Incidental Mutation 'IGL03080:Jade1'
ID 417833
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03080
Quality Score
Status
Chromosome 3
Chromosomal Location 41510169-41571299 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 41554510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 251 (C251*)
Ref Sequence ENSEMBL: ENSMUSP00000141499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026865] [ENSMUST00000163764] [ENSMUST00000168086] [ENSMUST00000170711] [ENSMUST00000191952] [ENSMUST00000195846]
AlphaFold Q6ZPI0
Predicted Effect probably null
Transcript: ENSMUST00000026865
AA Change: C251*
SMART Domains Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: C251*

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 null
Transcript: ENSMUST00000163764
AA Change: C251*
SMART Domains Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: C251*

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 null
Transcript: ENSMUST00000168086
AA Change: C251*
SMART Domains Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: C251*

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 null
Transcript: ENSMUST00000170711
AA Change: C251*
SMART Domains Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: C251*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191921
Predicted Effect probably null
Transcript: ENSMUST00000191952
AA Change: C251*
SMART Domains Protein: ENSMUSP00000141499
Gene: ENSMUSG00000025764
AA Change: C251*

DomainStartEndE-ValueType
Pfam:EPL1 30 182 2.3e-23 PFAM
PHD 206 252 1.91e-10 SMART
PHD 315 370 1.31e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195322
Predicted Effect probably benign
Transcript: ENSMUST00000192451
Predicted Effect probably benign
Transcript: ENSMUST00000195846
SMART Domains Protein: ENSMUSP00000141711
Gene: ENSMUSG00000025764

DomainStartEndE-ValueType
Pfam:EPL1 29 152 6e-12 PFAM
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 T C 8: 80,429,630 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,827 (GRCm39) M734V probably benign Het
Aqp8 T G 7: 123,065,802 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 A G 6: 106,632,500 (GRCm39) D508G probably damaging Het
Cyp11b1 A T 15: 74,711,285 (GRCm39) probably null Het
Dnah8 A G 17: 30,937,980 (GRCm39) D1619G probably benign Het
Eif1ad17 A T 12: 87,978,615 (GRCm39) probably benign Het
Ephb4 T A 5: 137,352,345 (GRCm39) probably benign Het
Ffar3 A T 7: 30,554,747 (GRCm39) V191E probably damaging Het
Galnt1 T A 18: 24,402,574 (GRCm39) D310E probably damaging Het
Igf2r T C 17: 12,945,563 (GRCm39) Y342C probably benign Het
Jhy T C 9: 40,855,653 (GRCm39) E278G probably damaging Het
Kif24 A C 4: 41,394,417 (GRCm39) S819A probably benign Het
Lrp8 T C 4: 107,712,996 (GRCm39) L344P probably damaging Het
Lrrc27 A G 7: 138,810,153 (GRCm39) T375A probably benign Het
Mbd3 C T 10: 80,229,085 (GRCm39) R204Q probably damaging Het
Nab2 T C 10: 127,500,663 (GRCm39) N143S possibly damaging Het
Nkiras2 T C 11: 100,515,105 (GRCm39) probably null Het
Or7e174 A T 9: 20,012,705 (GRCm39) I217F probably damaging Het
Palm C A 10: 79,654,951 (GRCm39) H74Q probably damaging Het
Pros1 T A 16: 62,738,506 (GRCm39) N408K probably damaging Het
Psg23 T A 7: 18,340,910 (GRCm39) Y448F probably damaging Het
Ranbp2 C A 10: 58,312,613 (GRCm39) P1111Q probably benign Het
Rims2 A G 15: 39,399,299 (GRCm39) S1115G probably damaging Het
Scn7a T C 2: 66,528,160 (GRCm39) T777A probably benign Het
Spata31h1 T C 10: 82,119,816 (GRCm39) D428G probably damaging Het
Stard3nl A T 13: 19,554,648 (GRCm39) probably null Het
Sult1d1 T C 5: 87,704,847 (GRCm39) D214G probably benign Het
Tmprss12 T C 15: 100,190,529 (GRCm39) W300R probably damaging Het
Tmprss2 T C 16: 97,398,044 (GRCm39) Y44C probably damaging Het
Ttk A G 9: 83,725,136 (GRCm39) N154D probably damaging Het
Tut4 T A 4: 108,363,021 (GRCm39) S444R probably damaging Het
Tyw1 T C 5: 130,295,896 (GRCm39) Y108H probably damaging Het
Vmn2r44 C A 7: 8,386,244 (GRCm39) probably benign Het
Zfand1 A G 3: 10,405,797 (GRCm39) *269Q probably null Het
Zfp142 A T 1: 74,610,368 (GRCm39) D1039E probably benign Het
Zkscan5 G T 5: 145,155,460 (GRCm39) S377I 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
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
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
Posted On 2016-08-02