Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02342:Kdm4d'

289135

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdm4d

Ensembl Gene

ENSMUSG00000053914

Gene Name

lysine (K)-specific demethylase 4D

Synonyms

Jmjd2d

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

14462548-14500482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14463564 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 333 (W333R)

Ref Sequence

ENSEMBL: ENSMUSP00000111311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058796] [ENSMUST00000115647]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058796
AA Change: W333R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061632
Gene: ENSMUSG00000053914
AA Change: W333R

Domain	Start	End	E-Value	Type
Pfam:JmjN	16	50	3.3e-15	PFAM
JmjC	143	309	2.3e-57	SMART
low complexity region	370	383	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115647
AA Change: W333R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111311
Gene: ENSMUSG00000053914
AA Change: W333R

Domain	Start	End	E-Value	Type
Pfam:JmjN	16	50	1.1e-16	PFAM
JmjC	143	309	2.3e-57	SMART
low complexity region	370	383	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of histone 3 methylation in spermatids, a transient increase in testes size, wider tubules, occasional male germ cell apoptosis, and decreased body weight. However, fertility is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,175,001	P97Q	probably damaging	Het
Abcb10	A	T	8: 123,962,034	V501E	probably damaging	Het
Acsf3	T	C	8: 122,817,498	Y572H	probably benign	Het
Adamts3	A	T	5: 89,691,473		probably null	Het
Alox8	A	G	11: 69,186,227	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,562,380	T920I	probably benign	Het
Brca2	C	A	5: 150,542,824	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,342,203	H45N	probably damaging	Het
C1s2	A	G	6: 124,632,116	F155L	probably damaging	Het
Ccser2	A	G	14: 36,918,605		probably benign	Het
Cd8a	T	A	6: 71,373,739	C63S	probably damaging	Het
Clk2	A	T	3: 89,175,691	T424S	probably benign	Het
Cntn1	A	G	15: 92,246,017	E287G	probably benign	Het
Cobl	A	C	11: 12,253,672	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,649,896		probably null	Het
Crnkl1	A	T	2: 145,924,713		probably null	Het
Defb26	T	C	2: 152,508,201	N53S	possibly damaging	Het
Duox1	A	T	2: 122,347,312	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,793,761	E116G	possibly damaging	Het
Fam208a	T	A	14: 27,476,667	S1319T	possibly damaging	Het
Fam71f1	A	G	6: 29,323,830	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,178,316	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,804	R571G	probably benign	Het
Hfe2	G	A	3: 96,528,172	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,695,739		probably null	Het
Ighv1-75	T	G	12: 115,834,258		probably benign	Het
Ikzf1	A	G	11: 11,700,216		probably benign	Het
Lama3	A	T	18: 12,491,476	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,704,878	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,024,857	Y884C	probably damaging	Het
Naip6	G	T	13: 100,303,240	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,762,103	H70N	probably damaging	Het
Nol4	A	T	18: 22,770,869		probably benign	Het
Obscn	C	T	11: 59,001,088	A6873T	probably benign	Het
Olfr66	T	A	7: 103,881,380	I288F	probably benign	Het
Olfr705	A	G	7: 106,714,025	S219P	probably benign	Het
Olfr986	T	A	9: 40,187,527	N137K	probably benign	Het
Paqr6	A	G	3: 88,366,184	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,756,044	D274V	probably damaging	Het
Phip	A	G	9: 82,886,692	Y1196H	probably damaging	Het
Prc1	T	C	7: 80,309,442	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,809,180		probably benign	Het
Ssfa2	A	G	2: 79,660,285	N943S	probably benign	Het
Tac1	G	T	6: 7,559,119		probably null	Het
Tg	A	G	15: 66,764,291	T576A	probably benign	Het
Thbs2	A	T	17: 14,676,316	D770E	probably damaging	Het
Tmem117	T	C	15: 95,011,450	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,328,250	I209T	possibly damaging	Het
Ttc30a1	G	T	2: 75,980,632	T369K	probably benign	Het
Wrap53	A	G	11: 69,563,591	F244L	probably damaging	Het
Wrap73	A	T	4: 154,148,780	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,402,374	T2531S	probably benign	Het

Other mutations in Kdm4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Kdm4d	APN	9	14464219	missense	probably benign	0.10
IGL01114:Kdm4d	APN	9	14464197	missense	probably damaging	1.00
IGL01609:Kdm4d	APN	9	14464418	missense	probably damaging	0.99
IGL02513:Kdm4d	APN	9	14464554	missense	probably benign	0.00
IGL03276:Kdm4d	APN	9	14464542	missense	probably benign	0.04
IGL03379:Kdm4d	APN	9	14463843	missense	probably damaging	1.00
R0220:Kdm4d	UTSW	9	14463122	missense	probably benign
R0755:Kdm4d	UTSW	9	14464295	missense	probably damaging	0.99
R1195:Kdm4d	UTSW	9	14463099	missense	probably benign
R1195:Kdm4d	UTSW	9	14463099	missense	probably benign
R1195:Kdm4d	UTSW	9	14463099	missense	probably benign
R1455:Kdm4d	UTSW	9	14464395	missense	probably damaging	0.98
R1552:Kdm4d	UTSW	9	14464029	missense	probably damaging	1.00
R1692:Kdm4d	UTSW	9	14464511	missense	probably benign	0.43
R1871:Kdm4d	UTSW	9	14464383	missense	probably damaging	1.00
R1892:Kdm4d	UTSW	9	14464317	missense	probably benign	0.14
R4792:Kdm4d	UTSW	9	14463390	missense	probably benign
R5113:Kdm4d	UTSW	9	14464113	missense	probably damaging	1.00
R5211:Kdm4d	UTSW	9	14463104	missense	probably benign	0.04
R5352:Kdm4d	UTSW	9	14464358	missense	probably damaging	1.00
R6692:Kdm4d	UTSW	9	14463065	missense	probably benign
R7014:Kdm4d	UTSW	9	14464179	missense	probably damaging	0.99
R7198:Kdm4d	UTSW	9	14464020	missense	probably damaging	1.00
R7260:Kdm4d	UTSW	9	14463158	missense	probably benign	0.05
R8116:Kdm4d	UTSW	9	14463941	missense	probably damaging	1.00
R8134:Kdm4d	UTSW	9	14463236	missense	probably damaging	1.00
R8354:Kdm4d	UTSW	9	14463939	missense	possibly damaging	0.80

Posted On

2015-04-16