Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Kdm3a'

456441

Institutional Source

Beutler Lab

Gene Symbol

Kdm3a

Ensembl Gene

ENSMUSG00000053470

Gene Name

lysine (K)-specific demethylase 3A

Synonyms

C230043E16Rik, Jmjd1a, Tsga, 1700105C21Rik, Jmjd1

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71588972-71632990 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 71632250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065509] [ENSMUST00000167220] [ENSMUST00000205289] [ENSMUST00000207023]

AlphaFold

Q6PCM1

Predicted Effect

probably benign
Transcript: ENSMUST00000065509

SMART Domains

Protein: ENSMUSP00000065716
Gene: ENSMUSG00000053470

Domain	Start	End	E-Value	Type
low complexity region	853	859	N/A	INTRINSIC
JmjC	1060	1283	1.6e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167220

SMART Domains

Protein: ENSMUSP00000128789
Gene: ENSMUSG00000053470

Domain	Start	End	E-Value	Type
low complexity region	853	859	N/A	INTRINSIC
JmjC	1060	1283	1.6e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205289

Predicted Effect

probably benign
Transcript: ENSMUST00000207023

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Male mice homozygous for a hypomorphic allele display infertility, oligoasthenoteratozoospermia, small testis, and impaired spermiogenesis. Mice homozygous for a null allele exhibit abnormal spermatogenesis and obesity associated with hyperlipidemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,173,772	Q745*	probably null	Het
Cep97	G	A	16: 55,919,526	S185L	probably damaging	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Edc4	A	G	8: 105,890,587	T1029A	probably benign	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kcnh8	G	T	17: 52,803,336	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Oas1h	T	C	5: 120,870,977	V250A	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sart3	T	C	5: 113,751,239	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	Het

Other mutations in Kdm3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02168:Kdm3a	APN	6	71600117	missense	probably damaging	1.00
IGL02219:Kdm3a	APN	6	71600734	missense	probably benign	0.01
IGL02423:Kdm3a	APN	6	71614003	splice site	probably benign
IGL02427:Kdm3a	APN	6	71592200	splice site	probably benign
IGL02519:Kdm3a	APN	6	71611586	missense	probably benign	0.04
IGL03143:Kdm3a	APN	6	71596861	missense	probably damaging	0.98
IGL03279:Kdm3a	APN	6	71611675	missense	probably benign
R0194:Kdm3a	UTSW	6	71624594	missense	probably null	0.44
R0408:Kdm3a	UTSW	6	71611679	missense	probably benign	0.00
R0426:Kdm3a	UTSW	6	71600755	missense	probably damaging	1.00
R0608:Kdm3a	UTSW	6	71620046	missense	probably benign	0.01
R1175:Kdm3a	UTSW	6	71600027	missense	possibly damaging	0.94
R1835:Kdm3a	UTSW	6	71613956	missense	probably benign	0.14
R3821:Kdm3a	UTSW	6	71611677	missense	probably benign	0.00
R5083:Kdm3a	UTSW	6	71621362	missense	probably damaging	1.00
R5536:Kdm3a	UTSW	6	71611936	missense	probably benign	0.31
R5965:Kdm3a	UTSW	6	71621380	missense	probably benign	0.21
R6236:Kdm3a	UTSW	6	71611657	missense	probably benign	0.00
R6541:Kdm3a	UTSW	6	71594533	missense	possibly damaging	0.69
R6666:Kdm3a	UTSW	6	71611990	missense	probably benign	0.00
R7090:Kdm3a	UTSW	6	71595545	missense	possibly damaging	0.69
R7112:Kdm3a	UTSW	6	71632170	missense	probably benign
R7136:Kdm3a	UTSW	6	71611780	missense	probably benign	0.00
R7163:Kdm3a	UTSW	6	71632077	missense	probably damaging	1.00
R7608:Kdm3a	UTSW	6	71600747	missense	probably benign	0.01
R7614:Kdm3a	UTSW	6	71591953	missense	possibly damaging	0.82
R7683:Kdm3a	UTSW	6	71599454	missense	probably benign
R7687:Kdm3a	UTSW	6	71599492	missense	possibly damaging	0.64
R7868:Kdm3a	UTSW	6	71595489	missense	probably benign	0.31
R8447:Kdm3a	UTSW	6	71611897	missense	probably benign
R8476:Kdm3a	UTSW	6	71611709	missense	probably damaging	0.98
R8933:Kdm3a	UTSW	6	71600108	missense	probably benign	0.00
R9046:Kdm3a	UTSW	6	71595556	missense	probably damaging	1.00
R9211:Kdm3a	UTSW	6	71596690	missense	probably benign	0.07
R9569:Kdm3a	UTSW	6	71607450	missense	probably benign	0.02
R9727:Kdm3a	UTSW	6	71592110	nonsense	probably null
RF053:Kdm3a	UTSW	6	71632049	critical splice donor site	probably benign

Predicted Primers

Posted On

2017-02-15