Incidental Mutation 'R4283:Pcgf1'
| ID |
321946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcgf1
|
| Ensembl Gene |
ENSMUSG00000069678 |
| Gene Name |
polycomb group ring finger 1 |
| Synonyms |
2010002K04Rik, Nspc1 |
| MMRRC Submission |
041651-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4283 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83054850-83057836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83056714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 90
(L90Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092614]
[ENSMUST00000165164]
[ENSMUST00000176027]
[ENSMUST00000176089]
[ENSMUST00000176100]
[ENSMUST00000177177]
|
| AlphaFold |
Q8R023 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092614
AA Change: L161Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090277
Gene: ENSMUSG00000069678
AA Change: L161Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
35 |
73 |
6.58e-5 |
SMART |
|
PDB:4HPM|D
|
155 |
243 |
9e-45 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165164
AA Change: L173Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130614
Gene: ENSMUSG00000069678
AA Change: L173Q
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
47 |
85 |
6.58e-5 |
SMART |
|
Pfam:RAWUL
|
174 |
253 |
9.7e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176027
AA Change: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135664
Gene: ENSMUSG00000069678
AA Change: L90Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CKL|A
|
1 |
46 |
2e-13 |
PDB |
|
PDB:4HPM|D
|
84 |
106 |
1e-5 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176089
|
| SMART Domains |
Protein: ENSMUSP00000135268
Gene: ENSMUSG00000069678
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CKL|A
|
1 |
32 |
5e-9 |
PDB |
|
PDB:4HPM|D
|
33 |
104 |
3e-27 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176100
|
| SMART Domains |
Protein: ENSMUSP00000135882
Gene: ENSMUSG00000069678
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CKL|A
|
19 |
52 |
3e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176372
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177177
AA Change: L90Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135291
Gene: ENSMUSG00000069678
AA Change: L90Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CKL|A
|
1 |
46 |
2e-12 |
PDB |
|
PDB:4HPM|D
|
84 |
172 |
7e-46 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204211
|
| Meta Mutation Damage Score |
0.8908 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,087 (GRCm39) |
T229A |
probably benign |
Het |
| Adgrg5 |
T |
G |
8: 95,664,326 (GRCm39) |
V312G |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,937,099 (GRCm39) |
S327A |
probably benign |
Het |
| Card9 |
A |
G |
2: 26,247,309 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cga |
T |
C |
4: 34,905,264 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
T |
6: 87,885,527 (GRCm39) |
T723M |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,543 (GRCm39) |
|
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Ghr |
C |
A |
15: 3,362,930 (GRCm39) |
V181L |
possibly damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,916 (GRCm39) |
F112L |
unknown |
Het |
| Gm17541 |
A |
G |
12: 4,739,656 (GRCm39) |
|
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,826 (GRCm39) |
L402P |
possibly damaging |
Het |
| Hsd17b12 |
G |
C |
2: 93,863,931 (GRCm39) |
R304G |
unknown |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Ncaph |
A |
G |
2: 126,963,005 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,795,336 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
C |
A |
10: 80,165,287 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,699,734 (GRCm39) |
E60G |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,294,824 (GRCm39) |
Y177C |
probably damaging |
Het |
| Tas2r104 |
C |
T |
6: 131,662,374 (GRCm39) |
A112T |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,378,007 (GRCm39) |
|
probably null |
Het |
| Tfeb |
A |
G |
17: 48,100,699 (GRCm39) |
E305G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,369 (GRCm39) |
N411S |
unknown |
Het |
| Vmn2r52 |
C |
T |
7: 9,904,565 (GRCm39) |
G425R |
possibly damaging |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
| Other mutations in Pcgf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Pcgf1
|
APN |
6 |
83,057,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Pcgf1
|
APN |
6 |
83,055,398 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01726:Pcgf1
|
APN |
6 |
83,055,867 (GRCm39) |
splice site |
probably null |
|
|
IGL03394:Pcgf1
|
APN |
6 |
83,056,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Pcgf1
|
UTSW |
6 |
83,057,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0764:Pcgf1
|
UTSW |
6 |
83,056,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Pcgf1
|
UTSW |
6 |
83,056,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Pcgf1
|
UTSW |
6 |
83,056,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Pcgf1
|
UTSW |
6 |
83,056,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4732:Pcgf1
|
UTSW |
6 |
83,056,938 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4733:Pcgf1
|
UTSW |
6 |
83,056,938 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5569:Pcgf1
|
UTSW |
6 |
83,056,686 (GRCm39) |
nonsense |
probably null |
|
|
R9070:Pcgf1
|
UTSW |
6 |
83,057,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Pcgf1
|
UTSW |
6 |
83,056,433 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9400:Pcgf1
|
UTSW |
6 |
83,057,066 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGGTGAAGGTATGTC -3'
(R):5'- CAGATACAAGTTAGAGGGTTCCAC -3'
Sequencing Primer
(F):5'- AAAGCCCTCAGAGCATCTCTTTTG -3'
(R):5'- CAAGTTAGAGGGTTCCACTTTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation