Incidental Mutation 'R5776:Jade1'
ID 446682
Institutional Source Beutler Lab
Gene Symbol Jade1
Ensembl Gene ENSMUSG00000025764
Gene Name jade family PHD finger 1
Synonyms Phf17, D530048A03Rik
MMRRC Submission 043375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5776 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 41510169-41571299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41568227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 765 (H765R)
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: H765R

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: H765R

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: H765R

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: H765R

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: H765R

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: H765R

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: H765R

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: H765R

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
Meta Mutation Damage Score 0.0729 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (64/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,107,649 (GRCm39) M378K possibly damaging Het
Abca17 A G 17: 24,514,132 (GRCm39) V857A probably benign Het
Abca9 C T 11: 109,998,286 (GRCm39) probably null Het
Adam22 T C 5: 8,177,361 (GRCm39) K583E probably benign Het
Akr1c13 T C 13: 4,244,186 (GRCm39) F80L probably damaging Het
Apob A T 12: 8,056,149 (GRCm39) I1511F possibly damaging Het
Ccdc168 T C 1: 44,095,665 (GRCm39) E1811G possibly damaging Het
Cfh C A 1: 140,071,761 (GRCm39) R291I possibly damaging Het
Col1a1 C T 11: 94,840,550 (GRCm39) S1114F unknown Het
Ctsj T C 13: 61,150,956 (GRCm39) D168G probably damaging Het
Erf T C 7: 24,945,534 (GRCm39) D79G probably damaging Het
Extl1 T C 4: 134,085,083 (GRCm39) N629S possibly damaging Het
Fbxo9 T C 9: 78,002,469 (GRCm39) E204G probably damaging Het
Fdx2 C A 9: 20,984,778 (GRCm39) V9L possibly damaging Het
Gfer G T 17: 24,915,027 (GRCm39) S5R probably benign Het
Gm15931 A T 7: 4,284,564 (GRCm39) noncoding transcript Het
Gm6309 T A 5: 146,105,691 (GRCm39) I158F possibly damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hacl1 A T 14: 31,344,828 (GRCm39) N234K possibly damaging Het
Hcn3 C T 3: 89,055,412 (GRCm39) A612T probably benign Het
Hectd1 T A 12: 51,810,897 (GRCm39) E1679D possibly damaging Het
Hipk4 T C 7: 27,228,405 (GRCm39) L285P probably damaging Het
Igsf3 G A 3: 101,332,796 (GRCm39) V25I probably benign Het
Kcnv1 T C 15: 44,977,963 (GRCm39) D25G unknown Het
Klhl3 A G 13: 58,152,998 (GRCm39) S586P probably benign Het
L3mbtl2 A G 15: 81,569,072 (GRCm39) D582G probably damaging Het
Matn2 G A 15: 34,431,765 (GRCm39) C835Y probably damaging Het
Naa15 A C 3: 51,367,447 (GRCm39) D490A probably damaging Het
Nab2 T A 10: 127,500,198 (GRCm39) Y298F probably damaging Het
Nipsnap1 T A 11: 4,838,919 (GRCm39) M115K probably benign Het
Nlrp5-ps T C 7: 14,326,649 (GRCm39) noncoding transcript Het
Nol4l T G 2: 153,259,741 (GRCm39) Q211P probably damaging Het
Oga T C 19: 45,760,363 (GRCm39) E265G probably damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Or6k14 A T 1: 173,927,339 (GRCm39) H105L probably damaging Het
Pkhd1 T C 1: 20,279,409 (GRCm39) K2970E possibly damaging Het
Plin4 T C 17: 56,411,983 (GRCm39) T683A probably damaging Het
Ppm1g T C 5: 31,362,454 (GRCm39) D282G probably benign Het
Ppp6r3 A G 19: 3,576,901 (GRCm39) S10P possibly damaging Het
Raph1 G A 1: 60,529,315 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,268,325 (GRCm39) V935A possibly damaging Het
Reg4 T A 3: 98,140,344 (GRCm39) D108E possibly damaging Het
Saraf T A 8: 34,632,604 (GRCm39) Y228N probably damaging Het
Sctr T C 1: 119,984,137 (GRCm39) S357P probably damaging Het
Sec22b A T 3: 97,821,884 (GRCm39) N139Y probably damaging Het
Sgsm1 T A 5: 113,398,823 (GRCm39) I1037F probably damaging Het
Skint5 A C 4: 113,620,700 (GRCm39) S671R unknown Het
Slc38a3 C A 9: 107,535,948 (GRCm39) E62* probably null Het
Slfn14 C T 11: 83,174,425 (GRCm39) E189K probably damaging Het
Sox21 A G 14: 118,472,656 (GRCm39) L131P probably damaging Het
Stip1 A G 19: 6,999,393 (GRCm39) probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Susd1 T C 4: 59,315,363 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,005,689 (GRCm39) D498E probably benign Het
Tln2 C T 9: 67,165,532 (GRCm39) E1053K probably damaging Het
Trav6-4 A G 14: 53,692,211 (GRCm39) D103G probably damaging Het
Txndc15 A G 13: 55,865,920 (GRCm39) E128G probably benign Het
Vmn2r22 A T 6: 123,614,673 (GRCm39) W306R probably damaging Het
Yjefn3 A T 8: 70,342,121 (GRCm39) L33Q probably damaging Het
Zfp641 T C 15: 98,186,891 (GRCm39) D244G probably damaging 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
R2962:Jade1 UTSW 3 41,567,762 (GRCm39) missense probably benign
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
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'- CTGGACAACACAAGAGCTGC -3'
(R):5'- AAGATGCTTCGCCTGATGATATC -3'

Sequencing Primer
(F):5'- CCTGGAGTAGGGCAGTCAG -3'
(R):5'- GATGATATCTGTCCTCCTGCTGATG -3'
Posted On 2016-12-15