Incidental Mutation 'R0764:Pcgf1'
| ID |
72550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcgf1
|
| Ensembl Gene |
ENSMUSG00000069678 |
| Gene Name |
polycomb group ring finger 1 |
| Synonyms |
2010002K04Rik, Nspc1 |
| MMRRC Submission |
038944-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83054850-83057836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83056150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 2
(C2R)
|
| 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: C73R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090277
Gene: ENSMUSG00000069678
AA Change: C73R
| 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: C85R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130614
Gene: ENSMUSG00000069678
AA Change: C85R
| 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: C2R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135664
Gene: ENSMUSG00000069678
AA Change: C2R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CKL|A
|
1 |
46 |
2e-13 |
PDB |
|
PDB:4HPM|D
|
84 |
106 |
1e-5 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176089
AA Change: C2R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135268
Gene: ENSMUSG00000069678
AA Change: C2R
| 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: C2R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135291
Gene: ENSMUSG00000069678
AA Change: C2R
| 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 |
0.9751 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,950,772 (GRCm39) |
Y898N |
probably damaging |
Het |
| Acp4 |
T |
C |
7: 43,901,738 (GRCm39) |
|
probably benign |
Het |
| Adipor2 |
T |
C |
6: 119,334,215 (GRCm39) |
I332V |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,248,885 (GRCm39) |
K555N |
possibly damaging |
Het |
| Angpt4 |
A |
G |
2: 151,753,204 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
G |
T |
7: 51,187,590 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
C |
T |
13: 94,616,387 (GRCm39) |
|
probably benign |
Het |
| Cbl |
A |
T |
9: 44,075,449 (GRCm39) |
C399S |
probably damaging |
Het |
| Cdkl2 |
C |
A |
5: 92,168,136 (GRCm39) |
V353L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,705,017 (GRCm39) |
Y500C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,083,798 (GRCm39) |
S1242P |
probably damaging |
Het |
| Crhr1 |
C |
T |
11: 104,050,152 (GRCm39) |
R66W |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,749,907 (GRCm39) |
E170G |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,600,685 (GRCm39) |
F305L |
probably damaging |
Het |
| Fam76a |
C |
T |
4: 132,638,010 (GRCm39) |
G198R |
probably damaging |
Het |
| Gm43302 |
T |
A |
5: 105,428,355 (GRCm39) |
I130F |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,424,832 (GRCm39) |
I745N |
possibly damaging |
Het |
| Ina |
T |
A |
19: 47,012,087 (GRCm39) |
*502K |
probably null |
Het |
| Kdm1b |
A |
T |
13: 47,222,079 (GRCm39) |
D506V |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,659,249 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
A |
15: 75,092,572 (GRCm39) |
F97Y |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,353,613 (GRCm39) |
D1215E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,879 (GRCm39) |
|
probably benign |
Het |
| Nectin2 |
T |
A |
7: 19,483,096 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2aj5 |
G |
T |
16: 19,425,182 (GRCm39) |
P79T |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,340 (GRCm39) |
V138A |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,961,520 (GRCm39) |
|
probably benign |
Het |
| Otog |
A |
G |
7: 45,949,918 (GRCm39) |
D2460G |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,357,142 (GRCm39) |
V674M |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,611 (GRCm39) |
P218S |
probably damaging |
Het |
| Plod3 |
C |
T |
5: 137,018,437 (GRCm39) |
|
probably benign |
Het |
| Purb |
C |
T |
11: 6,425,661 (GRCm39) |
V76M |
probably damaging |
Het |
| Ranbp1 |
C |
A |
16: 18,058,022 (GRCm39) |
E181* |
probably null |
Het |
| Rit2 |
T |
C |
18: 31,286,754 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,566 (GRCm39) |
T399K |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,746 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
A |
14: 49,543,796 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf17 |
C |
T |
16: 11,133,063 (GRCm39) |
T47M |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,649,933 (GRCm39) |
I97T |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,730,604 (GRCm39) |
|
probably benign |
Het |
| Zfp113 |
T |
A |
5: 138,143,506 (GRCm39) |
Q248L |
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 |
|
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 |
|
R4283: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'- CTGAATGAACACATCGTTTGCTGCC -3'
(R):5'- TCAAGGTGCCACCCAGCATTAGAG -3'
Sequencing Primer
(F):5'- AGTGTCTCCACACCTGTGAG -3'
(R):5'- ATTAGAGTCAGGAGGCCCCAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation