Incidental Mutation 'R5446:Jade2'
ID 429084
Institutional Source Beutler Lab
Gene Symbol Jade2
Ensembl Gene ENSMUSG00000020387
Gene Name jade family PHD finger 2
Synonyms Phf15, 1200017K05Rik
MMRRC Submission 043011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5446 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 51813455-51857653 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51816959 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 809 (V809A)
Ref Sequence ENSEMBL: ENSMUSP00000104719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020655] [ENSMUST00000109090] [ENSMUST00000109091]
AlphaFold Q6ZQF7
Predicted Effect probably benign
Transcript: ENSMUST00000020655
AA Change: V809A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: V809A

DomainStartEndE-ValueType
Pfam:EPL1 39 177 3.4e-17 PFAM
PHD 201 247 1.35e-10 SMART
PHD 310 365 1.74e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109090
SMART Domains Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387

DomainStartEndE-ValueType
Pfam:EPL1 39 177 2e-17 PFAM
PHD 201 247 1.35e-10 SMART
PHD 310 365 1.74e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109091
AA Change: V809A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: V809A

DomainStartEndE-ValueType
Pfam:EPL1 2 176 9.6e-9 PFAM
PHD 201 247 1.35e-10 SMART
PHD 310 365 1.74e-4 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar A G 3: 89,740,179 (GRCm38) N155S probably damaging Het
Ak9 A G 10: 41,420,509 (GRCm38) D1417G possibly damaging Het
Ankrd52 G T 10: 128,388,561 (GRCm38) C736F probably damaging Het
Arhgap15 T A 2: 43,828,760 (GRCm38) H85Q probably benign Het
BC051142 T C 17: 34,440,893 (GRCm38) probably null Het
Bcat2 G A 7: 45,585,145 (GRCm38) R110H possibly damaging Het
Bscl2 A G 19: 8,846,200 (GRCm38) H4R possibly damaging Het
Cdh2 T C 18: 16,646,627 (GRCm38) I126V probably damaging Het
Cnbd2 A C 2: 156,367,661 (GRCm38) E508A possibly damaging Het
Crb2 T C 2: 37,795,449 (GRCm38) I1191T probably benign Het
Dync2h1 T C 9: 7,144,217 (GRCm38) T1075A probably benign Het
Edil3 A C 13: 89,184,838 (GRCm38) H371P possibly damaging Het
Gm5134 T C 10: 75,995,836 (GRCm38) S370P probably damaging Het
Gm9573 T A 17: 35,622,503 (GRCm38) probably benign Het
Helz T C 11: 107,632,204 (GRCm38) V737A probably damaging Het
Klhl23 T A 2: 69,824,238 (GRCm38) C151S probably damaging Het
Krt75 T C 15: 101,571,067 (GRCm38) D276G probably null Het
Lipm C T 19: 34,117,887 (GRCm38) A294V possibly damaging Het
Med13l A G 5: 118,742,397 (GRCm38) N1185D possibly damaging Het
Mmp27 T A 9: 7,573,515 (GRCm38) probably benign Het
Mroh2a A T 1: 88,254,965 (GRCm38) N1205I possibly damaging Het
Npnt A G 3: 132,908,369 (GRCm38) L191P probably damaging Het
Olfr1257 A T 2: 89,881,549 (GRCm38) H241L probably damaging Het
Paip2b T C 6: 83,814,862 (GRCm38) I13V probably benign Het
Pcdhac2 T A 18: 37,145,200 (GRCm38) L411Q probably damaging Het
Plekhd1 A G 12: 80,720,636 (GRCm38) N266S probably benign Het
Pnpla8 A G 12: 44,290,585 (GRCm38) T454A possibly damaging Het
Prkcg A T 7: 3,330,264 (GRCm38) Y675F probably benign Het
Pwwp2b T A 7: 139,255,150 (GRCm38) I169N probably damaging Het
Rreb1 G A 13: 37,898,497 (GRCm38) R86H possibly damaging Het
Smok3c A C 5: 138,064,633 (GRCm38) L127F probably damaging Het
St6galnac1 T A 11: 116,766,269 (GRCm38) M427L probably benign Het
Synm T C 7: 67,735,974 (GRCm38) T205A probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Vmn2r112 A G 17: 22,618,250 (GRCm38) Y564C probably damaging Het
Vmn2r90 A C 17: 17,712,202 (GRCm38) T124P probably damaging Het
Vpreb1 A T 16: 16,868,690 (GRCm38) V112E probably damaging Het
Zfp451 A G 1: 33,777,528 (GRCm38) L447S probably damaging Het
Zfp746 T C 6: 48,064,173 (GRCm38) T539A probably damaging Het
Other mutations in Jade2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Jade2 APN 11 51,825,338 (GRCm38) missense possibly damaging 0.95
IGL01935:Jade2 APN 11 51,828,384 (GRCm38) missense possibly damaging 0.95
IGL02885:Jade2 APN 11 51,831,296 (GRCm38) missense probably damaging 1.00
IGL02987:Jade2 APN 11 51,830,481 (GRCm38) missense probably damaging 1.00
IGL02990:Jade2 APN 11 51,831,247 (GRCm38) splice site probably benign
IGL03172:Jade2 APN 11 51,825,371 (GRCm38) missense probably damaging 1.00
R0116:Jade2 UTSW 11 51,831,309 (GRCm38) missense probably damaging 1.00
R1917:Jade2 UTSW 11 51,818,538 (GRCm38) missense possibly damaging 0.95
R3410:Jade2 UTSW 11 51,817,223 (GRCm38) missense probably benign
R3886:Jade2 UTSW 11 51,830,499 (GRCm38) missense possibly damaging 0.79
R4846:Jade2 UTSW 11 51,821,148 (GRCm38) missense probably benign
R4916:Jade2 UTSW 11 51,817,082 (GRCm38) missense probably benign 0.01
R5420:Jade2 UTSW 11 51,818,607 (GRCm38) missense probably benign 0.21
R5657:Jade2 UTSW 11 51,816,987 (GRCm38) missense probably damaging 1.00
R6031:Jade2 UTSW 11 51,826,586 (GRCm38) nonsense probably null
R6031:Jade2 UTSW 11 51,826,586 (GRCm38) nonsense probably null
R6116:Jade2 UTSW 11 51,835,633 (GRCm38) missense probably damaging 0.99
R7039:Jade2 UTSW 11 51,828,359 (GRCm38) missense probably damaging 0.97
R7270:Jade2 UTSW 11 51,817,184 (GRCm38) missense possibly damaging 0.89
R7702:Jade2 UTSW 11 51,816,917 (GRCm38) missense probably damaging 1.00
R7797:Jade2 UTSW 11 51,817,299 (GRCm38) missense probably benign 0.00
R8054:Jade2 UTSW 11 51,818,614 (GRCm38) missense probably benign 0.00
R8243:Jade2 UTSW 11 51,817,218 (GRCm38) missense probably benign
R8371:Jade2 UTSW 11 51,825,132 (GRCm38) missense probably benign 0.04
R8984:Jade2 UTSW 11 51,825,079 (GRCm38) missense probably damaging 1.00
R9020:Jade2 UTSW 11 51,817,627 (GRCm38) missense probably benign 0.00
R9135:Jade2 UTSW 11 51,825,124 (GRCm38) missense probably benign
R9143:Jade2 UTSW 11 51,825,103 (GRCm38) missense probably benign 0.00
Z1177:Jade2 UTSW 11 51,848,994 (GRCm38) missense probably null 0.20
Z1177:Jade2 UTSW 11 51,816,990 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TAATGTCCTAGGCCAGCACAG -3'
(R):5'- GAAGGTCAGTCGGAAATCTCC -3'

Sequencing Primer
(F):5'- CGGGGTGGAATTCAGAACTCTCTC -3'
(R):5'- AAATCTCCGGGTGCTAGATCC -3'
Posted On 2016-09-06