Incidental Mutation 'R4947:Polr3a'
| ID |
383523 |
| 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 |
042544-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24532532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 187
(D187E)
|
| 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: D187E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: D187E
| 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
AA Change: D187E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225526
|
| Meta Mutation Damage Score |
0.0725 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.4%
|
| Validation Efficiency |
100% (88/88) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,343 (GRCm39) |
H119L |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,037 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Bcl2a1a |
G |
A |
9: 88,839,335 (GRCm39) |
E78K |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,146,829 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
A |
6: 87,880,455 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
C |
T |
2: 37,685,343 (GRCm39) |
|
probably benign |
Het |
| Cstdc6 |
T |
C |
16: 36,142,127 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,601,012 (GRCm39) |
G584C |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,723,419 (GRCm39) |
N415S |
possibly damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,028,116 (GRCm39) |
T1095S |
unknown |
Het |
| D630045J12Rik |
C |
T |
6: 38,125,478 (GRCm39) |
R1512H |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,272,518 (GRCm39) |
V1078E |
probably benign |
Het |
| Donson |
A |
T |
16: 91,479,439 (GRCm39) |
D366E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,114,201 (GRCm39) |
E1163G |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,237 (GRCm39) |
K601R |
probably benign |
Het |
| Fez1 |
A |
C |
9: 36,780,171 (GRCm39) |
I323L |
probably damaging |
Het |
| Flacc1 |
T |
A |
1: 58,715,698 (GRCm39) |
T173S |
probably benign |
Het |
| Fmnl2 |
T |
G |
2: 52,963,722 (GRCm39) |
S285A |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,884,371 (GRCm39) |
S1194P |
probably damaging |
Het |
| Gm10754 |
A |
T |
10: 97,518,010 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
A |
T |
2: 154,866,879 (GRCm39) |
T279S |
probably benign |
Het |
| Gm16332 |
G |
A |
1: 139,793,730 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21718 |
T |
A |
14: 51,553,416 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,734 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,658,377 (GRCm39) |
F371S |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,481,968 (GRCm39) |
I128V |
probably null |
Het |
| H2-Q3 |
T |
A |
17: 35,578,708 (GRCm39) |
|
noncoding transcript |
Het |
| Ibtk |
T |
C |
9: 85,592,465 (GRCm39) |
T998A |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,583,316 (GRCm39) |
S301P |
probably damaging |
Het |
| Kcnn1 |
C |
A |
8: 71,297,073 (GRCm39) |
A545S |
probably benign |
Het |
| Keap1 |
T |
G |
9: 21,148,849 (GRCm39) |
S53R |
probably benign |
Het |
| Lat |
A |
G |
7: 125,967,110 (GRCm39) |
V138A |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,078,966 (GRCm39) |
N249K |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,769,472 (GRCm39) |
I557V |
probably benign |
Het |
| Maml3 |
A |
G |
3: 51,763,960 (GRCm39) |
F335L |
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,314,420 (GRCm39) |
D265E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,282,222 (GRCm39) |
H35R |
probably benign |
Het |
| Mif4gd |
C |
A |
11: 115,500,463 (GRCm39) |
V32L |
probably benign |
Het |
| Mlana |
T |
C |
19: 29,677,551 (GRCm39) |
S18P |
probably damaging |
Het |
| Mpnd |
T |
A |
17: 56,317,268 (GRCm39) |
|
probably benign |
Het |
| Ms4a4b |
T |
C |
19: 11,432,101 (GRCm39) |
V74A |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,923,655 (GRCm39) |
F133L |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,030,330 (GRCm39) |
M150V |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,465,903 (GRCm39) |
V487A |
probably benign |
Het |
| Nos3 |
G |
A |
5: 24,582,853 (GRCm39) |
C660Y |
probably damaging |
Het |
| Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,634 (GRCm39) |
V179A |
probably damaging |
Het |
| Or1e1c |
C |
T |
11: 73,266,243 (GRCm39) |
R223* |
probably null |
Het |
| Or52n5 |
A |
G |
7: 104,587,949 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,808 (GRCm39) |
L154P |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,879,258 (GRCm39) |
K938E |
probably damaging |
Het |
| Pcgf3 |
T |
C |
5: 108,635,827 (GRCm39) |
F166L |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,015,981 (GRCm39) |
V128E |
possibly damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,573 (GRCm39) |
D135G |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,424,527 (GRCm39) |
T14A |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,399,141 (GRCm39) |
E254G |
probably damaging |
Het |
| Silc1 |
A |
T |
12: 27,210,227 (GRCm39) |
|
noncoding transcript |
Het |
| Skint11 |
T |
C |
4: 114,048,707 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,108,816 (GRCm39) |
T109A |
probably benign |
Het |
| Sntg1 |
C |
A |
1: 8,853,022 (GRCm39) |
V43L |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,090,203 (GRCm39) |
A124V |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,969,208 (GRCm39) |
D398G |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,227,629 (GRCm39) |
E1438V |
probably damaging |
Het |
| Tas2r139 |
A |
G |
6: 42,118,500 (GRCm39) |
T211A |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,029,770 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
C |
3: 89,133,738 (GRCm39) |
Y897H |
probably damaging |
Het |
| Timm50 |
G |
T |
7: 28,009,469 (GRCm39) |
|
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,844,298 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Unc93b1 |
C |
A |
19: 3,985,871 (GRCm39) |
T90K |
probably benign |
Het |
| Upk3bl |
T |
C |
5: 136,086,099 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,860 (GRCm39) |
H179Q |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,919 (GRCm39) |
F610Y |
probably damaging |
Het |
| Vmn2r80 |
T |
G |
10: 79,030,532 (GRCm39) |
L786R |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,726,083 (GRCm39) |
T323A |
probably benign |
Het |
| Zfp532 |
T |
C |
18: 65,758,137 (GRCm39) |
I690T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,744,791 (GRCm39) |
N47S |
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 |
|
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'- CAAGGATGTGTATGAGTGCATCTG -3'
(R):5'- TTAGGATTATGGGCCCCGAAG -3'
Sequencing Primer
(F):5'- ATGAGTGCATCTGTGTGCATG -3'
(R):5'- CGAAGCTGGTGTGTTCCTAGAAAATG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation