Incidental Mutation 'IGL02228:Pcgf6'
| ID |
285371 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcgf6
|
| Ensembl Gene |
ENSMUSG00000025050 |
| Gene Name |
polycomb group ring finger 6 |
| Synonyms |
Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR, 4933407A11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47022056-47039345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 47036421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 216
(F216C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026032]
|
| AlphaFold |
Q99NA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026032
AA Change: F216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050
AA Change: F216C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
52 |
N/A |
INTRINSIC |
|
coiled coil region
|
71 |
113 |
N/A |
INTRINSIC |
|
RING
|
137 |
175 |
3.58e-6 |
SMART |
|
Pfam:RAWUL
|
263 |
333 |
2.8e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,063,738 (GRCm39) |
V282A |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,131,089 (GRCm39) |
D169G |
probably damaging |
Het |
| Adam8 |
C |
T |
7: 139,568,719 (GRCm39) |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,829,536 (GRCm39) |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 31,994,114 (GRCm39) |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,296,830 (GRCm39) |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,082,452 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,313 (GRCm39) |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 139,987,641 (GRCm39) |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 105,945,277 (GRCm39) |
D946N |
probably benign |
Het |
| Crat |
T |
C |
2: 30,303,194 (GRCm39) |
H31R |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,176,790 (GRCm39) |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,863,739 (GRCm39) |
V363A |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 33,997,424 (GRCm39) |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,361,973 (GRCm39) |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,730 (GRCm39) |
L47F |
probably benign |
Het |
| Mier1 |
T |
A |
4: 102,988,259 (GRCm39) |
M44K |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,789,615 (GRCm39) |
Q439K |
probably benign |
Het |
| Or6aa1 |
A |
C |
7: 86,044,286 (GRCm39) |
I140S |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,694,055 (GRCm39) |
Y276C |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,231 (GRCm39) |
K183R |
probably damaging |
Het |
| Rbbp4 |
A |
T |
4: 129,211,543 (GRCm39) |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,109,729 (GRCm39) |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,060,355 (GRCm39) |
V1019E |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 103,974,859 (GRCm39) |
R98Q |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,667 (GRCm39) |
G324V |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,678,697 (GRCm39) |
L209P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,513 (GRCm39) |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,311,448 (GRCm39) |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,938,144 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 (GRCm39) |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,647,587 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,210,416 (GRCm39) |
I1801N |
probably damaging |
Het |
|
| Other mutations in Pcgf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Pcgf6
|
APN |
19 |
47,039,243 (GRCm39) |
missense |
unknown |
|
|
IGL02366:Pcgf6
|
APN |
19 |
47,038,894 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03152:Pcgf6
|
APN |
19 |
47,037,344 (GRCm39) |
splice site |
probably benign |
|
|
R0220:Pcgf6
|
UTSW |
19 |
47,028,529 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1651:Pcgf6
|
UTSW |
19 |
47,037,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Pcgf6
|
UTSW |
19 |
47,028,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Pcgf6
|
UTSW |
19 |
47,038,957 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3157:Pcgf6
|
UTSW |
19 |
47,028,475 (GRCm39) |
splice site |
probably benign |
|
|
R4745:Pcgf6
|
UTSW |
19 |
47,036,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5620:Pcgf6
|
UTSW |
19 |
47,036,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Pcgf6
|
UTSW |
19 |
47,037,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Pcgf6
|
UTSW |
19 |
47,031,226 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7100:Pcgf6
|
UTSW |
19 |
47,039,153 (GRCm39) |
missense |
unknown |
|
|
R8079:Pcgf6
|
UTSW |
19 |
47,034,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Pcgf6
|
UTSW |
19 |
47,034,277 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8745:Pcgf6
|
UTSW |
19 |
47,039,159 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9079:Pcgf6
|
UTSW |
19 |
47,039,053 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9430:Pcgf6
|
UTSW |
19 |
47,039,219 (GRCm39) |
missense |
unknown |
|
|
R9619:Pcgf6
|
UTSW |
19 |
47,037,261 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9753:Pcgf6
|
UTSW |
19 |
47,023,073 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation