Incidental Mutation 'R1809:Pygo1'
ID 203711
Institutional Source Beutler Lab
Gene Symbol Pygo1
Ensembl Gene ENSMUSG00000034910
Gene Name pygopus 1
Synonyms 2600014C22Rik
MMRRC Submission 039838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1809 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72832927-72859463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72852078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 88 (N88K)
Ref Sequence ENSEMBL: ENSMUSP00000044368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038489]
AlphaFold Q9D0P5
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 damaging
Transcript: ENSMUST00000038489
AA Change: N88K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: N88K

DomainStartEndE-ValueType
low complexity region 17 27 N/A INTRINSIC
Blast:HECTc 28 125 6e-28 BLAST
PHD 340 394 5.57e-3 SMART
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 96% (107/111)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 36,000,614 (GRCm39) probably benign Het
Adamts20 C T 15: 94,238,968 (GRCm39) S750N probably damaging Het
Adh6a G A 3: 138,036,722 (GRCm39) R370H possibly damaging Het
Akr1b7 A G 6: 34,396,046 (GRCm39) N183D probably damaging Het
Aktip A T 8: 91,856,348 (GRCm39) I43N probably damaging Het
Ankrd26 A T 6: 118,502,883 (GRCm39) probably benign Het
Ano9 G A 7: 140,688,717 (GRCm39) T144I possibly damaging Het
Anpep G T 7: 79,491,571 (GRCm39) D143E probably benign Het
Aox1 C A 1: 58,333,484 (GRCm39) Q234K probably benign Het
Ap1g1 C G 8: 110,559,814 (GRCm39) probably benign Het
Arhgef4 G A 1: 34,849,636 (GRCm39) probably null Het
Arsj A G 3: 126,231,944 (GRCm39) Y230C possibly damaging Het
Asmt C T X: 169,109,480 (GRCm39) probably benign Het
Astl A T 2: 127,187,405 (GRCm39) K72N probably damaging Het
Atp2b2 G A 6: 113,780,704 (GRCm39) probably benign Het
Baiap2l1 A C 5: 144,261,365 (GRCm39) probably null Het
C7 A T 15: 5,063,821 (GRCm39) N193K probably damaging Het
Cacna2d4 G T 6: 119,247,785 (GRCm39) R362L probably damaging Het
Cct4 T A 11: 22,947,615 (GRCm39) D189E probably benign Het
Cd300lg G A 11: 101,933,938 (GRCm39) G62S probably benign Het
Cdk14 T A 5: 5,060,901 (GRCm39) M307L probably damaging Het
Cfi G A 3: 129,666,768 (GRCm39) probably null Het
Clec2g G T 6: 128,957,273 (GRCm39) probably null Het
Cntnap2 T C 6: 46,965,609 (GRCm39) S807P probably damaging Het
Col6a3 T A 1: 90,755,671 (GRCm39) H206L probably damaging Het
Ct55 A G X: 52,735,716 (GRCm39) E99G probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Degs1l T C 1: 180,887,252 (GRCm39) I279T probably damaging Het
Dlec1 T C 9: 118,965,767 (GRCm39) V1058A probably benign Het
Dpp9 A G 17: 56,506,038 (GRCm39) Y454H probably damaging Het
Drosha G A 15: 12,890,198 (GRCm39) G920R probably null Het
Duox2 A G 2: 122,114,378 (GRCm39) S1142P possibly damaging Het
Fam13a C T 6: 58,942,045 (GRCm39) probably null Het
Filip1l A G 16: 57,327,023 (GRCm39) R18G probably benign Het
Foxa1 A G 12: 57,589,527 (GRCm39) V231A probably damaging Het
Gm4787 A T 12: 81,425,303 (GRCm39) M285K possibly damaging Het
Gm5084 T A 13: 60,360,320 (GRCm39) noncoding transcript Het
Gm6788 G A 19: 28,740,586 (GRCm39) noncoding transcript Het
Gm9922 G T 14: 101,966,841 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,723,988 (GRCm39) Y440* probably null Het
Helq A G 5: 100,921,820 (GRCm39) S795P probably damaging Het
Helz T A 11: 107,489,997 (GRCm39) S151T possibly damaging Het
Irgm1 T C 11: 48,757,440 (GRCm39) T124A probably benign Het
Itgam C T 7: 127,670,109 (GRCm39) P134S possibly damaging Het
Kdm6a T C X: 18,102,923 (GRCm39) Y217H probably benign Het
Kif6 T C 17: 50,208,812 (GRCm39) L744P probably benign Het
Kmt2c C T 5: 25,489,190 (GRCm39) R1203H probably damaging Het
Ksr2 A G 5: 117,693,535 (GRCm39) T328A probably damaging Het
Lig1 T C 7: 13,034,281 (GRCm39) probably benign Het
Lpar3 G A 3: 145,946,303 (GRCm39) probably benign Het
Lrrk2 T C 15: 91,584,095 (GRCm39) F285S possibly damaging Het
Marchf7 A G 2: 60,062,637 (GRCm39) D148G probably benign Het
Mcee T C 7: 64,050,049 (GRCm39) L60S probably damaging Het
Mob2 A G 7: 141,570,111 (GRCm39) I81T probably damaging Het
Mphosph8 T A 14: 56,909,909 (GRCm39) D87E probably damaging Het
Msantd5f9 A G 4: 73,835,754 (GRCm39) F237L probably benign Het
Myo1g T C 11: 6,462,283 (GRCm39) T560A probably benign Het
Nagk C T 6: 83,774,169 (GRCm39) T42I probably benign Het
Naip1 G T 13: 100,562,747 (GRCm39) T806K probably benign Het
Ncor2 A G 5: 125,195,857 (GRCm39) probably benign Het
Ocln G T 13: 100,647,967 (GRCm39) Y401* probably null Het
Odad2 T A 18: 7,211,630 (GRCm39) Y748F probably benign Het
Oma1 T A 4: 103,182,374 (GRCm39) N292K probably damaging Het
Or8b55 G A 9: 38,727,443 (GRCm39) V215I probably benign Het
Ovch2 T A 7: 107,389,412 (GRCm39) probably null Het
Pcdhb16 T C 18: 37,611,441 (GRCm39) F134L probably damaging Het
Pipox A T 11: 77,772,360 (GRCm39) Y337N probably benign Het
Polr3b A G 10: 84,528,865 (GRCm39) D763G probably damaging Het
Rab3gap1 T C 1: 127,862,251 (GRCm39) M674T probably damaging Het
Rbm25 T C 12: 83,719,501 (GRCm39) probably benign Het
Rbm26 C T 14: 105,354,542 (GRCm39) probably benign Het
Rbms2 G A 10: 127,974,055 (GRCm39) T187I possibly damaging Het
Rnase11 T A 14: 51,287,184 (GRCm39) R123S probably benign Het
Rngtt A G 4: 33,443,614 (GRCm39) N485D probably benign Het
Rp1l1 A T 14: 64,265,415 (GRCm39) M334L probably benign Het
Rps9 T A 7: 3,707,726 (GRCm39) L56Q probably damaging Het
Saysd1 C A 14: 20,133,170 (GRCm39) probably benign Het
Sema4d C T 13: 51,867,727 (GRCm39) probably null Het
Shisa5 A T 9: 108,869,998 (GRCm39) D34V probably damaging Het
Skil A G 3: 31,171,655 (GRCm39) D547G probably damaging Het
Slc2a5 T A 4: 150,227,514 (GRCm39) F444L probably damaging Het
Slc9b2 T G 3: 135,022,892 (GRCm39) C10G possibly damaging Het
Sorcs2 G T 5: 36,386,564 (GRCm39) probably benign Het
Stk17b T G 1: 53,805,140 (GRCm39) K140N possibly damaging Het
Stradb T A 1: 59,033,549 (GRCm39) L404Q possibly damaging Het
Synj2 T C 17: 6,076,826 (GRCm39) M432T possibly damaging Het
Tanc1 G T 2: 59,630,441 (GRCm39) R800L probably damaging Het
Tenm4 A G 7: 96,522,987 (GRCm39) M1473V probably benign Het
Tesc A G 5: 118,199,667 (GRCm39) I190V probably benign Het
Tex15 T C 8: 34,064,262 (GRCm39) F1231L probably benign Het
Thrsp T C 7: 97,066,332 (GRCm39) I127V probably benign Het
Tlr6 A T 5: 65,111,055 (GRCm39) C617* probably null Het
Trank1 A T 9: 111,221,893 (GRCm39) I2877F probably benign Het
Tut4 T A 4: 108,406,552 (GRCm39) H1373Q probably damaging Het
Ucp1 T C 8: 84,024,496 (GRCm39) S274P probably damaging Het
Ucp2 T A 7: 100,147,606 (GRCm39) V195E probably damaging Het
Vars2 T C 17: 35,973,108 (GRCm39) T394A probably damaging Het
Vmn1r1 A G 1: 181,985,371 (GRCm39) V98A possibly damaging Het
Vmn1r225 A G 17: 20,722,918 (GRCm39) I120V probably benign Het
Vmn2r102 A T 17: 19,897,881 (GRCm39) M299L probably benign Het
Vmn2r25 A G 6: 123,802,337 (GRCm39) V522A probably benign Het
Vmn2r70 T C 7: 85,215,130 (GRCm39) I135V probably benign Het
Vwf T C 6: 125,567,138 (GRCm39) probably benign Het
Zfp446 T C 7: 12,713,048 (GRCm39) F29L probably damaging Het
Other mutations in Pygo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Pygo1 APN 9 72,852,570 (GRCm39) missense probably damaging 1.00
IGL02033:Pygo1 APN 9 72,852,683 (GRCm39) missense possibly damaging 0.59
IGL02445:Pygo1 APN 9 72,833,222 (GRCm39) missense probably benign 0.12
IGL02751:Pygo1 APN 9 72,852,319 (GRCm39) missense probably benign 0.09
IGL02938:Pygo1 APN 9 72,852,020 (GRCm39) missense probably damaging 1.00
R2190:Pygo1 UTSW 9 72,852,529 (GRCm39) nonsense probably null
R5037:Pygo1 UTSW 9 72,852,199 (GRCm39) missense probably damaging 0.98
R5523:Pygo1 UTSW 9 72,852,266 (GRCm39) missense possibly damaging 0.68
R5539:Pygo1 UTSW 9 72,852,061 (GRCm39) missense probably damaging 1.00
R6163:Pygo1 UTSW 9 72,851,980 (GRCm39) missense probably damaging 1.00
R6340:Pygo1 UTSW 9 72,852,711 (GRCm39) missense probably damaging 1.00
R6803:Pygo1 UTSW 9 72,850,267 (GRCm39) missense probably damaging 1.00
R7716:Pygo1 UTSW 9 72,850,208 (GRCm39) missense probably damaging 1.00
R8137:Pygo1 UTSW 9 72,852,140 (GRCm39) missense probably damaging 1.00
R8419:Pygo1 UTSW 9 72,852,380 (GRCm39) missense probably damaging 1.00
R8774:Pygo1 UTSW 9 72,852,436 (GRCm39) missense possibly damaging 0.76
R8774-TAIL:Pygo1 UTSW 9 72,852,436 (GRCm39) missense possibly damaging 0.76
R9140:Pygo1 UTSW 9 72,852,988 (GRCm39) missense probably benign 0.01
R9153:Pygo1 UTSW 9 72,852,143 (GRCm39) missense possibly damaging 0.93
R9456:Pygo1 UTSW 9 72,833,056 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTCAATATAAACGTCGGGGAGG -3'
(R):5'- CGAATTATCATGCGGCCCAAAG -3'

Sequencing Primer
(F):5'- GCAATTGAAGAAACTGAACTTGC -3'
(R):5'- TATCATGCGGCCCAAAGTTAAAAG -3'
Posted On 2014-06-23