Incidental Mutation 'R2962:Jade1'
ID 255917
Institutional Source Beutler Lab
Gene Symbol Jade1
Ensembl Gene ENSMUSG00000025764
Gene Name jade family PHD finger 1
Synonyms Phf17, D530048A03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2962 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 41510169-41571299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 41567762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 610 (T610S)
Ref Sequence ENSEMBL: ENSMUSP00000127113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026865] [ENSMUST00000163764] [ENSMUST00000168086] [ENSMUST00000170711]
AlphaFold Q6ZPI0
Predicted Effect probably benign
Transcript: ENSMUST00000026865
AA Change: T610S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: T610S

DomainStartEndE-ValueType
Pfam:EPL1 31 182 5.3e-23 PFAM
PHD 206 252 1.91e-10 SMART
PHD 315 370 1.31e-8 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 817 831 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163764
AA Change: T610S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: T610S

DomainStartEndE-ValueType
Pfam:EPL1 31 182 5.3e-23 PFAM
PHD 206 252 1.91e-10 SMART
PHD 315 370 1.31e-8 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 817 831 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168086
AA Change: T610S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: T610S

DomainStartEndE-ValueType
Pfam:EPL1 31 182 5.3e-23 PFAM
PHD 206 252 1.91e-10 SMART
PHD 315 370 1.31e-8 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 817 831 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170711
AA Change: T610S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: T610S

DomainStartEndE-ValueType
Pfam:EPL1 5 182 1.5e-9 PFAM
PHD 206 252 1.91e-10 SMART
PHD 315 370 1.31e-8 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 817 831 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Though mice homozygous for mutations of this locus show no overt phenotype at birth, fewer survive to weaning than expected by Mendelian ratios. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd24a A G 10: 43,455,313 (GRCm39) T22A probably benign Het
Cdk5rap2 ATGTG ATG 4: 70,208,214 (GRCm39) probably null Het
Cog3 A G 14: 75,977,974 (GRCm39) probably null Het
Gm3371 A T 14: 44,646,155 (GRCm39) N103K probably benign Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hoxc10 A G 15: 102,875,735 (GRCm39) Y148C probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl7 T C 5: 113,385,922 (GRCm39) V123A possibly damaging Het
Malt1 A G 18: 65,581,406 (GRCm39) H278R probably benign Het
Mlxip C A 5: 123,578,887 (GRCm39) R178S probably damaging Het
Or13a25 A T 7: 140,247,862 (GRCm39) M214L probably benign Het
Pdxk A G 10: 78,279,667 (GRCm39) L236P probably damaging Het
Plekhg3 G A 12: 76,619,433 (GRCm39) probably null Het
Rufy2 G T 10: 62,836,039 (GRCm39) V323F probably damaging Het
Serpinb7 A G 1: 107,379,456 (GRCm39) T288A probably benign Het
Tet1 A T 10: 62,650,323 (GRCm39) C1628* probably null Het
Tgtp2 A G 11: 48,950,363 (GRCm39) S70P probably damaging Het
Trank1 C T 9: 111,181,148 (GRCm39) T390I probably damaging Het
Trim31 T C 17: 37,210,796 (GRCm39) S143P probably damaging Het
Ube3c C A 5: 29,863,416 (GRCm39) A897D possibly damaging Het
Unc79 A T 12: 103,061,378 (GRCm39) T1050S possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Jade1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Jade1 APN 3 41,567,937 (GRCm39) missense probably benign 0.01
IGL01564:Jade1 APN 3 41,551,084 (GRCm39) missense possibly damaging 0.91
IGL02428:Jade1 APN 3 41,568,374 (GRCm39) missense probably benign 0.03
IGL03080:Jade1 APN 3 41,554,510 (GRCm39) nonsense probably null
R0763:Jade1 UTSW 3 41,568,218 (GRCm39) missense possibly damaging 0.93
R1539:Jade1 UTSW 3 41,559,431 (GRCm39) missense probably benign 0.00
R1576:Jade1 UTSW 3 41,546,242 (GRCm39) missense probably damaging 1.00
R1826:Jade1 UTSW 3 41,567,648 (GRCm39) missense probably damaging 1.00
R2143:Jade1 UTSW 3 41,559,143 (GRCm39) missense probably benign
R2255:Jade1 UTSW 3 41,546,185 (GRCm39) missense probably damaging 1.00
R2843:Jade1 UTSW 3 41,559,280 (GRCm39) missense probably damaging 0.98
R3963:Jade1 UTSW 3 41,555,845 (GRCm39) missense probably damaging 0.98
R4753:Jade1 UTSW 3 41,551,106 (GRCm39) nonsense probably null
R4971:Jade1 UTSW 3 41,555,836 (GRCm39) missense probably damaging 1.00
R5278:Jade1 UTSW 3 41,543,444 (GRCm39) missense possibly damaging 0.84
R5327:Jade1 UTSW 3 41,568,413 (GRCm39) missense possibly damaging 0.60
R5384:Jade1 UTSW 3 41,546,137 (GRCm39) missense probably damaging 1.00
R5385:Jade1 UTSW 3 41,546,137 (GRCm39) missense probably damaging 1.00
R5531:Jade1 UTSW 3 41,567,946 (GRCm39) missense probably benign 0.27
R5566:Jade1 UTSW 3 41,559,338 (GRCm39) missense possibly damaging 0.77
R5776:Jade1 UTSW 3 41,568,227 (GRCm39) missense probably benign 0.27
R6299:Jade1 UTSW 3 41,568,160 (GRCm39) missense probably damaging 1.00
R6520:Jade1 UTSW 3 41,558,917 (GRCm39) missense possibly damaging 0.46
R7481:Jade1 UTSW 3 41,559,125 (GRCm39) missense probably benign
R7951:Jade1 UTSW 3 41,546,190 (GRCm39) missense probably damaging 0.99
R8006:Jade1 UTSW 3 41,568,124 (GRCm39) missense probably benign
R8175:Jade1 UTSW 3 41,567,723 (GRCm39) missense probably benign 0.27
R8382:Jade1 UTSW 3 41,519,369 (GRCm39) splice site probably null
R8493:Jade1 UTSW 3 41,559,113 (GRCm39) missense possibly damaging 0.60
R8985:Jade1 UTSW 3 41,568,148 (GRCm39) missense probably benign 0.05
R9018:Jade1 UTSW 3 41,564,292 (GRCm39) missense probably benign 0.09
R9679:Jade1 UTSW 3 41,567,569 (GRCm39) missense probably damaging 0.98
X0026:Jade1 UTSW 3 41,567,848 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAACAAAGTGCTGCTGCTG -3'
(R):5'- AGATGCCTCTGGGATGTGTC -3'

Sequencing Primer
(F):5'- TCCGCACTGGAGAACATGC -3'
(R):5'- AGGCTTGTGACTCTGCTTAAAAG -3'
Posted On 2014-12-29