Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00908:Kdm6a'

29574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdm6a

Ensembl Gene

ENSMUSG00000037369

Gene Name

lysine (K)-specific demethylase 6A

Synonyms

Utx

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00908

Quality Score

Status

Chromosome

Chromosomal Location

18028814-18146175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18102905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 211 (F211L)

Ref Sequence

ENSEMBL: ENSMUSP00000061539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044484] [ENSMUST00000052368] [ENSMUST00000223885]

AlphaFold

O70546

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044484
AA Change: F211L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045862
Gene: ENSMUSG00000037369
AA Change: F211L

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
TPR	95	128	4.2e-2	SMART
TPR	132	165	6.1e-6	SMART
TPR	207	240	3.3e-2	SMART
TPR	286	319	2.3e-3	SMART
TPR	320	353	2e-5	SMART
TPR	354	387	7.7e-2	SMART
low complexity region	814	833	N/A	INTRINSIC
low complexity region	919	932	N/A	INTRINSIC
low complexity region	972	983	N/A	INTRINSIC
low complexity region	1055	1071	N/A	INTRINSIC
JmjC	1095	1258	3.9e-51	SMART
Blast:JmjC	1294	1358	7e-35	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052368
AA Change: F211L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061539
Gene: ENSMUSG00000037369
AA Change: F211L

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
TPR	95	128	8.74e0	SMART
TPR	132	165	1.3e-3	SMART
TPR	207	240	7.01e0	SMART
TPR	286	319	4.69e-1	SMART
TPR	320	353	4.21e-3	SMART
TPR	354	387	1.6e1	SMART
low complexity region	814	833	N/A	INTRINSIC
low complexity region	919	932	N/A	INTRINSIC
low complexity region	972	983	N/A	INTRINSIC
low complexity region	1055	1071	N/A	INTRINSIC
JmjC	1095	1258	1.08e-48	SMART
Blast:JmjC	1294	1358	9e-35	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130978

Predicted Effect

silent
Transcript: ENSMUST00000223885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225738

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 located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, caudal body truncation, abnormal neural tube closure and abnormal heart development. Mice hemizygous for this allele exhibit perinatal lethality, abnormal neural tube closure, inability to breath, exencephaly and atelectasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	G	T	15: 83,206,790 (GRCm39)	P266Q	probably benign	Het
Atp6v1b2	T	A	8: 69,548,918 (GRCm39)	D61E	probably benign	Het
Cad	T	C	5: 31,216,398 (GRCm39)	I190T	possibly damaging	Het
Chd9	C	T	8: 91,723,508 (GRCm39)	T558I	probably damaging	Het
Dmkn	G	A	7: 30,477,695 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ifi213	A	T	1: 173,422,649 (GRCm39)	V72E	probably damaging	Het
Ift122	A	G	6: 115,890,870 (GRCm39)	D803G	probably benign	Het
Il2rg	A	T	X: 100,308,454 (GRCm39)		probably benign	Het
Ing2	T	C	8: 48,122,296 (GRCm39)	Q84R	possibly damaging	Het
Lmnb2	T	C	10: 80,745,821 (GRCm39)	D105G	probably damaging	Het
Magee2	A	G	X: 103,900,447 (GRCm39)	I68T	probably benign	Het
Magi2	T	A	5: 20,596,299 (GRCm39)	D415E	probably benign	Het
Mospd2	C	T	X: 163,745,121 (GRCm39)	R135Q	probably damaging	Het
Mysm1	T	C	4: 94,847,172 (GRCm39)	D508G	probably damaging	Het
Naip2	T	C	13: 100,297,157 (GRCm39)	I960V	probably benign	Het
Ncald	C	A	15: 37,372,451 (GRCm39)	M131I	possibly damaging	Het
Nup188	T	C	2: 30,223,412 (GRCm39)	S1096P	probably damaging	Het
Plekha5	G	A	6: 140,496,656 (GRCm39)	E69K	probably damaging	Het
Ppp1cb	C	T	5: 32,635,412 (GRCm39)	R19*	probably null	Het
Rasl11b	G	A	5: 74,356,772 (GRCm39)	V50I	probably damaging	Het
Robo2	C	T	16: 73,782,579 (GRCm39)	R319K	probably damaging	Het
Trip4	T	C	9: 65,782,216 (GRCm39)	D172G	probably damaging	Het
Zc3h7a	G	A	16: 10,963,106 (GRCm39)	R752C	probably damaging	Het

Other mutations in Kdm6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Kdm6a	APN	X	18,112,665 (GRCm39)	splice site	probably benign
IGL02072:Kdm6a	APN	X	18,120,528 (GRCm39)	missense	probably benign	0.00
IGL02426:Kdm6a	APN	X	18,112,549 (GRCm39)	missense	probably damaging	1.00
IGL03351:Kdm6a	APN	X	18,113,343 (GRCm39)	nonsense	probably null
R0539:Kdm6a	UTSW	X	18,128,664 (GRCm39)	missense	probably damaging	0.99
R1387:Kdm6a	UTSW	X	18,120,235 (GRCm39)	splice site	probably benign
R1809:Kdm6a	UTSW	X	18,102,923 (GRCm39)	missense	probably benign	0.44
R2238:Kdm6a	UTSW	X	18,065,476 (GRCm39)	missense	probably damaging	0.99
R2239:Kdm6a	UTSW	X	18,065,476 (GRCm39)	missense	probably damaging	0.99
R4062:Kdm6a	UTSW	X	18,117,114 (GRCm39)	missense	probably benign
R4063:Kdm6a	UTSW	X	18,117,114 (GRCm39)	missense	probably benign

Posted On

2013-04-17