Incidental Mutation 'R7319:Kdm4c'
ID 568040
Institutional Source Beutler Lab
Gene Symbol Kdm4c
Ensembl Gene ENSMUSG00000028397
Gene Name lysine (K)-specific demethylase 4C
Synonyms Jmjd2c, 2410141F18Rik
MMRRC Submission 045415-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7319 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 74160734-74324097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74255200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 585 (V585M)
Ref Sequence ENSEMBL: ENSMUSP00000030102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030102] [ENSMUST00000077851] [ENSMUST00000149295]
AlphaFold Q8VCD7
Predicted Effect probably damaging
Transcript: ENSMUST00000030102
AA Change: V585M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030102
Gene: ENSMUSG00000028397
AA Change: V585M

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: V585M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077017
Gene: ENSMUSG00000028397
AA Change: V585M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (79/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,393,635 (GRCm39) I287N probably benign Het
Aco2 G T 15: 81,787,820 (GRCm39) E223D probably damaging Het
Acsf3 T A 8: 123,539,770 (GRCm39) I466N probably damaging Het
Albfm1 G A 5: 90,719,625 (GRCm39) probably null Het
Aox3 T A 1: 58,191,761 (GRCm39) F438I probably benign Het
Arhgap33 T C 7: 30,225,794 (GRCm39) T591A probably benign Het
Ash1l C T 3: 88,888,694 (GRCm39) A191V probably benign Het
Btg2 T C 1: 134,006,779 (GRCm39) K5E probably benign Het
C1galt1 T A 6: 7,871,150 (GRCm39) Y329N probably damaging Het
Cacna1h A G 17: 25,608,435 (GRCm39) I824T possibly damaging Het
Carmil3 A G 14: 55,731,817 (GRCm39) I182V probably benign Het
Ccdc150 T A 1: 54,302,496 (GRCm39) probably null Het
Chek1 T A 9: 36,633,939 (GRCm39) R129W probably damaging Het
Chrna6 A G 8: 27,896,815 (GRCm39) M354T possibly damaging Het
Cpq A G 15: 33,250,185 (GRCm39) T181A probably benign Het
Csmd2 A T 4: 128,287,472 (GRCm39) Y1069F Het
Defb28 T A 2: 152,361,974 (GRCm39) C45S possibly damaging Het
Dnah1 A G 14: 31,018,551 (GRCm39) Y1360H probably benign Het
Dnah7c T C 1: 46,823,608 (GRCm39) V3749A possibly damaging Het
Dnah7c T A 1: 46,819,935 (GRCm39) D3728E probably benign Het
Dym G A 18: 75,196,245 (GRCm39) probably null Het
Dync2i2 G A 2: 29,928,341 (GRCm39) P95L probably benign Het
Dzip3 A G 16: 48,747,903 (GRCm39) probably null Het
Eef1akmt4 A G 16: 20,436,666 (GRCm39) K163E probably benign Het
Fbrs A G 7: 127,081,985 (GRCm39) T242A possibly damaging Het
Fgfr3 G A 5: 33,885,146 (GRCm39) V87M possibly damaging Het
Fst A T 13: 114,595,068 (GRCm39) C19S probably benign Het
Gm7276 G A 18: 77,273,216 (GRCm39) R173W unknown Het
Gm9195 G A 14: 72,697,929 (GRCm39) H1284Y probably benign Het
Herc6 C A 6: 57,581,074 (GRCm39) T258K probably damaging Het
Hip1r A G 5: 124,137,174 (GRCm39) Y678C probably damaging Het
Ifne A T 4: 88,798,243 (GRCm39) N58K probably damaging Het
Ighv1-26 A T 12: 114,752,163 (GRCm39) H60Q possibly damaging Het
Ints1 A G 5: 139,746,520 (GRCm39) F1276L probably damaging Het
Itprid2 A T 2: 79,466,416 (GRCm39) D82V probably damaging Het
Kcnc4 T A 3: 107,366,100 (GRCm39) E36V probably benign Het
Kcnq2 C T 2: 180,750,895 (GRCm39) G315S probably damaging Het
Klhl26 C T 8: 70,905,592 (GRCm39) R106H probably damaging Het
Kmo T C 1: 175,481,221 (GRCm39) F313S probably damaging Het
Lmtk3 T A 7: 45,443,740 (GRCm39) S808T unknown Het
Lrch3 A G 16: 32,815,363 (GRCm39) T585A probably benign Het
Lrch4 T A 5: 137,637,977 (GRCm39) H86Q Het
Map3k20 A G 2: 72,195,062 (GRCm39) D113G probably damaging Het
Mbd3l1 T C 9: 18,396,417 (GRCm39) S181P probably benign Het
Mccc2 T C 13: 100,104,241 (GRCm39) T303A probably benign Het
Med27 A G 2: 29,303,490 (GRCm39) R147G possibly damaging Het
Mrps5 T A 2: 127,437,762 (GRCm39) S196R possibly damaging Het
Muc21 GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG GGGGTGGG 17: 35,932,935 (GRCm39) probably benign Het
Myo16 A T 8: 10,526,185 (GRCm39) probably null Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Pcdha11 C T 18: 37,146,245 (GRCm39) P779S probably benign Het
Phykpl A G 11: 51,489,530 (GRCm39) T379A probably benign Het
Plekha8 A C 6: 54,601,206 (GRCm39) M270L probably benign Het
Plekhg5 A G 4: 152,192,885 (GRCm39) H593R probably benign Het
Polr2a T C 11: 69,637,196 (GRCm39) N293S possibly damaging Het
Pramel32 G A 4: 88,548,184 (GRCm39) P74S probably benign Het
Prex2 T A 1: 11,232,532 (GRCm39) N866K probably benign Het
Psme4 A T 11: 30,757,790 (GRCm39) I308L probably benign Het
Ptprb T C 10: 116,177,309 (GRCm39) V1003A probably benign Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Rnaset2b A T 17: 7,259,166 (GRCm39) D144V probably benign Het
Senp6 T G 9: 80,033,481 (GRCm39) D662E probably damaging Het
Serpinb3c T C 1: 107,200,817 (GRCm39) N200S possibly damaging Het
Serpinb9g C G 13: 33,672,543 (GRCm39) Y113* probably null Het
Sgf29 T C 7: 126,270,821 (GRCm39) I134T probably benign Het
Sh3bp4 T G 1: 89,080,824 (GRCm39) probably null Het
Stab1 G A 14: 30,862,783 (GRCm39) L2243F probably damaging Het
Sympk T C 7: 18,769,770 (GRCm39) V149A probably benign Het
Syt3 C T 7: 44,041,953 (GRCm39) Q271* probably null Het
Tas2r109 A G 6: 132,957,663 (GRCm39) I89T probably benign Het
Tgif1 A G 17: 71,151,847 (GRCm39) S255P probably damaging Het
Tm9sf1 G A 14: 55,875,432 (GRCm39) probably benign Het
Tnf A G 17: 35,419,347 (GRCm39) F161S possibly damaging Het
Topaz1 T A 9: 122,579,428 (GRCm39) S779R possibly damaging Het
Topors A G 4: 40,260,540 (GRCm39) S915P unknown Het
Tpm4 C T 8: 72,900,321 (GRCm39) L161F probably damaging Het
Trim38 C T 13: 23,975,384 (GRCm39) T441I probably damaging Het
Trpv1 A G 11: 73,141,620 (GRCm39) M548V probably benign Het
Vmn2r68 T A 7: 84,883,042 (GRCm39) T237S probably benign Het
Zc3hav1 A G 6: 38,309,209 (GRCm39) S538P probably benign Het
Zfp541 C T 7: 15,813,294 (GRCm39) T649I 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
IGL02142:Kdm4c APN 4 74,225,253 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CCTGCATATATACAGGCATAGACC -3'
(R):5'- TGTCAGGAATGACTTACTTATGGCATG -3'

Sequencing Primer
(F):5'- TATATACAGGCATAGACCAAACAAAG -3'
(R):5'- CCAATGATTTGCTCCAGAG -3'
Posted On 2019-06-26