Incidental Mutation 'IGL00928:Phf20'
ID26903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf20
Ensembl Gene ENSMUSG00000038116
Gene NamePHD finger protein 20
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.884) question?
Stock #IGL00928
Quality Score
Status
Chromosome2
Chromosomal Location156196466-156309952 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 156304816 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037401]
Predicted Effect probably null
Transcript: ENSMUST00000037401
SMART Domains Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116

DomainStartEndE-ValueType
TUDOR 11 71 5.27e0 SMART
TUDOR 85 141 7.13e-4 SMART
AT_hook 257 269 1.65e0 SMART
low complexity region 323 332 N/A INTRINSIC
ZnF_C2H2 455 480 1.86e0 SMART
low complexity region 486 493 N/A INTRINSIC
low complexity region 526 555 N/A INTRINSIC
low complexity region 612 630 N/A INTRINSIC
PHD 657 701 2.83e-4 SMART
coiled coil region 945 966 N/A INTRINSIC
low complexity region 974 987 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152617
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,398,970 probably benign Het
Ablim3 T C 18: 61,849,406 E156G possibly damaging Het
Adgrb2 A G 4: 129,992,303 T79A probably benign Het
Arel1 A T 12: 84,934,162 V357E probably damaging Het
Asph T C 4: 9,594,675 I241V probably benign Het
B3galt2 A G 1: 143,647,155 Y343C probably damaging Het
Brf1 A G 12: 112,963,600 probably benign Het
Col3a1 A G 1: 45,340,858 probably benign Het
Cps1 A C 1: 67,123,234 T24P probably benign Het
Cyp3a25 A G 5: 145,986,954 L293P possibly damaging Het
Engase C A 11: 118,482,970 R313S possibly damaging Het
Espn A G 4: 152,135,602 S28P probably damaging Het
Gm732 T A X: 107,945,843 E488V possibly damaging Het
Gnas T A 2: 174,297,953 L31* probably null Het
Gorasp2 A G 2: 70,690,864 T393A probably benign Het
Gpc6 T A 14: 116,925,958 V8E possibly damaging Het
Gtf2a1l T C 17: 88,694,462 S202P probably benign Het
Gucy1a2 T C 9: 3,759,777 F528L probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Igsf10 T C 3: 59,330,597 H721R probably benign Het
Kcnu1 T C 8: 25,849,735 F27S probably damaging Het
Mprip T A 11: 59,744,752 W366R probably damaging Het
Myom1 T C 17: 71,089,913 V954A probably damaging Het
Nudt13 T C 14: 20,316,163 I303T possibly damaging Het
Olfr91 A C 17: 37,093,332 S181A probably benign Het
Olfr982 T A 9: 40,074,776 H160Q probably damaging Het
Orc4 A G 2: 48,910,269 V289A probably benign Het
Pamr1 C A 2: 102,639,341 Q411K probably benign Het
Pdcl A G 2: 37,357,374 M1T probably null Het
Pla2r1 T C 2: 60,535,080 S49G probably damaging Het
Ppp2r3c A G 12: 55,292,498 probably null Het
Rdh14 G A 12: 10,394,803 S218N probably damaging Het
Rfx4 A G 10: 84,840,114 R16G probably benign Het
Scarb2 A C 5: 92,446,344 F453C probably damaging Het
Sh2d7 A G 9: 54,541,231 T179A probably benign Het
Spag6l C T 16: 16,767,013 A424T possibly damaging Het
Trim71 T C 9: 114,525,015 D307G probably benign Het
Ufl1 A T 4: 25,267,790 L294M probably damaging Het
Wdr93 C A 7: 79,775,553 P540Q probably damaging Het
Other mutations in Phf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Phf20 APN 2 156294088 splice site probably null
IGL01125:Phf20 APN 2 156303184 splice site probably null
IGL01608:Phf20 APN 2 156276596 missense probably benign
IGL01610:Phf20 APN 2 156302889 nonsense probably null
IGL01845:Phf20 APN 2 156276657 nonsense probably null
IGL02364:Phf20 APN 2 156294097 missense possibly damaging 0.80
IGL02692:Phf20 APN 2 156298578 missense probably damaging 1.00
IGL03039:Phf20 APN 2 156298541 missense probably damaging 1.00
R0016:Phf20 UTSW 2 156267194 nonsense probably null
R0189:Phf20 UTSW 2 156303141 missense probably benign 0.02
R1532:Phf20 UTSW 2 156303049 missense possibly damaging 0.89
R1572:Phf20 UTSW 2 156287834 missense probably benign 0.17
R2007:Phf20 UTSW 2 156287954 missense probably benign 0.00
R2191:Phf20 UTSW 2 156276654 missense probably benign
R3011:Phf20 UTSW 2 156288026 missense probably benign 0.32
R3024:Phf20 UTSW 2 156287867 missense probably damaging 0.96
R4242:Phf20 UTSW 2 156307454 unclassified probably benign
R5053:Phf20 UTSW 2 156273862 missense probably benign 0.00
R5089:Phf20 UTSW 2 156302862 missense probably benign
R5382:Phf20 UTSW 2 156267497 missense probably damaging 1.00
R5649:Phf20 UTSW 2 156251768 splice site probably null
R5707:Phf20 UTSW 2 156296771 intron probably null
R5751:Phf20 UTSW 2 156267341 missense probably benign 0.01
R5805:Phf20 UTSW 2 156307294 missense probably damaging 0.99
R5988:Phf20 UTSW 2 156307330 missense probably damaging 1.00
R6179:Phf20 UTSW 2 156298653 missense probably damaging 1.00
R6243:Phf20 UTSW 2 156223400 missense probably benign 0.16
R6338:Phf20 UTSW 2 156273686 missense possibly damaging 0.93
R6351:Phf20 UTSW 2 156294210 missense possibly damaging 0.91
R6584:Phf20 UTSW 2 156294123 missense probably damaging 0.99
R7248:Phf20 UTSW 2 156293411 splice site probably null
R7329:Phf20 UTSW 2 156304632 missense probably damaging 0.96
R7387:Phf20 UTSW 2 156294240 missense probably damaging 1.00
R7528:Phf20 UTSW 2 156303008 nonsense probably null
R7603:Phf20 UTSW 2 156302851 missense probably benign
R7698:Phf20 UTSW 2 156294138 missense probably damaging 1.00
RF011:Phf20 UTSW 2 156304620 critical splice acceptor site probably benign
RF011:Phf20 UTSW 2 156304621 critical splice acceptor site probably benign
RF028:Phf20 UTSW 2 156304623 critical splice acceptor site probably benign
Posted On2013-04-17