Incidental Mutation 'IGL02411:Jade3'
ID292297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jade3
Ensembl Gene ENSMUSG00000037315
Gene Namejade family PHD finger 3
SynonymsPhf16
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.375) question?
Stock #IGL02411
Quality Score
Status
ChromosomeX
Chromosomal Location20425688-20519939 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 20512824 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 512 (V512A)
Ref Sequence ENSEMBL: ENSMUSP00000048529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043693] [ENSMUST00000115384] [ENSMUST00000224892]
Predicted Effect probably benign
Transcript: ENSMUST00000043693
AA Change: V511A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048529
Gene: ENSMUSG00000037315
AA Change: V511A

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:EPL1 28 178 5.5e-24 PFAM
PHD 202 248 2.08e-11 SMART
PHD 311 366 7.7e-6 SMART
low complexity region 565 579 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115384
AA Change: V512A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111042
Gene: ENSMUSG00000037315
AA Change: V512A

DomainStartEndE-ValueType
Pfam:EPL1 3 179 3e-13 PFAM
PHD 203 249 2.08e-11 SMART
PHD 312 367 7.7e-6 SMART
low complexity region 566 580 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224892
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of large proteins containing PHD (plant homeo domain)-type zinc fingers. The encoded protein may be associated in a nuclear complex that functions in histone H4 acetylation. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably null Het
AI661453 T G 17: 47,467,338 L663R probably benign Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 probably benign Het
Dntt T A 19: 41,052,985 probably null Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1567S probably null Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 probably benign Het
Rsu1 T G 2: 13,077,497 probably benign Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Other mutations in Jade3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1510:Jade3 UTSW X 20517818 missense probably benign 0.02
R3159:Jade3 UTSW X 20479544 missense probably damaging 1.00
Posted OnApr 16, 2015