Incidental Mutation 'IGL01564:Jade1'
ID90930
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 #IGL01564
Quality Score
Status
Chromosome3
Chromosomal Location41555731-41616864 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 41596649 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 174 (R174S)
Ref Sequence ENSEMBL: ENSMUSP00000141499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026865] [ENSMUST00000163764] [ENSMUST00000168086] [ENSMUST00000170711] [ENSMUST00000191952] [ENSMUST00000194181] [ENSMUST00000195846]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026865
AA Change: R174S

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: R174S

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 possibly damaging
Transcript: ENSMUST00000163764
AA Change: R174S

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: R174S

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 possibly damaging
Transcript: ENSMUST00000168086
AA Change: R174S

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: R174S

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 possibly damaging
Transcript: ENSMUST00000170711
AA Change: R174S

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: R174S

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 possibly damaging
Transcript: ENSMUST00000191952
AA Change: R174S

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141499
Gene: ENSMUSG00000025764
AA Change: R174S

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 probably benign
Transcript: ENSMUST00000192451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193080
Predicted Effect probably benign
Transcript: ENSMUST00000194181
SMART Domains Protein: ENSMUSP00000141670
Gene: ENSMUSG00000025764

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194348
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T A 10: 80,606,859 M177K probably damaging Het
Ankrd28 G T 14: 31,755,767 T48K probably damaging Het
BC005561 A T 5: 104,520,663 Y1017F probably benign Het
Capn3 T C 2: 120,480,708 I112T probably damaging Het
Clec3a T A 8: 114,425,542 I96N probably damaging Het
Clic4 C T 4: 135,217,193 A224T probably damaging Het
Eif2b3 T C 4: 117,028,542 Y94H probably benign Het
Ep300 A T 15: 81,632,464 probably benign Het
Errfi1 C A 4: 150,867,030 T305N probably damaging Het
Fam131c T A 4: 141,379,673 probably null Het
Fbxo11 G A 17: 88,002,896 T494I probably benign Het
Homer2 T C 7: 81,618,572 probably null Het
Hpf1 C A 8: 60,890,479 probably benign Het
Hspa1b T C 17: 34,957,549 N487D probably benign Het
Ikbke C A 1: 131,257,921 A617S probably benign Het
Lcmt1 T C 7: 123,404,440 F139S probably benign Het
Lipo2 T C 19: 33,721,024 T318A probably benign Het
Lrp1b C T 2: 40,677,486 probably benign Het
Lsm14a T C 7: 34,389,355 probably benign Het
Mpp2 T C 11: 102,061,519 D393G probably benign Het
Nfyb T C 10: 82,752,426 Y137C probably damaging Het
Olfr1161 A T 2: 88,025,304 H194L probably benign Het
Olfr1510 T C 14: 52,410,842 D10G probably benign Het
Olfr476 T C 7: 107,967,991 I198T probably benign Het
Scn3a A C 2: 65,461,446 I1652S probably damaging Het
Slc33a1 C T 3: 63,943,347 V519I probably benign Het
Strada G T 11: 106,173,292 N66K probably damaging Het
Tlr1 T A 5: 64,925,846 I463F probably damaging Het
Tnfrsf19 G T 14: 60,974,609 F197L possibly damaging Het
Tph1 T A 7: 46,650,881 probably benign Het
Ttn A T 2: 76,816,578 L3287H probably damaging Het
Vmn2r18 A T 5: 151,585,168 S164T possibly damaging Het
Zan C T 5: 137,446,733 V1755I unknown Het
Zmym4 T C 4: 126,911,280 I396V possibly damaging Het
Other mutations in Jade1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Jade1 APN 3 41613502 missense probably benign 0.01
IGL02428:Jade1 APN 3 41613939 missense probably benign 0.03
IGL03080:Jade1 APN 3 41600075 nonsense probably null
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
R7951:Jade1 UTSW 3 41591755 missense probably damaging 0.99
R8006:Jade1 UTSW 3 41613689 missense probably benign
R8175:Jade1 UTSW 3 41613288 missense probably benign 0.27
R8382:Jade1 UTSW 3 41564934 splice site probably null
R8493:Jade1 UTSW 3 41604678 missense possibly damaging 0.60
X0026:Jade1 UTSW 3 41613413 missense probably benign 0.01
Posted On2013-12-09