Incidental Mutation 'IGL02411:Jade3'
ID 292297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jade3
Ensembl Gene ENSMUSG00000037315
Gene Name jade family PHD finger 3
Synonyms Phf16
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # IGL02411
Quality Score
Status
Chromosome X
Chromosomal Location 20291927-20386178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20379063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 512 (V512A)
Ref Sequence ENSEMBL: ENSMUSP00000111042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043693] [ENSMUST00000115384] [ENSMUST00000224892]
AlphaFold Q6IE82
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: 64,055,459 (GRCm39) E65G probably benign Het
Abcc8 G A 7: 45,756,431 (GRCm39) R1425C probably damaging Het
Adcy3 A T 12: 4,259,407 (GRCm39) probably null Het
AI661453 T G 17: 47,778,263 (GRCm39) probably benign Het
Arhgef10 A T 8: 15,004,819 (GRCm39) Y445F probably benign Het
Atrx G T X: 104,874,587 (GRCm39) S1924R possibly damaging Het
Clca3a1 T C 3: 144,733,763 (GRCm39) T58A possibly damaging Het
Clec1b A G 6: 129,378,804 (GRCm39) Y97C probably damaging Het
Cobll1 A G 2: 64,928,084 (GRCm39) S1080P probably damaging Het
Crb1 C A 1: 139,176,213 (GRCm39) C529F probably damaging Het
Crim1 C T 17: 78,642,763 (GRCm39) R494* probably null Het
Cyp3a25 A T 5: 145,938,257 (GRCm39) probably benign Het
Dntt T A 19: 41,041,424 (GRCm39) probably null Het
Gjb1 T C X: 100,428,611 (GRCm39) C280R probably damaging Het
Glp1r T A 17: 31,143,485 (GRCm39) C174S probably damaging Het
Gm5414 A T 15: 101,536,269 (GRCm39) Y119N probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gm9796 G T 11: 95,588,756 (GRCm39) noncoding transcript Het
Gm9956 T C 10: 56,621,388 (GRCm39) F17L unknown Het
Il1rap A T 16: 26,529,366 (GRCm39) D396V probably damaging Het
Impa1 T C 3: 10,388,018 (GRCm39) K135E possibly damaging Het
Iqub G A 6: 24,449,810 (GRCm39) A685V probably damaging Het
Kif3a C A 11: 53,461,525 (GRCm39) P57T probably damaging Het
Kndc1 G T 7: 139,501,829 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Maged2 G T X: 149,592,755 (GRCm39) D343E probably benign Het
Magi2 T C 5: 19,883,707 (GRCm39) S120P probably damaging Het
Nxph3 A T 11: 95,401,656 (GRCm39) *253R probably null Het
Oog2 A T 4: 143,921,618 (GRCm39) H194L probably damaging Het
Pcbd2 T G 13: 55,880,764 (GRCm39) W7G probably benign Het
Pcdhb14 T G 18: 37,582,823 (GRCm39) L643R possibly damaging Het
Plch1 G T 3: 63,605,177 (GRCm39) probably null Het
Poln G T 5: 34,270,666 (GRCm39) S455* probably null Het
Ppp2r1a T C 17: 21,171,596 (GRCm39) probably benign Het
Rsu1 T G 2: 13,082,308 (GRCm39) probably benign Het
Serpina10 A T 12: 103,583,202 (GRCm39) M360K possibly damaging Het
Sox30 A T 11: 45,871,951 (GRCm39) K269* probably null Het
Thbs1 T C 2: 117,945,451 (GRCm39) V310A probably benign Het
Tie1 C A 4: 118,343,760 (GRCm39) E61* probably null Het
Tm2d1 G T 4: 98,268,911 (GRCm39) P62Q probably damaging Het
Tpp1 G T 7: 105,398,826 (GRCm39) P201Q probably damaging Het
Trim13 A G 14: 61,842,598 (GRCm39) E205G probably damaging Het
Other mutations in Jade3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1510:Jade3 UTSW X 20,384,057 (GRCm39) missense probably benign 0.02
R3159:Jade3 UTSW X 20,345,783 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16