Incidental Mutation 'R3159:Jade3'
ID 258081
Institutional Source Beutler Lab
Gene Symbol Jade3
Ensembl Gene ENSMUSG00000037315
Gene Name jade family PHD finger 3
Synonyms Phf16
MMRRC Submission 040610-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R3159 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 20291927-20386178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20345783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 54 (K54E)
Ref Sequence ENSEMBL: ENSMUSP00000153028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043693] [ENSMUST00000115384] [ENSMUST00000224892]
AlphaFold Q6IE82
Predicted Effect probably damaging
Transcript: ENSMUST00000043693
AA Change: K53E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048529
Gene: ENSMUSG00000037315
AA Change: K53E

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 damaging
Transcript: ENSMUST00000115384
AA Change: K54E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111042
Gene: ENSMUSG00000037315
AA Change: K54E

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 noncoding transcript
Transcript: ENSMUST00000136093
Predicted Effect probably damaging
Transcript: ENSMUST00000224892
AA Change: K54E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp1 T C 3: 37,013,564 (GRCm39) V1931A probably benign Het
Ccdc146 T C 5: 21,604,790 (GRCm39) E16G unknown Het
Ccr4 G T 9: 114,321,350 (GRCm39) N238K probably benign Het
Cdk15 T C 1: 59,340,440 (GRCm39) I313T probably damaging Het
Celsr3 T C 9: 108,704,909 (GRCm39) V464A possibly damaging Het
Cfap54 T C 10: 92,834,918 (GRCm39) I1096V probably benign Het
Dmpk A G 7: 18,826,944 (GRCm39) T579A probably benign Het
Dscam T C 16: 96,479,710 (GRCm39) T1146A probably benign Het
Galnt12 A G 4: 47,104,264 (GRCm39) D174G probably damaging Het
Gm5145 A G 17: 20,791,155 (GRCm39) I178V probably benign Het
Gxylt1 A G 15: 93,142,913 (GRCm39) I384T probably benign Het
Hmgcr C T 13: 96,802,355 (GRCm39) V110I probably damaging Het
Hsd17b2 A C 8: 118,485,491 (GRCm39) D318A probably damaging Het
Ighv8-6 A G 12: 115,129,508 (GRCm39) S83P probably damaging Het
Isg20 C A 7: 78,564,201 (GRCm39) A36E possibly damaging Het
Mark1 A T 1: 184,640,584 (GRCm39) Y505N probably damaging Het
Mmp11 C T 10: 75,762,948 (GRCm39) probably benign Het
Myo1g G T 11: 6,464,527 (GRCm39) T511K possibly damaging Het
Ociad1 A T 5: 73,467,688 (GRCm39) R155* probably null Het
Or5t7 A G 2: 86,506,855 (GRCm39) I274T probably benign Het
Pcdha2 C T 18: 37,074,250 (GRCm39) T627I probably damaging Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Rbm48 A T 5: 3,646,105 (GRCm39) V33D possibly damaging Het
Rfx6 A T 10: 51,602,816 (GRCm39) R778W probably damaging Het
Sav1 A T 12: 70,031,326 (GRCm39) D65E probably benign Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Shank2 C A 7: 143,635,611 (GRCm39) N328K probably damaging Het
Slc8a3 C A 12: 81,361,766 (GRCm39) R351L probably damaging Het
Slc9b1 G A 3: 135,077,606 (GRCm39) G100E probably damaging Het
Slit1 A G 19: 41,592,812 (GRCm39) Y1214H probably benign Het
Smu1 T A 4: 40,754,529 (GRCm39) R123S possibly damaging Het
Tgfb3 A T 12: 86,105,760 (GRCm39) W332R probably damaging Het
Tmem132a C T 19: 10,836,901 (GRCm39) W680* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav4-4-dv10 A T 14: 53,921,559 (GRCm39) K86* probably null Het
Zfp667 T C 7: 6,308,999 (GRCm39) C556R probably damaging Het
Zranb3 A G 1: 127,900,686 (GRCm39) I713T probably benign Het
Other mutations in Jade3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Jade3 APN X 20,379,063 (GRCm39) missense probably benign 0.06
R1510:Jade3 UTSW X 20,384,057 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATTCAGAAGAGCTGGCTTCC -3'
(R):5'- ACCCAAGAGAGCTCTTTCCCTC -3'

Sequencing Primer
(F):5'- AGAAGAGCTGGCTTCCCTCTTC -3'
(R):5'- GAGAGCTCTTTCCCTCAGTCAAAG -3'
Posted On 2015-01-23