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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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