Incidental Mutation 'IGL00093:Kdm4c'
ID1728
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 #IGL00093
Quality Score
Status
Chromosome4
Chromosomal Location74242497-74405860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74345501 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 674 (V674A)
Ref Sequence ENSEMBL: ENSMUSP00000077017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030102] [ENSMUST00000077851]
Predicted Effect probably benign
Transcript: ENSMUST00000030102
AA Change: V674A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030102
Gene: ENSMUSG00000028397
AA Change: V674A

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 benign
Transcript: ENSMUST00000077851
AA Change: V674A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077017
Gene: ENSMUSG00000028397
AA Change: V674A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,653,560 D60G probably damaging Het
9230110C19Rik A G 9: 8,022,432 V263A probably benign Het
Abca2 T A 2: 25,445,963 probably null Het
Adamts14 C T 10: 61,229,676 R348H probably damaging Het
Aimp2 A T 5: 143,906,706 I22N probably damaging Het
Cacna1c A G 6: 118,676,444 probably benign Het
Cfap221 A T 1: 119,932,845 Y684N possibly damaging Het
Cldn6 T A 17: 23,681,724 probably benign Het
Copb2 A G 9: 98,568,077 M30V probably benign Het
Cyhr1 A G 15: 76,646,538 I194T probably damaging Het
Dcaf17 G A 2: 71,078,159 E243K probably benign Het
Dhx35 T C 2: 158,827,916 Y257H probably damaging Het
Dzank1 A T 2: 144,481,725 Y600* probably null Het
Fam208a T G 14: 27,448,206 L364R probably damaging Het
Flvcr1 T A 1: 191,015,489 R201* probably null Het
Fstl4 G A 11: 53,186,275 V620I probably benign Het
Gm21976 G A 13: 98,302,561 V20M probably benign Het
Ifi208 T C 1: 173,679,038 probably null Het
Lig1 T A 7: 13,301,452 Y612* probably null Het
Marco A G 1: 120,485,703 V295A probably benign Het
Myo5c T C 9: 75,242,880 probably benign Het
Olfr394 A G 11: 73,888,249 L41P probably damaging Het
Olfr643 T C 7: 104,059,416 Y62C probably damaging Het
Olfr815 T A 10: 129,902,659 D17V possibly damaging Het
Pkd1l1 A G 11: 8,961,971 M245T unknown Het
Pomt1 A G 2: 32,241,772 I158V probably benign Het
Ptpn21 A G 12: 98,680,468 W967R probably damaging Het
Rrp12 A T 19: 41,887,094 M270K possibly damaging Het
Spats2 A G 15: 99,180,593 E179G possibly damaging Het
Tapbp T C 17: 33,919,892 V11A probably benign Het
Tonsl A G 15: 76,638,496 F185S possibly damaging Het
Trpm1 A G 7: 64,243,450 I901V probably damaging Het
Tulp2 A G 7: 45,521,908 N371S probably damaging Het
Unc5d A T 8: 28,719,826 V433D probably damaging Het
Wasf3 G A 5: 146,455,651 R177Q probably damaging Het
Wdr63 C T 3: 146,083,004 G274E probably benign Het
Zfp715 A T 7: 43,299,749 H262Q possibly damaging Het
Other mutations in Kdm4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02662:Kdm4c APN 4 74404821 missense probably damaging 0.99
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 On2011-07-12