Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00963:Kdm6a'

29595

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 #

IGL00963

Quality Score

Status

Chromosome

Chromosomal Location

18028814-18146175 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 18112665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

O70546

Predicted Effect

probably benign
Transcript: ENSMUST00000044484

SMART Domains

Protein: ENSMUSP00000045862
Gene: ENSMUSG00000037369

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 benign
Transcript: ENSMUST00000052368

SMART Domains

Protein: ENSMUSP00000061539
Gene: ENSMUSG00000037369

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 benign
Transcript: ENSMUST00000224084

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI606181	A	C	19: 41,582,228 (GRCm39)		probably benign	Het
Alyref2	C	T	1: 171,331,816 (GRCm39)	Q198*	probably null	Het
Ankrd13a	T	C	5: 114,939,863 (GRCm39)	S497P	probably damaging	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Col13a1	T	C	10: 61,674,476 (GRCm39)		probably benign	Het
Ctnna3	T	A	10: 64,781,728 (GRCm39)	D730E	probably damaging	Het
Dock11	A	G	X: 35,296,035 (GRCm39)	Q1197R	possibly damaging	Het
Drosha	T	A	15: 12,926,083 (GRCm39)	I1224N	probably damaging	Het
Dsc1	T	C	18: 20,245,043 (GRCm39)	K42R	probably null	Het
Engase	A	G	11: 118,373,824 (GRCm39)	D322G	probably damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Fgfr2	C	T	7: 129,830,491 (GRCm39)	M47I	probably damaging	Het
Gad1-ps	G	T	10: 99,281,310 (GRCm39)		noncoding transcript	Het
Gatb	A	G	3: 85,526,255 (GRCm39)	S378G	probably benign	Het
Hivep2	G	A	10: 14,005,091 (GRCm39)	S563N	probably damaging	Het
Irs2	G	A	8: 11,055,867 (GRCm39)	A855V	probably benign	Het
Jagn1	T	C	6: 113,424,436 (GRCm39)	S103P	probably damaging	Het
Lmcd1	T	C	6: 112,306,895 (GRCm39)	C356R	probably damaging	Het
Mefv	T	A	16: 3,533,584 (GRCm39)	Y229F	possibly damaging	Het
Myef2	T	C	2: 124,957,395 (GRCm39)	Y120C	probably damaging	Het
Myo9a	T	G	9: 59,807,655 (GRCm39)	I2074S	probably damaging	Het
Nhs	A	G	X: 160,630,045 (GRCm39)	S337P	probably damaging	Het
Nphp4	T	G	4: 152,622,318 (GRCm39)	H566Q	probably benign	Het
Or2d2	A	T	7: 106,728,272 (GRCm39)	C109*	probably null	Het
Or52z13	T	A	7: 103,246,844 (GRCm39)		probably null	Het
Pabpc2	C	A	18: 39,908,390 (GRCm39)	Q552K	possibly damaging	Het
Podn	T	A	4: 107,879,371 (GRCm39)	N104I	probably damaging	Het
Rit1	T	C	3: 88,633,738 (GRCm39)	V94A	probably damaging	Het
Scn7a	A	T	2: 66,534,289 (GRCm39)		probably benign	Het
Septin4	A	T	11: 87,474,199 (GRCm39)	K29M	possibly damaging	Het
Sowahb	T	C	5: 93,191,870 (GRCm39)	Y283C	probably damaging	Het
Srbd1	A	T	17: 86,422,637 (GRCm39)	W460R	probably damaging	Het
Svep1	T	A	4: 58,072,791 (GRCm39)	K2173*	probably null	Het
Tlr6	T	C	5: 65,112,019 (GRCm39)	N296S	possibly damaging	Het
Trpm8	A	G	1: 88,307,549 (GRCm39)	D1073G	possibly damaging	Het
Ttc28	A	T	5: 111,434,255 (GRCm39)	K2399*	probably null	Het
Ttn	A	G	2: 76,717,627 (GRCm39)		probably benign	Het
Uroc1	C	T	6: 90,315,810 (GRCm39)	T189I	probably benign	Het
Usp18	C	T	6: 121,232,341 (GRCm39)	Q122*	probably null	Het
Zfp420	T	C	7: 29,574,518 (GRCm39)	I246T	probably damaging	Het
Zfp644	T	C	5: 106,786,503 (GRCm39)		probably null	Het
Zfp871	A	T	17: 32,993,726 (GRCm39)	V483E	probably benign	Het

Other mutations in Kdm6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Kdm6a	APN	X	18,102,905 (GRCm39)	missense	possibly damaging	0.94
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