Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Kdm6a'

419719

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

18162575-18279936 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 18247104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 92 (Q92*)

Ref Sequence

ENSEMBL: ENSMUSP00000153267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044484] [ENSMUST00000052368] [ENSMUST00000223885] [ENSMUST00000224084] [ENSMUST00000224255]

AlphaFold

O70546

Predicted Effect

probably null
Transcript: ENSMUST00000044484
AA Change: Q444*

SMART Domains

Protein: ENSMUSP00000045862
Gene: ENSMUSG00000037369
AA Change: Q444*

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

probably null
Transcript: ENSMUST00000052368
AA Change: Q444*

SMART Domains

Protein: ENSMUSP00000061539
Gene: ENSMUSG00000037369
AA Change: Q444*

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

probably benign
Transcript: ENSMUST00000223885

Predicted Effect

probably null
Transcript: ENSMUST00000224084
AA Change: Q92*

Predicted Effect

probably benign
Transcript: ENSMUST00000224255

Predicted Effect

probably benign
Transcript: ENSMUST00000225336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226046

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Kdm6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Kdm6a	APN	X	18236666	missense	possibly damaging	0.94
IGL00963:Kdm6a	APN	X	18246426	splice site	probably benign
IGL02072:Kdm6a	APN	X	18254289	missense	probably benign	0.00
IGL02426:Kdm6a	APN	X	18246310	missense	probably damaging	1.00
R0539:Kdm6a	UTSW	X	18262425	missense	probably damaging	0.99
R1387:Kdm6a	UTSW	X	18253996	splice site	probably benign
R1809:Kdm6a	UTSW	X	18236684	missense	probably benign	0.44
R2238:Kdm6a	UTSW	X	18199237	missense	probably damaging	0.99
R2239:Kdm6a	UTSW	X	18199237	missense	probably damaging	0.99
R4062:Kdm6a	UTSW	X	18250875	missense	probably benign
R4063:Kdm6a	UTSW	X	18250875	missense	probably benign

Posted On

2016-08-02