Incidental Mutation 'IGL02095:Polr3a'
ID |
279558 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Polr3a
|
Ensembl Gene |
ENSMUSG00000025280 |
Gene Name |
polymerase (RNA) III (DNA directed) polypeptide A |
Synonyms |
RPC155, 9330175N20Rik, RPC1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02095
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24504678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1130
(V1130A)
|
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: V1130A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026322 Gene: ENSMUSG00000025280 AA Change: V1130A
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |