Incidental Mutation 'R4324:Pcgf1'
ID323959
Institutional Source Beutler Lab
Gene Symbol Pcgf1
Ensembl Gene ENSMUSG00000069678
Gene Namepolycomb group ring finger 1
SynonymsNspc1, 2010002K04Rik
MMRRC Submission 041095-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4324 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location83077869-83080855 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 83079957 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092614] [ENSMUST00000165164] [ENSMUST00000176027] [ENSMUST00000176089] [ENSMUST00000176089] [ENSMUST00000176100] [ENSMUST00000177177] [ENSMUST00000177177]
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: 90,507,905 D583G probably benign Het
Alg9 T G 9: 50,805,343 H22Q probably damaging Het
Aqp6 G A 15: 99,601,410 M1I probably null Het
Arhgef10 T A 8: 14,940,335 I270N possibly damaging Het
Asb13 G T 13: 3,645,012 R160L possibly damaging Het
Atg10 T A 13: 91,040,966 D75V probably damaging Het
Atxn7l2 A T 3: 108,205,832 D218E probably damaging Het
Ccdc191 A G 16: 43,947,509 E624G probably damaging Het
Cdan1 T C 2: 120,724,979 I760M probably damaging Het
Cdk14 T A 5: 5,036,532 K263* probably null Het
Cdk5rap2 A T 4: 70,353,614 I287N probably damaging Het
Cdkn2aip A T 8: 47,712,173 S168R probably benign Het
Dnah17 C T 11: 118,094,213 V1555M probably benign Het
Dsel T C 1: 111,861,393 T471A probably damaging Het
Dzank1 T C 2: 144,488,698 E478G possibly damaging Het
Enc1 T C 13: 97,245,897 F305S probably benign Het
Epn1 T A 7: 5,097,211 M441K probably benign Het
Fbxw24 C T 9: 109,604,945 probably null Het
Gad1 G A 2: 70,589,830 D353N probably damaging Het
Ggcx A G 6: 72,428,820 S545G probably benign Het
H2-K1 C T 17: 34,000,040 V30M possibly damaging Het
Hipk3 C A 2: 104,446,571 V388L probably damaging Het
Krt82 T A 15: 101,541,747 M505L probably benign Het
Man2a1 A G 17: 64,666,793 I355V probably benign Het
Olfr473 C T 7: 107,933,693 P58S probably damaging Het
Pcbp3 G A 10: 76,763,343 R109* probably null Het
Plekhm2 A T 4: 141,631,857 V533E possibly damaging Het
Prss3 T G 6: 41,373,845 D237A probably benign Het
Rnf125 G A 18: 20,977,760 R25K probably benign Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Shc4 T A 2: 125,678,750 M260L probably benign Het
Spag6l T C 16: 16,787,235 Y151C probably benign Het
Stac3 C T 10: 127,503,249 P76S probably damaging Het
Trpc7 T C 13: 56,887,356 I255V probably damaging Het
Ttn T C 2: 76,908,579 E3872G probably benign Het
Uqcrfs1 A G 13: 30,541,158 V133A probably benign Het
Vmn2r52 T A 7: 10,171,013 T300S possibly damaging Het
Wipi1 A T 11: 109,603,836 I57N possibly damaging Het
Other mutations in Pcgf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Pcgf1 APN 6 83080625 missense probably damaging 1.00
IGL01432:Pcgf1 APN 6 83078417 missense possibly damaging 0.86
IGL01726:Pcgf1 APN 6 83078886 splice site probably null
IGL03394:Pcgf1 APN 6 83079140 missense probably damaging 1.00
R0513:Pcgf1 UTSW 6 83080574 missense probably damaging 0.99
R0764:Pcgf1 UTSW 6 83079169 missense probably damaging 1.00
R1486:Pcgf1 UTSW 6 83079126 missense probably damaging 1.00
R4282:Pcgf1 UTSW 6 83079733 missense probably damaging 1.00
R4283:Pcgf1 UTSW 6 83079733 missense probably damaging 1.00
R4732:Pcgf1 UTSW 6 83079957 critical splice donor site probably benign
R4733:Pcgf1 UTSW 6 83079957 critical splice donor site probably benign
R5569:Pcgf1 UTSW 6 83079705 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAAGTGATACTACTGGTGACCC -3'
(R):5'- TTTCCCCGTAACATGATGGGC -3'

Sequencing Primer
(F):5'- TGGTGACCCAGATGCTAAGG -3'
(R):5'- CCGTAACATGATGGGCTTACTTAC -3'
Posted On2015-06-24