Incidental Mutation 'R1192:Pcgf3'
| ID |
100874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcgf3
|
| Ensembl Gene |
ENSMUSG00000033623 |
| Gene Name |
polycomb group ring finger 3 |
| Synonyms |
DONG1, D630042K08Rik, Rnf3, 2310035N15Rik, RNF3A |
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108609098-108654842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108634054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046975]
[ENSMUST00000112597]
[ENSMUST00000138264]
|
| AlphaFold |
Q8BTQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046975
AA Change: V104A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041790
Gene: ENSMUSG00000033623
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
17 |
55 |
2.87e-5 |
SMART |
|
Pfam:RAWUL
|
158 |
235 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112597
AA Change: V104A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108216
Gene: ENSMUSG00000033623
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
17 |
55 |
2.87e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138264
|
| SMART Domains |
Protein: ENSMUSP00000142465
Gene: ENSMUSG00000033623
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CKL|A
|
3 |
37 |
7e-9 |
PDB |
|
SCOP:d1jm7b_
|
5 |
37 |
4e-3 |
SMART |
|
Blast:RING
|
17 |
37 |
1e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151897
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| 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 C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit limb defects and spleen agenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Pcgf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Pcgf3
|
APN |
5 |
108,634,045 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0501:Pcgf3
|
UTSW |
5 |
108,622,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Pcgf3
|
UTSW |
5 |
108,635,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6560:Pcgf3
|
UTSW |
5 |
108,621,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Pcgf3
|
UTSW |
5 |
108,634,102 (GRCm39) |
missense |
probably benign |
|
|
R8152:Pcgf3
|
UTSW |
5 |
108,635,723 (GRCm39) |
missense |
probably benign |
|
|
R8398:Pcgf3
|
UTSW |
5 |
108,647,509 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8708:Pcgf3
|
UTSW |
5 |
108,634,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8755:Pcgf3
|
UTSW |
5 |
108,634,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9697:Pcgf3
|
UTSW |
5 |
108,621,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGAGCCTGTCTTGTTGCACC -3'
(R):5'- GGTCCATTAACCAGGGCTGATGAAG -3'
Sequencing Primer
(F):5'- GGTCATTAAGGTTCCCATCCTG -3'
(R):5'- CTGATGAAGAACCTTTTCAGCAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation