Incidental Mutation 'R6580:Polr3c'
| ID |
526372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr3c
|
| Ensembl Gene |
ENSMUSG00000028099 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide C |
| Synonyms |
4933407E01Rik, RPC62, RPC3 |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96618836-96634803 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 96634659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029740]
[ENSMUST00000029741]
[ENSMUST00000125183]
[ENSMUST00000141377]
[ENSMUST00000199051]
[ENSMUST00000154679]
|
| AlphaFold |
Q9D483 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029740
|
| SMART Domains |
Protein: ENSMUSP00000029740
Gene: ENSMUSG00000028098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
RING
|
229 |
269 |
1.14e-8 |
SMART |
|
| Predicted Effect |
probably null
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 null
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 null
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: ENSMUST00000199051
|
| SMART Domains |
Protein: ENSMUSP00000143321
Gene: ENSMUSG00000028098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:zf-RING_3
|
18 |
49 |
4.5e-9 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199974
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2018-06-25 |
Incidental Mutation