Incidental Mutation 'IGL03259:Pcgf5'
ID414749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcgf5
Ensembl Gene ENSMUSG00000024805
Gene Namepolycomb group ring finger 5
Synonyms0610009F02Rik, 5830443C21Rik, 5830406C17Rik, 1110054A01Rik, 9530023M17Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.668) question?
Stock #IGL03259
Quality Score
Status
Chromosome19
Chromosomal Location36348309-36460970 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36455659 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 234 (D234E)
Ref Sequence ENSEMBL: ENSMUSP00000153206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062389] [ENSMUST00000071267] [ENSMUST00000224679] [ENSMUST00000224772] [ENSMUST00000225411] [ENSMUST00000225920]
Predicted Effect probably benign
Transcript: ENSMUST00000062389
AA Change: D234E

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058730
Gene: ENSMUSG00000024805
AA Change: D234E

DomainStartEndE-ValueType
RING 18 56 4.05e-5 SMART
low complexity region 86 96 N/A INTRINSIC
Pfam:RAWUL 146 230 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071267
AA Change: D234E

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071245
Gene: ENSMUSG00000024805
AA Change: D234E

DomainStartEndE-ValueType
RING 18 56 4.05e-5 SMART
low complexity region 86 96 N/A INTRINSIC
Pfam:RAWUL 146 230 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224679
AA Change: D254E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224716
Predicted Effect probably benign
Transcript: ENSMUST00000224772
AA Change: D253E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect unknown
Transcript: ENSMUST00000224859
AA Change: D129E
Predicted Effect probably benign
Transcript: ENSMUST00000225411
AA Change: D254E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000225920
AA Change: D234E

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Bone marrow cells from mice homozygous for a conditional allele exhibit normal hematopoietic and progenitor cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 T C 5: 67,624,006 probably null Het
Btbd3 T C 2: 138,279,760 M121T probably damaging Het
Cep192 A T 18: 67,820,412 N500I probably damaging Het
Clca4a A G 3: 144,958,080 L534P probably damaging Het
Cyp2d11 C T 15: 82,390,020 V387M probably damaging Het
Dlgap3 T C 4: 127,200,284 I443T probably benign Het
Heatr5b T A 17: 78,791,556 D1305V probably damaging Het
Hps5 G T 7: 46,763,102 P1021Q probably damaging Het
Iqca T C 1: 90,052,434 D637G probably damaging Het
Kank1 A G 19: 25,430,341 D1233G probably damaging Het
Lad1 A T 1: 135,827,656 R223S probably benign Het
Ms4a13 A G 19: 11,183,846 S110P probably damaging Het
Nmd3 T A 3: 69,745,243 D387E possibly damaging Het
Olfr1087 G T 2: 86,690,550 Q142K probably benign Het
Olfr24 A G 9: 18,755,515 V40A probably benign Het
Olfr57 C A 10: 79,035,400 Y201* probably null Het
Pcnx2 T A 8: 125,753,649 H1973L probably benign Het
Peak1 A G 9: 56,259,967 F226L probably damaging Het
Pgp A G 17: 24,471,048 K180R probably damaging Het
Sdk1 A T 5: 141,953,033 K404* probably null Het
Serinc5 T A 13: 92,690,992 V272D probably damaging Het
Slc4a5 A G 6: 83,270,997 H395R probably damaging Het
Spice1 T A 16: 44,356,167 V40D probably damaging Het
Syne2 A G 12: 75,989,079 I3713M probably benign Het
Vmn1r58 A T 7: 5,411,087 L48* probably null Het
Vwa7 A G 17: 35,020,026 probably null Het
Other mutations in Pcgf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Pcgf5 APN 19 36442868 missense probably damaging 1.00
IGL03184:Pcgf5 APN 19 36434676 splice site probably benign
whalebone UTSW 19 36442939 nonsense probably null
R0318:Pcgf5 UTSW 19 36412190 missense possibly damaging 0.81
R0570:Pcgf5 UTSW 19 36412180 missense probably benign 0.00
R0890:Pcgf5 UTSW 19 36412144 missense probably benign 0.05
R2238:Pcgf5 UTSW 19 36437354 missense probably damaging 0.97
R2239:Pcgf5 UTSW 19 36437354 missense probably damaging 0.97
R3904:Pcgf5 UTSW 19 36440095 missense probably damaging 1.00
R4050:Pcgf5 UTSW 19 36442911 missense probably damaging 0.99
R4209:Pcgf5 UTSW 19 36437340 missense possibly damaging 0.81
R4210:Pcgf5 UTSW 19 36437340 missense possibly damaging 0.81
R4211:Pcgf5 UTSW 19 36437340 missense possibly damaging 0.81
R5202:Pcgf5 UTSW 19 36437183 missense probably damaging 1.00
R5997:Pcgf5 UTSW 19 36434603 missense probably benign 0.35
R6039:Pcgf5 UTSW 19 36442906 missense probably damaging 1.00
R6039:Pcgf5 UTSW 19 36442906 missense probably damaging 1.00
R7060:Pcgf5 UTSW 19 36442939 nonsense probably null
Posted On2016-08-02