Incidental Mutation 'IGL00334:Jmjd4'
ID11530
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: 0.151) question?
Stock #IGL00334
Quality Score
Status
Chromosome11
Chromosomal Location59450045-59458567 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59455314 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 331 (M331K)
Ref Sequence ENSEMBL: ENSMUSP00000104407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045279] [ENSMUST00000108777] [ENSMUST00000125846] [ENSMUST00000147163]
Predicted Effect probably damaging
Transcript: ENSMUST00000045279
AA Change: M319K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: M319K

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: M331K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: M331K

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Jmjd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Jmjd4 APN 11 59450495 missense probably damaging 1.00
IGL00863:Jmjd4 APN 11 59450743 missense probably benign
IGL02566:Jmjd4 APN 11 59455054 missense probably damaging 0.99
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 On2012-12-06