Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Kdm8'

225681

Institutional Source

Beutler Lab

Gene Symbol

Kdm8

Ensembl Gene

ENSMUSG00000030752

Gene Name

lysine (K)-specific demethylase 8

Synonyms

Jmjd5, 3110005O21Rik

MMRRC Submission

040005-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1995 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

125043848-125061441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125051511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 35 (G35S)

Ref Sequence

ENSEMBL: ENSMUSP00000033010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033010] [ENSMUST00000135129]

AlphaFold

Q9CXT6

Predicted Effect

probably benign
Transcript: ENSMUST00000033010
AA Change: G35S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033010
Gene: ENSMUSG00000030752
AA Change: G35S

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
JmjC	269	414	2.71e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135129

SMART Domains

Protein: ENSMUSP00000114890
Gene: ENSMUSG00000030752

Domain	Start	End	E-Value	Type
Pfam:Cupin_8	13	152	1.4e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality during organogenesis associated with severe growth retardation and abnormal embryo turning. Observed phenotypes include open neural tubes and absent vitelline blood vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,678,872 (GRCm39)	K145N	probably damaging	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Btbd9	A	G	17: 30,493,904 (GRCm39)	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,569,026 (GRCm39)	N899K	possibly damaging	Het
Cenpl	T	C	1: 160,905,994 (GRCm39)	S123P	probably damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112 (GRCm39)	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,557,790 (GRCm39)	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,656,143 (GRCm39)	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,276,695 (GRCm39)	E495D	probably benign	Het
Dmp1	T	G	5: 104,357,779 (GRCm39)	S40A	possibly damaging	Het
Dpysl4	A	G	7: 138,676,686 (GRCm39)	I379V	probably benign	Het
Eral1	C	T	11: 77,965,315 (GRCm39)	G367S	probably benign	Het
Fah	C	T	7: 84,251,389 (GRCm39)	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,192,293 (GRCm39)		probably null	Het
Fbxo40	T	C	16: 36,790,231 (GRCm39)	D293G	probably damaging	Het
Gemin6	A	C	17: 80,535,414 (GRCm39)	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,318,603 (GRCm39)	G282D	possibly damaging	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Gucy1b1	A	G	3: 81,942,160 (GRCm39)	I533T	probably damaging	Het
H2-M9	A	T	17: 36,952,678 (GRCm39)	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,692,909 (GRCm39)	D868Y	probably damaging	Het
Itprid1	T	C	6: 55,945,694 (GRCm39)	I805T	probably benign	Het
Jarid2	T	C	13: 45,027,917 (GRCm39)	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,779,990 (GRCm39)	N287K	possibly damaging	Het
Kirrel1	G	T	3: 87,003,093 (GRCm39)	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,855,220 (GRCm39)		probably null	Het
Mfsd12	C	A	10: 81,193,515 (GRCm39)	H28Q	probably damaging	Het
Neb	C	T	2: 52,188,744 (GRCm39)	V837M	probably damaging	Het
Nkain2	A	G	10: 32,278,347 (GRCm39)	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,848,623 (GRCm39)	R175G	probably benign	Het
Or10ag57	T	G	2: 87,218,175 (GRCm39)	I42R	probably damaging	Het
Or5ac23	A	G	16: 59,149,654 (GRCm39)	S73P	probably damaging	Het
Or5d35	T	A	2: 87,856,016 (GRCm39)	S317T	probably benign	Het
Or8g52	T	C	9: 39,630,709 (GRCm39)	F62S	probably damaging	Het
Pcnt	G	A	10: 76,228,633 (GRCm39)	Q1511*	probably null	Het
Piezo2	G	T	18: 63,211,852 (GRCm39)	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 115,953,241 (GRCm39)	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,546,364 (GRCm39)	S905T	probably benign	Het
Pikfyve	T	A	1: 65,285,867 (GRCm39)	D1035E	probably damaging	Het
Pkn3	G	C	2: 29,979,989 (GRCm39)	G744A	probably damaging	Het
Pms1	A	G	1: 53,234,174 (GRCm39)	S781P	probably benign	Het
Pogz	C	T	3: 94,785,255 (GRCm39)	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,376,405 (GRCm39)	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026 (GRCm39)	R630*	probably null	Het
Scd4	T	A	19: 44,322,617 (GRCm39)	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,799,159 (GRCm39)	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,374,618 (GRCm39)	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,864,194 (GRCm39)	L447F	probably benign	Het
Speer2	A	G	16: 69,654,965 (GRCm39)	S167P	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tbcel	C	A	9: 42,362,957 (GRCm39)	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,414,468 (GRCm39)	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,824,304 (GRCm39)	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,667,510 (GRCm39)	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,565,112 (GRCm39)	I255F	probably damaging	Het
Zp2	T	A	7: 119,734,388 (GRCm39)	I554F	probably damaging	Het

Other mutations in Kdm8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Kdm8	APN	7	125,060,377 (GRCm39)	missense	probably damaging	1.00
IGL01975:Kdm8	APN	7	125,051,529 (GRCm39)	missense	probably benign	0.04
IGL02019:Kdm8	APN	7	125,051,658 (GRCm39)	missense	probably damaging	0.98
IGL03387:Kdm8	APN	7	125,054,278 (GRCm39)	missense	probably benign	0.00
R0321:Kdm8	UTSW	7	125,060,178 (GRCm39)	missense	probably damaging	1.00
R0479:Kdm8	UTSW	7	125,051,812 (GRCm39)	missense	probably damaging	1.00
R4058:Kdm8	UTSW	7	125,055,666 (GRCm39)	missense	probably damaging	1.00
R4760:Kdm8	UTSW	7	125,054,431 (GRCm39)	critical splice donor site	probably null
R5683:Kdm8	UTSW	7	125,054,345 (GRCm39)	missense	possibly damaging	0.93
R6876:Kdm8	UTSW	7	125,051,830 (GRCm39)	missense	probably benign	0.00
R7189:Kdm8	UTSW	7	125,060,103 (GRCm39)	missense	probably damaging	1.00
R9154:Kdm8	UTSW	7	125,054,296 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAGACCTTGTTGAAACACACTG -3'
(R):5'- ACAGTAGTGGCCTTCTGTGG -3'

Sequencing Primer
(F):5'- CACTGGTGTGAAGTACAGGTG -3'
(R):5'- CTTCAGGAGGCAGCCGAAG -3'

Posted On

2014-08-25