |
A4S |
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
| Mug2 |
A |
T |
6: 122,013,255 (GRCm39) |
I341L |
probably benign |
Het |
| Mxra7 |
A |
T |
11: 116,707,078 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
C |
9: 75,061,105 (GRCm39) |
L537P |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,855,533 (GRCm39) |
N1241Y |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,582,497 (GRCm39) |
R531G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,134,087 (GRCm39) |
M3299L |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,453,130 (GRCm39) |
Y76N |
probably benign |
Het |
| Nmral1 |
T |
C |
16: 4,534,205 (GRCm39) |
T79A |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,155,300 (GRCm39) |
Q23* |
probably null |
Het |
| Nrxn1 |
A |
T |
17: 90,344,509 (GRCm39) |
V438D |
probably damaging |
Het |
| Or5b109 |
A |
C |
19: 13,212,132 (GRCm39) |
N173H |
possibly damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,242 (GRCm39) |
C139S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,836 (GRCm39) |
T182A |
probably benign |
Het |
| Pank2 |
T |
C |
2: 131,115,945 (GRCm39) |
I121T |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,528 (GRCm39) |
T36S |
probably benign |
Het |
| Pfdn1 |
A |
T |
18: 36,584,133 (GRCm39) |
M67K |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,058,456 (GRCm39) |
E3849G |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,012,707 (GRCm39) |
D401E |
probably damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,798,992 (GRCm39) |
D891V |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 33,001,500 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,410,749 (GRCm39) |
|
probably null |
Het |
| Rab13 |
G |
C |
3: 90,128,330 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
C |
T |
10: 80,382,255 (GRCm39) |
A751T |
probably benign |
Het |
| Rfx1 |
T |
C |
8: 84,809,374 (GRCm39) |
V233A |
possibly damaging |
Het |
| Rnf149 |
C |
T |
1: 39,616,295 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,097,086 (GRCm39) |
D122G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,698,639 (GRCm39) |
F70S |
probably damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,649,526 (GRCm39) |
S44P |
possibly damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,549 (GRCm39) |
T471A |
possibly damaging |
Het |
| Slc6a1 |
A |
G |
6: 114,279,792 (GRCm39) |
Y152C |
probably damaging |
Het |
| Spata31f3 |
T |
A |
4: 42,873,032 (GRCm39) |
|
probably null |
Het |
| Spata6 |
A |
T |
4: 111,632,023 (GRCm39) |
T145S |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,137,186 (GRCm39) |
G956D |
probably damaging |
Het |
| Ssh2 |
A |
T |
11: 77,346,031 (GRCm39) |
I1339F |
possibly damaging |
Het |
| Tardbp |
A |
T |
4: 148,697,078 (GRCm39) |
*99K |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,196,037 (GRCm39) |
Y336C |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,381,419 (GRCm39) |
|
probably benign |
Het |
| Tmem178b |
T |
G |
6: 40,222,547 (GRCm39) |
D87E |
probably benign |
Het |
| Tmem184a |
A |
C |
5: 139,791,377 (GRCm39) |
S380A |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,411,682 (GRCm39) |
K84R |
possibly damaging |
Het |
| Tpgs1 |
A |
G |
10: 79,511,235 (GRCm39) |
T126A |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,447,834 (GRCm39) |
E437G |
possibly damaging |
Het |
| Trpc4ap |
C |
T |
2: 155,477,053 (GRCm39) |
C755Y |
probably damaging |
Het |
| Tsfm |
A |
G |
10: 126,866,547 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,570,811 (GRCm39) |
|
probably benign |
Het |
| Vmn1r23 |
A |
T |
6: 57,903,010 (GRCm39) |
M256K |
probably benign |
Het |
| Zdhhc8 |
T |
C |
16: 18,044,605 (GRCm39) |
D305G |
probably damaging |
Het |
| Zfp326 |
G |
A |
5: 106,054,942 (GRCm39) |
R282H |
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 |
|
|
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'- CCATTGTGATGGTGGTGAAAC -3'
(R):5'- TGGCTTCACCTACATTGCTG -3'
Sequencing Primer
(F):5'- CCAAACAAGCACTTCAAATGTTTG -3'
(R):5'- CTACATTGCTGTAGCTGTTGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation