Incidental Mutation 'R6560:Pcgf3'
| ID |
522000 |
| 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 |
044684-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R6560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108609098-108654842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108621768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 35
(H35Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046975]
[ENSMUST00000112597]
[ENSMUST00000138264]
|
| AlphaFold |
Q8BTQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046975
AA Change: H35Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041790
Gene: ENSMUSG00000033623
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
17 |
55 |
2.87e-5 |
SMART |
|
Pfam:RAWUL
|
158 |
235 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112597
AA Change: H35Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108216
Gene: ENSMUSG00000033623
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
17 |
55 |
2.87e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138264
AA Change: H35Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142465
Gene: ENSMUSG00000033623
AA Change: H35Q
| 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: ENSMUST00000143973
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| 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 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,843,230 (GRCm39) |
L1235Q |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,916,290 (GRCm39) |
T174A |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,255,130 (GRCm39) |
R733H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arsk |
A |
T |
13: 76,223,105 (GRCm39) |
I164N |
probably benign |
Het |
| Bbs5 |
T |
A |
2: 69,487,300 (GRCm39) |
N194K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,723,119 (GRCm39) |
T133A |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,367 (GRCm39) |
P1010S |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,339,790 (GRCm39) |
N778K |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,412,594 (GRCm39) |
I240V |
possibly damaging |
Het |
| Crip3 |
A |
G |
17: 46,741,962 (GRCm39) |
R150G |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,085,299 (GRCm39) |
T320A |
probably benign |
Het |
| Dio2 |
G |
C |
12: 90,696,607 (GRCm39) |
S127* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,801,161 (GRCm39) |
E99G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,626,935 (GRCm39) |
S325G |
probably benign |
Het |
| Exosc4 |
A |
G |
15: 76,211,813 (GRCm39) |
I41V |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,739,720 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm3072 |
T |
A |
14: 41,345,510 (GRCm39) |
D89V |
unknown |
Het |
| Gosr2 |
T |
C |
11: 103,577,508 (GRCm39) |
H79R |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,660 (GRCm39) |
T352S |
probably damaging |
Het |
| Insig1 |
T |
A |
5: 28,276,531 (GRCm39) |
C32* |
probably null |
Het |
| Klf9 |
A |
G |
19: 23,119,314 (GRCm39) |
S66G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,623,665 (GRCm39) |
I263T |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,240,834 (GRCm39) |
G38R |
probably null |
Het |
| Negr1 |
A |
G |
3: 157,018,494 (GRCm39) |
T332A |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,787,884 (GRCm39) |
S1417P |
possibly damaging |
Het |
| Or52ab4 |
T |
C |
7: 102,987,945 (GRCm39) |
F228S |
probably benign |
Het |
| Or7e168 |
G |
A |
9: 19,720,412 (GRCm39) |
S266N |
probably benign |
Het |
| Plppr5 |
A |
G |
3: 117,465,639 (GRCm39) |
I297V |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,214,746 (GRCm39) |
Q85H |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,388,688 (GRCm39) |
M305R |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,954 (GRCm39) |
E995K |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,142,379 (GRCm39) |
R4G |
probably damaging |
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 |
|
R1192:Pcgf3
|
UTSW |
5 |
108,634,054 (GRCm39) |
missense |
probably benign |
|
|
R4947:Pcgf3
|
UTSW |
5 |
108,635,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TCTGTGGGTGGAGTAAAGGCA -3'
(R):5'- GAAACCACCCTCCAGAAGTT -3'
Sequencing Primer
(F):5'- AGAGTTCTATCTCAGCCACTTGGG -3'
(R):5'- GTTACCCACAACATCCCTAGTTATGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation