Incidental Mutation 'IGL01734:Polr3c'
ID |
105598 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Polr3c
|
Ensembl Gene |
ENSMUSG00000028099 |
Gene Name |
polymerase (RNA) III (DNA directed) polypeptide C |
Synonyms |
4933407E01Rik, RPC62, RPC3 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
IGL01734
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96618836-96634803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96620836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 494
(E494G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029741]
[ENSMUST00000029742]
[ENSMUST00000154679]
[ENSMUST00000171249]
[ENSMUST00000200387]
|
AlphaFold |
Q9D483 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029741
AA Change: E494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029741 Gene: ENSMUSG00000028099 AA Change: E494G
Domain | Start | End | E-Value | Type |
Pfam:HTH_9
|
7 |
68 |
9.4e-26 |
PFAM |
Pfam:RNA_pol_Rpc82
|
146 |
344 |
7.6e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029742
|
SMART Domains |
Protein: ENSMUSP00000029742 Gene: ENSMUSG00000028100
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
Pfam:NUDIX
|
92 |
252 |
2.2e-9 |
PFAM |
low complexity region
|
273 |
288 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128918
|
SMART Domains |
Protein: ENSMUSP00000119236 Gene: ENSMUSG00000028099
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_Rpc82
|
20 |
180 |
5.9e-32 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154679
AA Change: E494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122435 Gene: ENSMUSG00000028099 AA Change: E494G
Domain | Start | End | E-Value | Type |
Pfam:HTH_9
|
7 |
68 |
1.6e-26 |
PFAM |
Pfam:RNA_pol_Rpc82
|
146 |
344 |
7.6e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171249
|
SMART Domains |
Protein: ENSMUSP00000129851 Gene: ENSMUSG00000028100
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
Pfam:NUDIX
|
92 |
235 |
1.2e-18 |
PFAM |
low complexity region
|
256 |
271 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200387
|
SMART Domains |
Protein: ENSMUSP00000142879 Gene: ENSMUSG00000028100
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:NUDIX
|
79 |
125 |
4.2e-6 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
Brd8 |
A |
T |
18: 34,747,858 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
Chsy1 |
T |
C |
7: 65,821,058 (GRCm39) |
I431T |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,204,980 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
Jmy |
A |
C |
13: 93,596,159 (GRCm39) |
L490R |
probably damaging |
Het |
Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
Kmo |
A |
T |
1: 175,482,668 (GRCm39) |
M331L |
probably benign |
Het |
Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
Slf2 |
T |
C |
19: 44,961,706 (GRCm39) |
|
probably null |
Het |
Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,831,563 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Polr3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01904:Polr3c
|
APN |
3 |
96,623,981 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01964:Polr3c
|
APN |
3 |
96,619,291 (GRCm39) |
unclassified |
probably benign |
|
IGL02640:Polr3c
|
APN |
3 |
96,624,002 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02955:Polr3c
|
APN |
3 |
96,621,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Polr3c
|
APN |
3 |
96,626,770 (GRCm39) |
splice site |
probably benign |
|
IGL03263:Polr3c
|
APN |
3 |
96,621,567 (GRCm39) |
splice site |
probably benign |
|
R0503:Polr3c
|
UTSW |
3 |
96,620,952 (GRCm39) |
splice site |
probably null |
|
R0800:Polr3c
|
UTSW |
3 |
96,626,627 (GRCm39) |
missense |
probably damaging |
0.99 |
R0881:Polr3c
|
UTSW |
3 |
96,631,163 (GRCm39) |
missense |
probably damaging |
0.99 |
R1763:Polr3c
|
UTSW |
3 |
96,620,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Polr3c
|
UTSW |
3 |
96,626,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Polr3c
|
UTSW |
3 |
96,626,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Polr3c
|
UTSW |
3 |
96,621,689 (GRCm39) |
splice site |
probably null |
|
R3771:Polr3c
|
UTSW |
3 |
96,633,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R4116:Polr3c
|
UTSW |
3 |
96,622,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R4614:Polr3c
|
UTSW |
3 |
96,623,787 (GRCm39) |
missense |
probably benign |
0.00 |
R4732:Polr3c
|
UTSW |
3 |
96,630,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Polr3c
|
UTSW |
3 |
96,630,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Polr3c
|
UTSW |
3 |
96,619,373 (GRCm39) |
missense |
probably damaging |
0.98 |
R5058:Polr3c
|
UTSW |
3 |
96,630,833 (GRCm39) |
missense |
probably benign |
0.01 |
R5756:Polr3c
|
UTSW |
3 |
96,621,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R6005:Polr3c
|
UTSW |
3 |
96,626,784 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6009:Polr3c
|
UTSW |
3 |
96,620,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R6580:Polr3c
|
UTSW |
3 |
96,634,659 (GRCm39) |
splice site |
probably null |
|
R7003:Polr3c
|
UTSW |
3 |
96,630,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7475:Polr3c
|
UTSW |
3 |
96,622,501 (GRCm39) |
missense |
probably benign |
0.11 |
R8065:Polr3c
|
UTSW |
3 |
96,622,968 (GRCm39) |
missense |
probably null |
0.80 |
R8067:Polr3c
|
UTSW |
3 |
96,622,968 (GRCm39) |
missense |
probably null |
0.80 |
R8478:Polr3c
|
UTSW |
3 |
96,624,066 (GRCm39) |
splice site |
probably benign |
|
R8729:Polr3c
|
UTSW |
3 |
96,634,796 (GRCm39) |
unclassified |
probably benign |
|
R8865:Polr3c
|
UTSW |
3 |
96,622,517 (GRCm39) |
unclassified |
probably benign |
|
R9532:Polr3c
|
UTSW |
3 |
96,629,866 (GRCm39) |
missense |
probably null |
|
|
Posted On |
2014-01-21 |