Incidental Mutation 'IGL02142:Kdm4c'
ID 281642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm4c
Ensembl Gene ENSMUSG00000028397
Gene Name lysine (K)-specific demethylase 4C
Synonyms Jmjd2c, 2410141F18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02142
Quality Score
Status
Chromosome 4
Chromosomal Location 74160734-74324097 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 74225253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030102] [ENSMUST00000077851] [ENSMUST00000149295]
AlphaFold Q8VCD7
Predicted Effect probably null
Transcript: ENSMUST00000030102
SMART Domains Protein: ENSMUSP00000030102
Gene: ENSMUSG00000028397

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 null
Transcript: ENSMUST00000077851
SMART Domains Protein: ENSMUSP00000077017
Gene: ENSMUSG00000028397

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: ENSMUST00000149295
SMART Domains Protein: ENSMUSP00000118728
Gene: ENSMUSG00000028397

DomainStartEndE-ValueType
Pfam:JmjN 17 49 9.4e-14 PFAM
low complexity region 102 115 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156065
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,963,575 (GRCm39) S2060P probably benign Het
Abcg4 A G 9: 44,189,014 (GRCm39) F426S probably benign Het
Actn1 C T 12: 80,222,929 (GRCm39) probably null Het
Adgrd1 T A 5: 129,208,648 (GRCm39) H251Q probably benign Het
Adgrg3 C T 8: 95,766,483 (GRCm39) P385S probably damaging Het
Ampd2 G T 3: 107,987,660 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,155,360 (GRCm39) S86P probably damaging Het
Art5 C T 7: 101,747,123 (GRCm39) E121K probably null Het
Atad5 G A 11: 79,985,023 (GRCm39) E37K probably benign Het
Atp13a5 A G 16: 29,053,315 (GRCm39) V1084A probably benign Het
Cfap44 T C 16: 44,241,507 (GRCm39) I626T probably benign Het
Col16a1 T A 4: 129,945,440 (GRCm39) probably null Het
Defa22 T G 8: 21,653,130 (GRCm39) C81G possibly damaging Het
Dnm2 A G 9: 21,411,649 (GRCm39) Y622C probably damaging Het
Efna5 T A 17: 62,914,340 (GRCm39) L201F unknown Het
Elac1 T C 18: 73,871,991 (GRCm39) R335G probably benign Het
Enpp5 T C 17: 44,396,468 (GRCm39) V460A probably benign Het
Esr2 A G 12: 76,169,969 (GRCm39) V453A probably benign Het
Fam210b T A 2: 172,194,497 (GRCm39) probably benign Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Fcrlb A G 1: 170,736,248 (GRCm39) V176A probably damaging Het
Gabrq T A X: 71,879,783 (GRCm39) V256E possibly damaging Het
Gba1 T C 3: 89,113,148 (GRCm39) L193P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Helq A G 5: 100,930,960 (GRCm39) F597L probably benign Het
Hrh1 A T 6: 114,457,204 (GRCm39) I162L probably damaging Het
Jph1 A T 1: 17,161,884 (GRCm39) F259L probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Kif13a T C 13: 46,925,011 (GRCm39) T308A probably benign Het
Lars1 C T 18: 42,360,345 (GRCm39) V704M probably benign Het
Lcmt2 A G 2: 120,969,394 (GRCm39) L343P possibly damaging Het
Lhfpl1 A G X: 144,123,733 (GRCm39) F125L probably benign Het
Lmbrd2 C A 15: 9,186,772 (GRCm39) D582E probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Macf1 T C 4: 123,365,842 (GRCm39) D1408G probably benign Het
Magi3 T C 3: 103,923,219 (GRCm39) K1166R probably benign Het
Marchf5 T C 19: 37,197,892 (GRCm39) probably benign Het
Ms4a20 G A 19: 11,087,695 (GRCm39) Q79* probably null Het
Naa25 A G 5: 121,564,825 (GRCm39) Q555R possibly damaging Het
Npat A G 9: 53,481,207 (GRCm39) T1005A probably benign Het
Nt5c3 G A 6: 56,863,670 (GRCm39) A108V probably damaging Het
Ocrl T A X: 47,024,995 (GRCm39) M322K probably damaging Het
Odad2 C A 18: 7,214,601 (GRCm39) W733C probably damaging Het
Or8g2 A G 9: 39,821,935 (GRCm39) T279A possibly damaging Het
Psg23 A T 7: 18,344,345 (GRCm39) V370E probably benign Het
Rassf2 A T 2: 131,838,353 (GRCm39) M311K possibly damaging Het
Rhobtb3 A G 13: 76,025,614 (GRCm39) Y501H probably damaging Het
Rpl4 A G 9: 64,083,488 (GRCm39) D179G possibly damaging Het
Scn2a T A 2: 65,546,182 (GRCm39) I915N probably damaging Het
Scn3a T A 2: 65,356,965 (GRCm39) T160S possibly damaging Het
Slx4ip T G 2: 136,909,942 (GRCm39) N242K possibly damaging Het
Spidr T A 16: 15,865,945 (GRCm39) Q288L probably benign Het
Sun1 A T 5: 139,216,918 (GRCm39) H255L possibly damaging Het
Tacc1 C T 8: 25,665,233 (GRCm39) G51S probably damaging Het
Tet2 T A 3: 133,185,900 (GRCm39) N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,101,752 (GRCm39) Y349C probably damaging Het
Tnrc6a T C 7: 122,751,414 (GRCm39) probably benign Het
Trim32 T C 4: 65,532,736 (GRCm39) L431P probably damaging Het
Vmn1r35 A G 6: 66,656,334 (GRCm39) L112S probably damaging Het
Vmn2r100 A C 17: 19,742,583 (GRCm39) H319P probably damaging Het
Wdr20rt A G 12: 65,274,039 (GRCm39) T328A probably benign Het
Zbtb17 T C 4: 141,192,293 (GRCm39) Y413H probably benign Het
Other mutations in Kdm4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Kdm4c APN 4 74,263,738 (GRCm39) missense probably benign 0.19
IGL00225:Kdm4c APN 4 74,263,804 (GRCm39) missense probably benign 0.03
IGL00672:Kdm4c APN 4 74,261,751 (GRCm39) missense probably benign 0.00
IGL00897:Kdm4c APN 4 74,291,921 (GRCm39) missense probably damaging 1.00
IGL01479:Kdm4c APN 4 74,261,738 (GRCm39) missense probably benign 0.18
IGL01707:Kdm4c APN 4 74,255,164 (GRCm39) missense probably damaging 1.00
IGL02268:Kdm4c APN 4 74,291,953 (GRCm39) missense possibly damaging 0.94
IGL02662:Kdm4c APN 4 74,323,058 (GRCm39) missense probably damaging 0.99
IGL03377:Kdm4c APN 4 74,189,492 (GRCm39) missense possibly damaging 0.82
3-1:Kdm4c UTSW 4 74,252,910 (GRCm39) missense probably benign 0.00
BB002:Kdm4c UTSW 4 74,323,058 (GRCm39) missense probably damaging 0.99
BB012:Kdm4c UTSW 4 74,323,058 (GRCm39) missense probably damaging 0.99
PIT4434001:Kdm4c UTSW 4 74,189,569 (GRCm39) missense probably benign 0.01
R0096:Kdm4c UTSW 4 74,275,580 (GRCm39) missense probably damaging 1.00
R0096:Kdm4c UTSW 4 74,275,580 (GRCm39) missense probably damaging 1.00
R0219:Kdm4c UTSW 4 74,291,857 (GRCm39) missense probably damaging 1.00
R0309:Kdm4c UTSW 4 74,263,804 (GRCm39) missense probably benign 0.00
R0512:Kdm4c UTSW 4 74,252,031 (GRCm39) missense probably benign
R1070:Kdm4c UTSW 4 74,291,865 (GRCm39) nonsense probably null
R1518:Kdm4c UTSW 4 74,252,063 (GRCm39) missense probably benign
R1713:Kdm4c UTSW 4 74,216,721 (GRCm39) missense probably benign 0.10
R1769:Kdm4c UTSW 4 74,199,234 (GRCm39) missense possibly damaging 0.66
R1927:Kdm4c UTSW 4 74,263,720 (GRCm39) missense probably benign 0.00
R1962:Kdm4c UTSW 4 74,225,253 (GRCm39) intron probably benign
R1992:Kdm4c UTSW 4 74,261,631 (GRCm39) missense possibly damaging 0.71
R2389:Kdm4c UTSW 4 74,252,107 (GRCm39) critical splice donor site probably null
R2979:Kdm4c UTSW 4 74,291,965 (GRCm39) nonsense probably null
R3966:Kdm4c UTSW 4 74,216,820 (GRCm39) missense probably damaging 1.00
R4094:Kdm4c UTSW 4 74,229,915 (GRCm39) missense probably benign
R4171:Kdm4c UTSW 4 74,199,135 (GRCm39) missense possibly damaging 0.73
R4543:Kdm4c UTSW 4 74,248,997 (GRCm39) missense probably benign 0.01
R4581:Kdm4c UTSW 4 74,275,576 (GRCm39) splice site probably null
R5019:Kdm4c UTSW 4 74,261,772 (GRCm39) missense probably damaging 1.00
R5088:Kdm4c UTSW 4 74,252,936 (GRCm39) missense probably benign
R5533:Kdm4c UTSW 4 74,233,886 (GRCm39) intron probably benign
R5663:Kdm4c UTSW 4 74,317,585 (GRCm39) missense probably damaging 1.00
R5691:Kdm4c UTSW 4 74,252,965 (GRCm39) missense probably benign
R5775:Kdm4c UTSW 4 74,277,668 (GRCm39) missense probably damaging 1.00
R5786:Kdm4c UTSW 4 74,277,722 (GRCm39) missense probably damaging 0.98
R6002:Kdm4c UTSW 4 74,323,206 (GRCm39) missense possibly damaging 0.95
R6375:Kdm4c UTSW 4 74,248,952 (GRCm39) missense probably damaging 0.96
R6491:Kdm4c UTSW 4 74,291,873 (GRCm39) missense probably damaging 1.00
R6790:Kdm4c UTSW 4 74,309,698 (GRCm39) missense probably damaging 1.00
R6952:Kdm4c UTSW 4 74,275,587 (GRCm39) missense probably damaging 1.00
R7157:Kdm4c UTSW 4 74,263,804 (GRCm39) missense probably benign 0.01
R7319:Kdm4c UTSW 4 74,255,200 (GRCm39) missense probably damaging 1.00
R7925:Kdm4c UTSW 4 74,323,058 (GRCm39) missense probably damaging 0.99
R7976:Kdm4c UTSW 4 74,295,906 (GRCm39) missense probably damaging 0.99
R7990:Kdm4c UTSW 4 74,309,685 (GRCm39) missense probably damaging 1.00
R8185:Kdm4c UTSW 4 74,291,821 (GRCm39) missense probably benign 0.01
R9079:Kdm4c UTSW 4 74,277,738 (GRCm39) missense probably benign 0.01
R9486:Kdm4c UTSW 4 74,252,966 (GRCm39) missense probably benign 0.00
R9546:Kdm4c UTSW 4 74,323,104 (GRCm39) missense possibly damaging 0.90
R9547:Kdm4c UTSW 4 74,323,104 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16