Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Kdm4c'

88548

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

Genbank: NM_001172095; MGI: 1924054

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

74242497-74405860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74343501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 638 (K638E)

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: K638E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030102
Gene: ENSMUSG00000028397
AA Change: K638E

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: K638E

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077017
Gene: ENSMUSG00000028397
AA Change: K638E

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Kdm4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
BB002:Kdm4c	UTSW	4	74404821	missense	probably damaging	0.99
BB012:Kdm4c	UTSW	4	74404821	missense	probably damaging	0.99
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
R7925:Kdm4c	UTSW	4	74404821	missense	probably damaging	0.99
R7976:Kdm4c	UTSW	4	74377669	missense	probably damaging	0.99
R7990:Kdm4c	UTSW	4	74391448	missense	probably damaging	1.00
R8185:Kdm4c	UTSW	4	74373584	missense	probably benign	0.01
R9079:Kdm4c	UTSW	4	74359501	missense	probably benign	0.01

Posted On

2013-11-18