Incidental Mutation 'IGL02364:Phf20'
ID290657
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 #IGL02364
Quality Score
Status
Chromosome2
Chromosomal Location156196466-156309952 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 156294097 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 612 (E612G)
Ref Sequence ENSEMBL: ENSMUSP00000043138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037401]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037401
AA Change: E612G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: E612G

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: ENSMUST00000132352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147242
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,082,300 D47E probably damaging Het
Bdp1 A T 13: 100,055,308 probably benign Het
Car8 T C 4: 8,183,321 I225V probably benign Het
Cc2d2a T A 5: 43,735,450 N1390K probably damaging Het
Coasy T C 11: 101,084,358 V247A possibly damaging Het
Dgkq A G 5: 108,656,444 V50A probably benign Het
Dixdc1 A T 9: 50,682,631 probably benign Het
Dmxl2 G A 9: 54,393,843 A2328V probably benign Het
Exoc3l C A 8: 105,290,577 V593L possibly damaging Het
Eya3 T C 4: 132,710,055 S409P probably damaging Het
Fam71a T C 1: 191,163,516 N310S probably benign Het
Gbp4 A T 5: 105,136,874 S50T probably damaging Het
Gm5885 A G 6: 133,530,129 noncoding transcript Het
Hypm G T X: 9,847,390 probably benign Het
Igkv12-89 A T 6: 68,834,986 Y66* probably null Het
Itgax G A 7: 128,139,982 V601M possibly damaging Het
Kank3 T C 17: 33,818,850 V291A probably benign Het
Klhl9 A G 4: 88,721,170 M278T probably damaging Het
Lrrc43 G A 5: 123,501,212 D435N possibly damaging Het
Ly75 A T 2: 60,358,507 S292T probably damaging Het
Mchr1 G A 15: 81,237,279 V77I probably benign Het
Mga T A 2: 119,964,054 C2622S possibly damaging Het
Neb G T 2: 52,296,254 Y935* probably null Het
Pkhd1 A G 1: 20,200,783 L3182P probably benign Het
Rnf130 T C 11: 50,095,840 V337A probably benign Het
Slfn10-ps T C 11: 83,032,291 noncoding transcript Het
Sorcs1 G A 19: 50,333,598 P249L probably damaging Het
Spata13 C T 14: 60,691,274 R94C probably damaging Het
Stk38 C T 17: 28,991,416 R63Q probably benign Het
Tmem220 C A 11: 67,034,188 H174N probably benign Het
Tmem68 C A 4: 3,560,536 R216L probably damaging Het
Trim29 G A 9: 43,311,302 V143M probably benign Het
Ubqln2 T C X: 153,499,910 L486P possibly damaging Het
Usp17le G A 7: 104,768,775 Q387* probably null Het
Vps33b A G 7: 80,287,839 E445G probably damaging Het
Other mutations in Phf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Phf20 APN 2 156304816 critical splice donor site probably null
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
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 On2015-04-16