Incidental Mutation 'IGL03129:Polr3c'
| ID |
410256 |
| 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 # |
IGL03129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96618836-96634803 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 96626770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029741]
[ENSMUST00000125183]
[ENSMUST00000141377]
[ENSMUST00000154679]
|
| AlphaFold |
Q9D483 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029741
|
| SMART Domains |
Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
| 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 |
noncoding transcript
Transcript: ENSMUST00000083735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125183
|
| SMART Domains |
Protein: ENSMUSP00000123513
Gene: ENSMUSG00000028099
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_9
|
7 |
68 |
4.6e-29 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000137009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141377
|
| SMART Domains |
Protein: ENSMUSP00000115300
Gene: ENSMUSG00000028099
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HTH_9
|
7 |
68 |
3.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154679
|
| SMART Domains |
Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,238 (GRCm39) |
V403A |
probably damaging |
Het |
| Adpgk |
T |
C |
9: 59,221,088 (GRCm39) |
L298P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,089 (GRCm39) |
D1501V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,749,584 (GRCm39) |
Y417H |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,011,521 (GRCm39) |
F2511L |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,762,446 (GRCm39) |
M602V |
possibly damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,346 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
C |
18: 9,214,270 (GRCm39) |
S451P |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 58,880,750 (GRCm39) |
D134E |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 64,040,888 (GRCm39) |
S277P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,716 (GRCm39) |
V91A |
possibly damaging |
Het |
| Lrp1b |
G |
A |
2: 41,202,478 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,696 (GRCm39) |
Y1015F |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,729,994 (GRCm39) |
C2779S |
possibly damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,118 (GRCm39) |
F454Y |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,684 (GRCm39) |
L213Q |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,087 (GRCm39) |
Y58F |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,043 (GRCm39) |
M486V |
probably benign |
Het |
| Plcg1 |
A |
C |
2: 160,616,446 (GRCm39) |
|
probably null |
Het |
| Polr1b |
G |
A |
2: 128,957,627 (GRCm39) |
V561I |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,681 (GRCm39) |
K523* |
probably null |
Het |
| Prss3l |
T |
C |
6: 41,420,432 (GRCm39) |
N98S |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,476,995 (GRCm39) |
|
probably benign |
Het |
| Sp9 |
A |
G |
2: 73,103,865 (GRCm39) |
T140A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,631 (GRCm39) |
R471G |
probably damaging |
Het |
|
| Other mutations in Polr3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Polr3c
|
APN |
3 |
96,620,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation