Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00225:Kdm4c'

2438

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 #

IGL00225

Quality Score

Status

Chromosome

Chromosomal Location

74160734-74324097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74263804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 696 (V696G)

Ref Sequence

ENSEMBL: ENSMUSP00000077017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030102] [ENSMUST00000077851]

AlphaFold

Q8VCD7

Predicted Effect

probably benign
Transcript: ENSMUST00000030102
AA Change: V696G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030102
Gene: ENSMUSG00000028397
AA Change: V696G

Domain	Start	End	E-Value	Type
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: V696G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000077017
Gene: ENSMUSG00000028397
AA Change: V696G

Domain	Start	End	E-Value	Type
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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Flii	T	C	11: 60,614,241 (GRCm39)	N93D	probably benign	Het
Gm8356	T	C	14: 17,693,287 (GRCm39)	K24E	probably damaging	Het
Hars1	G	A	18: 36,901,225 (GRCm39)	T409M	probably damaging	Het
Ivns1abp	A	G	1: 151,226,863 (GRCm39)		probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Klrb1f	T	A	6: 129,030,138 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,371 (GRCm39)	V1399I	probably benign	Het
LTO1	G	A	7: 144,471,405 (GRCm39)	G86D	possibly damaging	Het
Mki67	A	G	7: 135,291,849 (GRCm39)	V3168A	probably benign	Het
Nf1	T	A	11: 79,286,731 (GRCm39)	I177K	probably damaging	Het
Nnt	A	T	13: 119,506,533 (GRCm39)	N371K	probably damaging	Het
Or13a27	A	G	7: 139,925,123 (GRCm39)	Y260H	probably damaging	Het
Or5p52	C	T	7: 107,502,311 (GRCm39)	P129L	probably damaging	Het
Prkdc	G	T	16: 15,627,508 (GRCm39)	V3389L	possibly damaging	Het
Prr16	T	A	18: 51,436,192 (GRCm39)	Y224N	possibly damaging	Het
Ptgs1	G	A	2: 36,127,231 (GRCm39)	C39Y	probably damaging	Het
Sla	T	C	15: 66,654,479 (GRCm39)	D269G	possibly damaging	Het
Stk38l	T	A	6: 146,659,971 (GRCm39)	M1K	probably null	Het
Trim24	T	A	6: 37,880,583 (GRCm39)	N160K	possibly damaging	Het
Zfp451	A	G	1: 33,825,621 (GRCm39)		probably benign	Het

Other mutations in Kdm4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Kdm4c	APN	4	74,263,738 (GRCm39)	missense	probably benign	0.19
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
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

2011-12-09