Incidental Mutation 'R6408:Polr3a'
| ID |
514550 |
| 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 |
044553-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 24536939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000112384]
[ENSMUST00000169826]
[ENSMUST00000223718]
[ENSMUST00000223999]
[ENSMUST00000224568]
[ENSMUST00000225023]
|
| AlphaFold |
B2RXC6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026322
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
| 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: ENSMUST00000112384
|
| SMART Domains |
Protein: ENSMUSP00000108003
Gene: ENSMUSG00000025290
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S24e
|
23 |
108 |
4.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169826
|
| SMART Domains |
Protein: ENSMUSP00000125977
Gene: ENSMUSG00000025290
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S24e
|
24 |
102 |
1.9e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225023
|
| Meta Mutation Damage Score |
0.9492 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.2%
|
| Validation Efficiency |
94% (45/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,691,858 (GRCm39) |
S50P |
probably damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,949,307 (GRCm39) |
V1068A |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,470,412 (GRCm39) |
|
probably null |
Het |
| Amer2 |
T |
C |
14: 60,617,674 (GRCm39) |
I497T |
probably damaging |
Het |
| Azi2 |
A |
T |
9: 117,890,550 (GRCm39) |
R51* |
probably null |
Het |
| Brdt |
A |
G |
5: 107,533,358 (GRCm39) |
D946G |
probably damaging |
Het |
| Bzw2 |
C |
T |
12: 36,157,524 (GRCm39) |
V314I |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,672,954 (GRCm39) |
Y116* |
probably null |
Het |
| Clca4b |
A |
G |
3: 144,625,036 (GRCm39) |
I485T |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,316,053 (GRCm39) |
T1130S |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,299,014 (GRCm39) |
V3220M |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,770,173 (GRCm39) |
L514Q |
probably damaging |
Het |
| D7Ertd443e |
G |
T |
7: 133,951,440 (GRCm39) |
Q31K |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,831,355 (GRCm39) |
E8G |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,391,819 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,066,430 (GRCm39) |
M988V |
possibly damaging |
Het |
| Dlx4 |
A |
G |
11: 95,036,078 (GRCm39) |
V77A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,522,191 (GRCm39) |
|
probably null |
Het |
| Drc1 |
A |
G |
5: 30,513,632 (GRCm39) |
E396G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gbp2b |
T |
C |
3: 142,323,899 (GRCm39) |
L568S |
probably benign |
Het |
| Gjb5 |
A |
T |
4: 127,249,940 (GRCm39) |
F68Y |
probably benign |
Het |
| Hs6st3 |
C |
A |
14: 119,376,046 (GRCm39) |
P74T |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,133 (GRCm39) |
L1743P |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,846,307 (GRCm39) |
C48S |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,654 (GRCm39) |
H245R |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,798,184 (GRCm39) |
E93G |
probably benign |
Het |
| Mettl6 |
T |
C |
14: 31,201,683 (GRCm39) |
E253G |
probably damaging |
Het |
| Nmu |
A |
T |
5: 76,491,818 (GRCm39) |
F106Y |
probably damaging |
Het |
| Pcsk7 |
T |
C |
9: 45,820,994 (GRCm39) |
I142T |
probably benign |
Het |
| Psmb9 |
G |
T |
17: 34,404,707 (GRCm39) |
A19E |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,456 (GRCm39) |
M454T |
probably benign |
Het |
| Raet1e |
A |
G |
10: 22,056,645 (GRCm39) |
T74A |
probably benign |
Het |
| Ralb |
A |
C |
1: 119,405,839 (GRCm39) |
Y43* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,730,695 (GRCm39) |
E1947* |
probably null |
Het |
| Rnf26rt |
A |
G |
6: 76,473,441 (GRCm39) |
C392R |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,768,934 (GRCm39) |
Y500H |
probably benign |
Het |
| Shroom1 |
A |
C |
11: 53,354,214 (GRCm39) |
T45P |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,142,328 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,356,706 (GRCm39) |
R170G |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,164 (GRCm39) |
V888A |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,441,980 (GRCm39) |
D204V |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,666,643 (GRCm39) |
I388M |
probably benign |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,624 (GRCm39) |
A39D |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,229 (GRCm39) |
E180* |
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,563 (GRCm39) |
D63G |
probably benign |
Het |
| Zfp282 |
G |
A |
6: 47,857,319 (GRCm39) |
R184Q |
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 |
|
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'- TGACACTGTTCCGTCCATTG -3'
(R):5'- CTCTCTTCATAAAGTCCGGCGG -3'
Sequencing Primer
(F):5'- ATTGCACTTTCCCCGCTATAC -3'
(R):5'- TAAAGTCCGGCGGCGGAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation