Incidental Mutation 'IGL01726:Pcgf1'
ID 105306
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) question?
Stock # IGL01726
Quality Score
Status
Chromosome 6
Chromosomal Location 83054850-83057836 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 83055867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092614] [ENSMUST00000165164] [ENSMUST00000176027] [ENSMUST00000176089] [ENSMUST00000176100] [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: 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 noncoding transcript
Transcript: ENSMUST00000193381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204211
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,638,147 (GRCm39) probably null Het
Arpc2 A G 1: 74,287,338 (GRCm39) T53A probably benign Het
Ccdc170 C A 10: 4,499,713 (GRCm39) L545M probably benign Het
Ccm2l T C 2: 152,922,821 (GRCm39) probably benign Het
Celsr1 T C 15: 85,810,391 (GRCm39) N2166D probably benign Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Clcnka C T 4: 141,120,051 (GRCm39) probably null Het
Clip2 A T 5: 134,551,518 (GRCm39) N201K probably damaging Het
Cyp1a2 G A 9: 57,589,485 (GRCm39) L110F possibly damaging Het
Dhtkd1 T C 2: 5,947,467 (GRCm39) T6A unknown Het
Enthd1 A C 15: 80,336,652 (GRCm39) L594R probably damaging Het
Espnl A G 1: 91,272,626 (GRCm39) D618G probably benign Het
Gm6096 A T 7: 33,950,904 (GRCm39) I148F probably damaging Het
Hsf5 C T 11: 87,526,951 (GRCm39) T541I probably benign Het
Il18r1 A G 1: 40,537,563 (GRCm39) S443G possibly damaging Het
Il1a T C 2: 129,146,640 (GRCm39) D151G possibly damaging Het
Ints1 A G 5: 139,754,166 (GRCm39) probably benign Het
Kcnh1 A C 1: 192,188,164 (GRCm39) D875A possibly damaging Het
Naip6 T A 13: 100,439,760 (GRCm39) I336F probably benign Het
Napepld A G 5: 21,880,657 (GRCm39) F246S possibly damaging Het
Nova1 C T 12: 46,760,280 (GRCm39) probably null Het
Nsa2 C A 13: 97,268,525 (GRCm39) A181S probably damaging Het
Ntn5 C A 7: 45,343,671 (GRCm39) R337S probably damaging Het
Nynrin T C 14: 56,101,611 (GRCm39) S427P probably benign Het
Or52e5 A G 7: 104,718,836 (GRCm39) E54G probably damaging Het
Pfn4 T A 12: 4,824,446 (GRCm39) L58I probably benign Het
Plekha1 C A 7: 130,499,059 (GRCm39) P116Q probably damaging Het
Pou5f2 T C 13: 78,173,300 (GRCm39) S81P possibly damaging Het
Prag1 A G 8: 36,570,146 (GRCm39) D243G probably damaging Het
Rbm26 G A 14: 105,389,943 (GRCm39) P227L probably damaging Het
Rgl1 A T 1: 152,394,904 (GRCm39) N756K probably damaging Het
Rhou A T 8: 124,380,880 (GRCm39) T66S possibly damaging Het
Rspo3 A T 10: 29,380,704 (GRCm39) D103E probably benign Het
Rundc3b T C 5: 8,570,902 (GRCm39) K306E probably benign Het
Slc25a32 A G 15: 38,965,466 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Tars3 A G 7: 65,332,566 (GRCm39) T556A possibly damaging Het
Tmem266 A G 9: 55,342,486 (GRCm39) K324E probably benign Het
Tnrc6c T C 11: 117,640,161 (GRCm39) probably benign Het
Trappc9 A T 15: 72,817,971 (GRCm39) S452T probably damaging Het
Tspear T A 10: 77,717,121 (GRCm39) probably benign Het
Ttll5 T G 12: 85,965,708 (GRCm39) I571S probably benign Het
Ttn T C 2: 76,797,433 (GRCm39) T544A probably benign Het
Ubn1 T C 16: 4,891,334 (GRCm39) probably null Het
Ubr2 C A 17: 47,303,907 (GRCm39) probably benign Het
Usp21 A T 1: 171,111,574 (GRCm39) W360R probably damaging Het
Vmn2r62 A T 7: 42,414,526 (GRCm39) L639H probably damaging Het
Zc3h7b T A 15: 81,656,000 (GRCm39) I116N possibly damaging Het
Zfp618 C T 4: 63,050,872 (GRCm39) T551I probably damaging Het
Zfp804b T C 5: 7,230,707 (GRCm39) probably benign Het
Zkscan8 T C 13: 21,704,973 (GRCm39) H322R probably benign Het
Zwint T G 10: 72,493,019 (GRCm39) probably null 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
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 2014-01-21