Incidental Mutation 'IGL00863:Jmjd4'
ID11528
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: 0.107) question?
Stock #IGL00863
Quality Score
Status
Chromosome11
Chromosomal Location59450045-59458567 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59450743 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 113 (S113P)
Ref Sequence ENSEMBL: ENSMUSP00000123531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000045279] [ENSMUST00000108777] [ENSMUST00000120940] [ENSMUST00000125846] [ENSMUST00000132969] [ENSMUST00000136436] [ENSMUST00000145550] [ENSMUST00000147163] [ENSMUST00000150297] [ENSMUST00000156146]
Predicted Effect probably benign
Transcript: ENSMUST00000010038
SMART Domains Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
low complexity region 335 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045279
AA Change: S113P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: S113P

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 benign
Transcript: ENSMUST00000108777
AA Change: S113P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: S113P

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: ENSMUST00000120940
SMART Domains Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126158
Predicted Effect probably benign
Transcript: ENSMUST00000132969
SMART Domains Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136436
SMART Domains Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145550
Predicted Effect probably benign
Transcript: ENSMUST00000147163
AA Change: S113P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123531
Gene: ENSMUSG00000036819
AA Change: S113P

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 68 152 8e-38 BLAST
Blast:JmjC 152 190 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000150297
Predicted Effect probably benign
Transcript: ENSMUST00000156146
SMART Domains Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign 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
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
X0018:Jmjd4 UTSW 11 59455054 missense probably damaging 0.99
Posted On2012-12-06