Incidental Mutation 'IGL02751:Pygo1'
ID306299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygo1
Ensembl Gene ENSMUSG00000034910
Gene Namepygopus 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02751
Quality Score
Status
Chromosome9
Chromosomal Location72925645-72952181 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72945037 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 169 (I169F)
Ref Sequence ENSEMBL: ENSMUSP00000044368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038489]
PDB Structure
Crystal Structure Analysis of the PHD domain of the Transcription Coactivator Pygophus [X-RAY DIFFRACTION]
Structural analysis of PHD domain of Pygopus complexed with trimethylated histone H3 peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000038489
AA Change: I169F

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: I169F

DomainStartEndE-ValueType
low complexity region 17 27 N/A INTRINSIC
Blast:HECTc 28 125 6e-28 BLAST
PHD 340 394 5.57e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and show no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Klhl30 T A 1: 91,354,099 F141I probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Pygo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Pygo1 APN 9 72945288 missense probably damaging 1.00
IGL02033:Pygo1 APN 9 72945401 missense possibly damaging 0.59
IGL02445:Pygo1 APN 9 72925940 missense probably benign 0.12
IGL02938:Pygo1 APN 9 72944738 missense probably damaging 1.00
R1809:Pygo1 UTSW 9 72944796 missense probably damaging 1.00
R2190:Pygo1 UTSW 9 72945247 nonsense probably null
R5037:Pygo1 UTSW 9 72944917 missense probably damaging 0.98
R5523:Pygo1 UTSW 9 72944984 missense possibly damaging 0.68
R5539:Pygo1 UTSW 9 72944779 missense probably damaging 1.00
R6163:Pygo1 UTSW 9 72944698 missense probably damaging 1.00
R6340:Pygo1 UTSW 9 72945429 missense probably damaging 1.00
R6803:Pygo1 UTSW 9 72942985 missense probably damaging 1.00
Posted On2015-04-16