Incidental Mutation 'IGL01904:Polr3c'
ID |
179630 |
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 # |
IGL01904
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96618836-96634803 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 96623981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029741]
[ENSMUST00000154679]
|
AlphaFold |
Q9D483 |
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 |
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: 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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dnah5 |
T |
C |
15: 28,307,510 (GRCm39) |
I1746T |
probably benign |
Het |
Eml3 |
T |
C |
19: 8,914,130 (GRCm39) |
|
probably benign |
Het |
Eml6 |
C |
A |
11: 29,788,613 (GRCm39) |
E491* |
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hs3st2 |
C |
T |
7: 121,100,207 (GRCm39) |
P351L |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,933,798 (GRCm39) |
Y819N |
probably damaging |
Het |
Kifc3 |
C |
A |
8: 95,864,585 (GRCm39) |
A42S |
possibly damaging |
Het |
Mrps17 |
A |
G |
5: 129,793,865 (GRCm39) |
T20A |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
Or6b1 |
T |
C |
6: 42,815,223 (GRCm39) |
M136T |
possibly damaging |
Het |
Or7e176 |
T |
G |
9: 20,171,586 (GRCm39) |
M150R |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,611,511 (GRCm39) |
L1484P |
probably damaging |
Het |
Ros1 |
C |
A |
10: 51,954,007 (GRCm39) |
E1877D |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,896,260 (GRCm39) |
N565S |
probably damaging |
Het |
Slf2 |
T |
C |
19: 44,937,580 (GRCm39) |
|
probably null |
Het |
Speer1m |
A |
C |
5: 11,971,423 (GRCm39) |
N125T |
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,565,915 (GRCm39) |
|
probably benign |
Het |
Sult2a8 |
T |
C |
7: 14,159,382 (GRCm39) |
E79G |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,851,564 (GRCm39) |
T573A |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfand5 |
C |
T |
19: 21,257,122 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
C |
A |
3: 5,477,769 (GRCm39) |
H3461Q |
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 |
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 |
2014-05-07 |