Incidental Mutation 'IGL03152:Pcgf6'
| ID |
411137 |
| 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 # |
IGL03152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47022056-47039345 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 47037344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026032]
|
| AlphaFold |
Q99NA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026032
|
| SMART Domains |
Protein: ENSMUSP00000026032
Gene: ENSMUSG00000025050
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
T |
A |
5: 16,527,566 (GRCm39) |
N540K |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,646,693 (GRCm39) |
E43G |
probably damaging |
Het |
| Car14 |
A |
C |
3: 95,806,157 (GRCm39) |
C301W |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,217,458 (GRCm39) |
V9I |
possibly damaging |
Het |
| Edar |
A |
G |
10: 58,445,817 (GRCm39) |
F249S |
possibly damaging |
Het |
| Fads2b |
A |
G |
2: 85,330,648 (GRCm39) |
S220P |
probably damaging |
Het |
| Fhip2a |
C |
A |
19: 57,367,264 (GRCm39) |
T269K |
probably damaging |
Het |
| Gm4799 |
A |
G |
10: 82,790,797 (GRCm39) |
|
noncoding transcript |
Het |
| Grk4 |
T |
C |
5: 34,902,701 (GRCm39) |
S418P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,636,598 (GRCm39) |
S774P |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,837,058 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Myef2l |
A |
T |
3: 10,153,334 (GRCm39) |
K34N |
probably benign |
Het |
| Or5al1 |
A |
T |
2: 85,990,030 (GRCm39) |
I228N |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,868,036 (GRCm39) |
R265C |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,725,625 (GRCm39) |
K2R |
possibly damaging |
Het |
| Stx5a |
T |
C |
19: 8,727,138 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,012,486 (GRCm39) |
N2560I |
probably benign |
Het |
| Tuba3a |
A |
T |
6: 125,258,300 (GRCm39) |
L230Q |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,230,001 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,960,972 (GRCm39) |
S452P |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,469 (GRCm39) |
C173R |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,814,008 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pcgf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Pcgf6
|
APN |
19 |
47,039,243 (GRCm39) |
missense |
unknown |
|
|
IGL02228:Pcgf6
|
APN |
19 |
47,036,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02366:Pcgf6
|
APN |
19 |
47,038,894 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
2016-08-02 |
Incidental Mutation