Incidental Mutation 'IGL03080:Jade1'
ID417833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jade1
Ensembl Gene ENSMUSG00000025764
Gene Namejade family PHD finger 1
SynonymsD530048A03Rik, Phf17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03080
Quality Score
Status
Chromosome3
Chromosomal Location41555731-41616864 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 41600075 bp
ZygosityHeterozygous
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]
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 probably benign
Transcript: ENSMUST00000192451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195322
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
4932415D10Rik T C 10: 82,283,982 D428G probably damaging Het
Abce1 T C 8: 79,703,001 probably null Het
Adgrf3 T C 5: 30,196,829 M734V probably benign Het
Aqp8 T G 7: 123,466,579 probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 A G 6: 106,655,539 D508G probably damaging Het
Cyp11b1 A T 15: 74,839,436 probably null Het
Dnah8 A G 17: 30,719,006 D1619G probably benign Het
Ephb4 T A 5: 137,354,083 probably benign Het
Ffar3 A T 7: 30,855,322 V191E probably damaging Het
Galnt1 T A 18: 24,269,517 D310E probably damaging Het
Gm2075 A T 12: 88,011,845 probably benign Het
Igf2r T C 17: 12,726,676 Y342C probably benign Het
Jhy T C 9: 40,944,357 E278G probably damaging Het
Kif24 A C 4: 41,394,417 S819A probably benign Het
Lrp8 T C 4: 107,855,799 L344P probably damaging Het
Lrrc27 A G 7: 139,230,237 T375A probably benign Het
Mbd3 C T 10: 80,393,251 R204Q probably damaging Het
Nab2 T C 10: 127,664,794 N143S possibly damaging Het
Nkiras2 T C 11: 100,624,279 probably null Het
Olfr868 A T 9: 20,101,409 I217F probably damaging Het
Palm C A 10: 79,819,117 H74Q probably damaging Het
Pros1 T A 16: 62,918,143 N408K probably damaging Het
Psg23 T A 7: 18,606,985 Y448F probably damaging Het
Ranbp2 C A 10: 58,476,791 P1111Q probably benign Het
Rims2 A G 15: 39,535,903 S1115G probably damaging Het
Scn7a T C 2: 66,697,816 T777A probably benign Het
Stard3nl A T 13: 19,370,478 probably null Het
Sult1d1 T C 5: 87,556,988 D214G probably benign Het
Tmprss12 T C 15: 100,292,648 W300R probably damaging Het
Tmprss2 T C 16: 97,596,844 Y44C probably damaging Het
Ttk A G 9: 83,843,083 N154D probably damaging Het
Tyw1 T C 5: 130,267,055 Y108H probably damaging Het
Vmn2r44 C A 7: 8,383,245 probably benign Het
Zcchc11 T A 4: 108,505,824 S444R probably damaging Het
Zfand1 A G 3: 10,340,737 *269Q probably null Het
Zfp142 A T 1: 74,571,209 D1039E probably benign Het
Zkscan5 G T 5: 145,218,650 S377I probably damaging Het
Other mutations in Jade1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Jade1 APN 3 41613502 missense probably benign 0.01
IGL01564:Jade1 APN 3 41596649 missense possibly damaging 0.91
IGL02428:Jade1 APN 3 41613939 missense probably benign 0.03
R0763:Jade1 UTSW 3 41613783 missense possibly damaging 0.93
R1539:Jade1 UTSW 3 41604996 missense probably benign 0.00
R1576:Jade1 UTSW 3 41591807 missense probably damaging 1.00
R1826:Jade1 UTSW 3 41613213 missense probably damaging 1.00
R2143:Jade1 UTSW 3 41604708 missense probably benign
R2255:Jade1 UTSW 3 41591750 missense probably damaging 1.00
R2843:Jade1 UTSW 3 41604845 missense probably damaging 0.98
R2962:Jade1 UTSW 3 41613327 missense probably benign
R3963:Jade1 UTSW 3 41601410 missense probably damaging 0.98
R4753:Jade1 UTSW 3 41596671 nonsense probably null
R4971:Jade1 UTSW 3 41601401 missense probably damaging 1.00
R5278:Jade1 UTSW 3 41589009 missense possibly damaging 0.84
R5327:Jade1 UTSW 3 41613978 missense possibly damaging 0.60
R5384:Jade1 UTSW 3 41591702 missense probably damaging 1.00
R5385:Jade1 UTSW 3 41591702 missense probably damaging 1.00
R5531:Jade1 UTSW 3 41613511 missense probably benign 0.27
R5566:Jade1 UTSW 3 41604903 missense possibly damaging 0.77
R5776:Jade1 UTSW 3 41613792 missense probably benign 0.27
R6299:Jade1 UTSW 3 41613725 missense probably damaging 1.00
R6520:Jade1 UTSW 3 41604482 missense possibly damaging 0.46
R7481:Jade1 UTSW 3 41604690 missense probably benign
X0026:Jade1 UTSW 3 41613413 missense probably benign 0.01
Posted On2016-08-02