Incidental Mutation 'IGL00911:Pcgf1'
| ID |
27600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcgf1
|
| Ensembl Gene |
ENSMUSG00000069678 |
| Gene Name |
polycomb group ring finger 1 |
| Synonyms |
2010002K04Rik, Nspc1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83054850-83057836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83057606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 92
(G92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092614]
[ENSMUST00000165164]
[ENSMUST00000176027]
[ENSMUST00000176089]
[ENSMUST00000176100]
[ENSMUST00000177177]
|
| AlphaFold |
Q8R023 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092614
AA Change: G231S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090277
Gene: ENSMUSG00000069678
AA Change: G231S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
35 |
73 |
6.58e-5 |
SMART |
|
PDB:4HPM|D
|
155 |
243 |
9e-45 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165164
AA Change: G243S
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130614
Gene: ENSMUSG00000069678
AA Change: G243S
| 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 damaging
Transcript: ENSMUST00000176089
AA Change: G92S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135268
Gene: ENSMUSG00000069678
AA Change: G92S
| 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: G160S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135291
Gene: ENSMUSG00000069678
AA Change: G160S
| 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: ENSMUST00000204211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193381
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
| Other mutations in Pcgf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation