Incidental Mutation 'IGL02662:Kdm4c'
ID302598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm4c
Ensembl Gene ENSMUSG00000028397
Gene Namelysine (K)-specific demethylase 4C
SynonymsJmjd2c, 2410141F18Rik
Accession Numbers

Genbank: NM_001172095; MGI: 1924054

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02662
Quality Score
Status
Chromosome4
Chromosomal Location74242497-74405860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74404821 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 997 (S997P)
Ref Sequence ENSEMBL: ENSMUSP00000077017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030102] [ENSMUST00000077851]
Predicted Effect probably damaging
Transcript: ENSMUST00000030102
AA Change: S997P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030102
Gene: ENSMUSG00000028397
AA Change: S997P

DomainStartEndE-ValueType
JmjN 15 57 9.12e-14 SMART
JmjC 144 310 1.31e-61 SMART
low complexity region 361 374 N/A INTRINSIC
low complexity region 386 400 N/A INTRINSIC
PHD 687 745 3.3e-5 SMART
PHD 807 863 8.71e-5 SMART
TUDOR 875 932 2.96e-10 SMART
TUDOR 933 989 2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077851
AA Change: S997P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077017
Gene: ENSMUSG00000028397
AA Change: S997P

DomainStartEndE-ValueType
JmjN 15 57 9.12e-14 SMART
JmjC 144 310 1.31e-61 SMART
low complexity region 361 374 N/A INTRINSIC
low complexity region 386 400 N/A INTRINSIC
PHD 687 745 3.3e-5 SMART
PHD 807 863 8.71e-5 SMART
TUDOR 875 932 2.96e-10 SMART
TUDOR 933 989 2e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null gene trap allele cannot be produced likely due to embryonic lethality. Mice heterozygous for a null gene trap allele exhibit reduced body weight and lower incidence and multiplicity of both benign and malignant tumors in mice treated with DMBA and TPA. [provided by MGI curators]
Allele List at MGI

All alleles(402) : Targeted, other(2) Gene trapped(400)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,746,895 probably null Het
Ap5z1 G A 5: 142,476,889 probably null Het
Cdhr5 T G 7: 141,274,503 I120L possibly damaging Het
Chd5 C T 4: 152,372,131 S975F probably damaging Het
Cts3 G T 13: 61,568,057 Q132K probably damaging Het
Cylc2 T A 4: 51,216,698 probably benign Het
Defb39 A G 8: 19,052,875 V68A probably benign Het
Dgki A G 6: 36,862,486 probably benign Het
Dhtkd1 G A 2: 5,899,972 P867L probably damaging Het
Gata5 C T 2: 180,327,751 probably benign Het
Glt28d2 T A 3: 85,872,116 I17F probably damaging Het
Gm11397 A G 13: 33,404,530 N366S possibly damaging Het
Gstm2 T C 3: 107,985,062 Y82C possibly damaging Het
Hs6st1 T A 1: 36,103,812 L276* probably null Het
Iqgap1 T C 7: 80,743,079 D712G probably benign Het
Ksr1 G A 11: 79,036,725 T289I probably damaging Het
Lingo4 T C 3: 94,401,817 probably benign Het
Ncapd2 A G 6: 125,176,731 S674P probably damaging Het
Nek1 G A 8: 61,104,184 V841I probably benign Het
Olfr1104 T C 2: 87,022,002 T181A probably benign Het
Olfr514 T C 7: 108,825,745 T85A probably benign Het
Pigx A G 16: 32,087,383 V40A probably damaging Het
Pla2g2d T G 4: 138,778,695 M5R possibly damaging Het
Ppa2 G T 3: 133,367,883 R234I probably damaging Het
Rbms1 A C 2: 60,762,306 L221R probably damaging Het
Rnasel C A 1: 153,754,111 N124K probably damaging Het
Sigirr T A 7: 141,094,794 probably benign Het
Tas2r136 A T 6: 132,777,708 V152E probably damaging Het
Tlnrd1 A G 7: 83,882,536 L229S probably damaging Het
Tlnrd1 C T 7: 83,882,819 V135M possibly damaging Het
Top1mt A G 15: 75,668,705 V239A probably damaging Het
Tpd52 A T 3: 8,944,715 probably null Het
Trim16 T A 11: 62,840,557 L331Q possibly damaging Het
Ttll4 A G 1: 74,687,231 probably null Het
Vmn1r27 T A 6: 58,215,287 D244V probably damaging Het
Vmn2r72 A C 7: 85,738,183 D724E probably benign Het
Zfp563 T C 17: 33,102,279 W18R probably damaging Het
Zswim8 T C 14: 20,713,074 V347A probably benign Het
Other mutations in Kdm4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Kdm4c APN 4 74345501 missense probably benign 0.19
IGL00225:Kdm4c APN 4 74345567 missense probably benign 0.03
IGL00672:Kdm4c APN 4 74343514 missense probably benign 0.00
IGL00897:Kdm4c APN 4 74373684 missense probably damaging 1.00
IGL01479:Kdm4c APN 4 74343501 missense probably benign 0.18
IGL01707:Kdm4c APN 4 74336927 missense probably damaging 1.00
IGL02142:Kdm4c APN 4 74307016 critical splice donor site probably null
IGL02268:Kdm4c APN 4 74373716 missense possibly damaging 0.94
IGL03377:Kdm4c APN 4 74271255 missense possibly damaging 0.82
3-1:Kdm4c UTSW 4 74334673 missense probably benign 0.00
PIT4434001:Kdm4c UTSW 4 74271332 missense probably benign 0.01
R0096:Kdm4c UTSW 4 74357343 missense probably damaging 1.00
R0096:Kdm4c UTSW 4 74357343 missense probably damaging 1.00
R0219:Kdm4c UTSW 4 74373620 missense probably damaging 1.00
R0309:Kdm4c UTSW 4 74345567 missense probably benign 0.00
R0512:Kdm4c UTSW 4 74333794 missense probably benign
R1070:Kdm4c UTSW 4 74373628 nonsense probably null
R1518:Kdm4c UTSW 4 74333826 missense probably benign
R1713:Kdm4c UTSW 4 74298484 missense probably benign 0.10
R1769:Kdm4c UTSW 4 74280997 missense possibly damaging 0.66
R1927:Kdm4c UTSW 4 74345483 missense probably benign 0.00
R1962:Kdm4c UTSW 4 74307016 intron probably benign
R1992:Kdm4c UTSW 4 74343394 missense possibly damaging 0.71
R2389:Kdm4c UTSW 4 74333870 critical splice donor site probably null
R2979:Kdm4c UTSW 4 74373728 nonsense probably null
R3966:Kdm4c UTSW 4 74298583 missense probably damaging 1.00
R4094:Kdm4c UTSW 4 74311678 missense probably benign
R4171:Kdm4c UTSW 4 74280898 missense possibly damaging 0.73
R4543:Kdm4c UTSW 4 74330760 missense probably benign 0.01
R4581:Kdm4c UTSW 4 74357339 splice site probably null
R5019:Kdm4c UTSW 4 74343535 missense probably damaging 1.00
R5088:Kdm4c UTSW 4 74334699 missense probably benign
R5533:Kdm4c UTSW 4 74315649 intron probably benign
R5663:Kdm4c UTSW 4 74399348 missense probably damaging 1.00
R5691:Kdm4c UTSW 4 74334728 missense probably benign
R5775:Kdm4c UTSW 4 74359431 missense probably damaging 1.00
R5786:Kdm4c UTSW 4 74359485 missense probably damaging 0.98
R6002:Kdm4c UTSW 4 74404969 missense possibly damaging 0.95
R6375:Kdm4c UTSW 4 74330715 missense probably damaging 0.96
R6491:Kdm4c UTSW 4 74373636 missense probably damaging 1.00
R6790:Kdm4c UTSW 4 74391461 missense probably damaging 1.00
R6952:Kdm4c UTSW 4 74357350 missense probably damaging 1.00
R7157:Kdm4c UTSW 4 74345567 missense probably benign 0.01
R7319:Kdm4c UTSW 4 74336963 missense probably damaging 1.00
Posted On2015-04-16