Incidental Mutation 'IGL02566:Jmjd4'
ID298825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jmjd4
Ensembl Gene ENSMUSG00000036819
Gene Namejumonji domain containing 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL02566
Quality Score
Status
Chromosome11
Chromosomal Location59450045-59458567 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59455054 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 320 (M320K)
Ref Sequence ENSEMBL: ENSMUSP00000104407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045279] [ENSMUST00000108777] [ENSMUST00000125846] [ENSMUST00000147163]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045279
AA Change: M308K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: M308K

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 34 89 2e-21 BLAST
Blast:JmjC 103 144 1e-18 BLAST
JmjC 147 294 1.56e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108777
AA Change: M320K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: M320K

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 34 89 3e-21 BLAST
JmjC 147 306 1.84e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126158
Predicted Effect probably benign
Transcript: ENSMUST00000147163
SMART Domains Protein: ENSMUSP00000123531
Gene: ENSMUSG00000036819

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 68 152 8e-38 BLAST
Blast:JmjC 152 190 2e-15 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are healthy, fertile and physiologically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik C T 7: 118,752,832 A154V probably benign Het
Arl4d A G 11: 101,667,154 S169G probably damaging Het
Bbx A T 16: 50,223,240 probably benign Het
Blm A T 7: 80,474,196 M959K probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyb5d1 T C 11: 69,393,768 N186S probably benign Het
Elk3 A G 10: 93,265,463 L142P probably damaging Het
Gk5 G A 9: 96,129,046 D70N possibly damaging Het
Gm11492 T G 11: 87,567,642 S281A probably benign Het
Gpr84 T C 15: 103,308,723 D309G probably benign Het
Greb1l T C 18: 10,503,299 V450A probably damaging Het
Gucy1b1 A G 3: 82,058,329 F70S probably damaging Het
Map10 A G 8: 125,671,755 N629S probably benign Het
Nmd3 G T 3: 69,739,914 probably benign Het
Obscn G T 11: 59,068,147 T3359K probably damaging Het
Olfr31 C A 14: 14,328,138 T9K probably benign Het
Pkhd1l1 A G 15: 44,526,054 probably null Het
Plcb1 T C 2: 135,472,263 F1212L probably benign Het
Rabep1 A G 11: 70,917,714 S459G probably damaging Het
Slc26a1 A G 5: 108,673,799 S75P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sult1d1 A T 5: 87,564,811 L58Q probably damaging Het
Tnrc18 A T 5: 142,772,313 probably benign Het
Zfp442 T C 2: 150,409,791 probably null Het
Other mutations in Jmjd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Jmjd4 APN 11 59455314 missense probably damaging 1.00
IGL00434:Jmjd4 APN 11 59450495 missense probably damaging 1.00
IGL00863:Jmjd4 APN 11 59450743 missense probably benign
R0048:Jmjd4 UTSW 11 59453952 missense probably benign
R1678:Jmjd4 UTSW 11 59453612 missense probably damaging 1.00
R2131:Jmjd4 UTSW 11 59454955 missense probably damaging 1.00
R4823:Jmjd4 UTSW 11 59455580 missense probably benign 0.00
R5621:Jmjd4 UTSW 11 59450393 missense probably damaging 0.99
R6053:Jmjd4 UTSW 11 59454044 missense probably damaging 1.00
R6664:Jmjd4 UTSW 11 59450419 missense probably benign 0.22
R7816:Jmjd4 UTSW 11 59450336 missense probably benign 0.31
R8080:Jmjd4 UTSW 11 59450353 missense probably benign
X0018:Jmjd4 UTSW 11 59455054 missense probably damaging 0.99
Z1177:Jmjd4 UTSW 11 59450274 missense probably benign 0.01
Posted On2015-04-16