Incidental Mutation 'R4324:Pcgf1'
ID |
323959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcgf1
|
Ensembl Gene |
ENSMUSG00000069678 |
Gene Name |
polycomb group ring finger 1 |
Synonyms |
2010002K04Rik, Nspc1 |
MMRRC Submission |
041095-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4324 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83054850-83057836 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 83056938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092614]
[ENSMUST00000165164]
[ENSMUST00000176027]
[ENSMUST00000176089]
[ENSMUST00000176089]
[ENSMUST00000176100]
[ENSMUST00000177177]
[ENSMUST00000177177]
|
AlphaFold |
Q8R023 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092614
|
SMART Domains |
Protein: ENSMUSP00000090277 Gene: ENSMUSG00000069678
Domain | Start | End | E-Value | Type |
RING
|
35 |
73 |
6.58e-5 |
SMART |
PDB:4HPM|D
|
155 |
243 |
9e-45 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165164
|
SMART Domains |
Protein: ENSMUSP00000130614 Gene: ENSMUSG00000069678
Domain | Start | End | E-Value | Type |
RING
|
47 |
85 |
6.58e-5 |
SMART |
Pfam:RAWUL
|
174 |
253 |
9.7e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176027
|
SMART Domains |
Protein: ENSMUSP00000135664 Gene: ENSMUSG00000069678
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 null
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 null
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 null
Transcript: ENSMUST00000177177
|
SMART Domains |
Protein: ENSMUSP00000135291 Gene: ENSMUSG00000069678
Domain | Start | End | E-Value | Type |
PDB:2CKL|A
|
1 |
46 |
2e-12 |
PDB |
PDB:4HPM|D
|
84 |
172 |
7e-46 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177177
|
SMART Domains |
Protein: ENSMUSP00000135291 Gene: ENSMUSG00000069678
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly 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 |
R4283:Pcgf1
|
UTSW |
6 |
83,056,714 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGAAGTGATACTACTGGTGACCC -3'
(R):5'- TTTCCCCGTAACATGATGGGC -3'
Sequencing Primer
(F):5'- TGGTGACCCAGATGCTAAGG -3'
(R):5'- CCGTAACATGATGGGCTTACTTAC -3'
|
Posted On |
2015-06-24 |