Incidental Mutation 'IGL02955:Polr3c'
| ID |
365065 |
| 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: 0.961)
|
| Stock # |
IGL02955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96618836-96634803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96621628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 423
(Y423H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029741]
[ENSMUST00000154679]
|
| AlphaFold |
Q9D483 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029741
AA Change: Y423H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: Y423H
| 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 damaging
Transcript: ENSMUST00000154679
AA Change: Y423H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: Y423H
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
A |
11: 76,309,991 (GRCm39) |
H840L |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,273,291 (GRCm39) |
D970G |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,591 (GRCm39) |
K162R |
probably null |
Het |
| Bicd2 |
T |
C |
13: 49,531,691 (GRCm39) |
V311A |
probably benign |
Het |
| Cblif |
T |
C |
19: 11,725,027 (GRCm39) |
L6P |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,437,123 (GRCm39) |
L489P |
probably damaging |
Het |
| Cd55 |
G |
T |
1: 130,377,219 (GRCm39) |
T38K |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,817,676 (GRCm39) |
A749E |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,255,262 (GRCm39) |
T212N |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,199,097 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,439,089 (GRCm39) |
E83G |
probably damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,256 (GRCm39) |
N244S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,142,864 (GRCm39) |
T1151A |
probably benign |
Het |
| Fer |
G |
A |
17: 64,298,712 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,584 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,875,014 (GRCm39) |
L991P |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,261 (GRCm39) |
D722G |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,267,565 (GRCm39) |
I586T |
probably benign |
Het |
| Lig1 |
G |
A |
7: 13,030,273 (GRCm39) |
G417R |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,103 (GRCm39) |
I559T |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,343,300 (GRCm39) |
I1731V |
probably benign |
Het |
| Mfsd13a |
T |
G |
19: 46,356,192 (GRCm39) |
V99G |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,264,391 (GRCm39) |
H153R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,060,637 (GRCm39) |
Y724H |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 53,548,048 (GRCm39) |
N101K |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,334,807 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
T |
C |
7: 6,517,682 (GRCm39) |
T249A |
probably damaging |
Het |
| Or11g7 |
C |
T |
14: 50,691,442 (GRCm39) |
T311I |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,013 (GRCm39) |
M85L |
probably benign |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,956 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptprj |
T |
G |
2: 90,298,808 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,053,156 (GRCm39) |
I931T |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,967 (GRCm39) |
I36T |
probably damaging |
Het |
| Tagap1 |
T |
C |
17: 7,223,781 (GRCm39) |
H305R |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,508 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,682 (GRCm39) |
E105G |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,798,241 (GRCm39) |
C2055F |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,963 (GRCm39) |
N277S |
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 |
|
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 |
2015-12-18 |
Incidental Mutation