Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02618:Dnmt3l'

300756

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnmt3l

Ensembl Gene

ENSMUSG00000000730

Gene Name

DNA (cytosine-5-)-methyltransferase 3-like

Synonyms

D6Ertd14e, ecat7

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02618

Quality Score

Status

Chromosome

Chromosomal Location

78041947-78063622 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78054022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000746] [ENSMUST00000123940] [ENSMUST00000131825] [ENSMUST00000138785] [ENSMUST00000139539] [ENSMUST00000151242]

AlphaFold

Q9CWR8

Predicted Effect

probably benign
Transcript: ENSMUST00000000746

SMART Domains

Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
PDB:2PVC\|C	38	415	1e-163	PDB
SCOP:d1fp0a1	123	191	5e-3	SMART
Blast:RING	130	179	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123940

SMART Domains

Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730

Domain	Start	End	E-Value	Type
PDB:2QRV\|G	1	120	1e-38	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000131825

SMART Domains

Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730

Domain	Start	End	E-Value	Type
PDB:2QRV\|G	1	120	1e-38	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000138785

SMART Domains

Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
PDB:2PVC\|C	38	415	1e-163	PDB
SCOP:d1fp0a1	123	191	5e-3	SMART
Blast:RING	130	179	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000139539

SMART Domains

Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730

Domain	Start	End	E-Value	Type
PDB:2QRV\|G	1	120	1e-38	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144446

Predicted Effect

probably benign
Transcript: ENSMUST00000151242

SMART Domains

Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
PDB:2PVC\|C	38	415	1e-163	PDB
SCOP:d1fp0a1	123	191	5e-3	SMART
Blast:RING	130	179	1e-18	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein that is a catalytically inactive regulatory factor of DNA methyltransferases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutants in this imprinted gene lack appropriate methylation of the maternal allele and this, in turn, causes azoospermia in homozygous males; and heterozygous progeny of homozygous females die by midgestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,057,301	Q178*	probably null	Het
Adgre1	T	A	17: 57,444,021	V565E	possibly damaging	Het
Arfgef2	C	A	2: 166,853,313	N535K	probably damaging	Het
Bbx	A	G	16: 50,247,798	L161S	probably damaging	Het
Bclaf1	T	C	10: 20,323,528	S224P	probably damaging	Het
Car2	A	G	3: 14,897,972	D189G	probably benign	Het
Catsperb	A	T	12: 101,480,724		probably benign	Het
Ccdc88c	C	T	12: 100,913,553	V1770I	probably benign	Het
Cebpe	T	C	14: 54,710,777	D203G	probably damaging	Het
Chn2	A	G	6: 54,220,437	N104S	probably damaging	Het
Clec2i	G	A	6: 128,896,501	C231Y	probably damaging	Het
Col4a5	C	T	X: 141,683,682	P1557S	probably damaging	Het
Creb3l1	T	C	2: 91,983,198	N498S	probably benign	Het
Ctnnal1	A	T	4: 56,817,060	D587E	probably benign	Het
Dock7	A	G	4: 99,083,028	V100A	probably benign	Het
Frk	C	T	10: 34,583,964	T185I	possibly damaging	Het
Frmd4b	G	A	6: 97,308,105	Q340*	probably null	Het
Lima1	C	A	15: 99,802,216		probably benign	Het
Ndrg1	G	A	15: 66,940,237	H202Y	probably benign	Het
Nxpe2	T	G	9: 48,326,334	N207T	probably damaging	Het
Olfr201	A	T	16: 59,268,927	S247T	probably damaging	Het
Pdzph1	T	C	17: 58,879,073		probably benign	Het
Pinx1	A	G	14: 63,868,520	D75G	probably damaging	Het
Plxdc1	A	T	11: 97,932,304	D370E	probably benign	Het
Polb	A	T	8: 22,637,093	L228Q	probably damaging	Het
Rab3gap2	T	A	1: 185,251,741	I521N	possibly damaging	Het
Rapgef1	A	G	2: 29,737,943	D1045G	probably damaging	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Soga1	A	G	2: 157,040,566	L522P	probably damaging	Het
Src	A	T	2: 157,464,778	K234*	probably null	Het
Stk36	C	A	1: 74,631,675		probably benign	Het
Ttll6	G	T	11: 96,147,562	C412F	probably benign	Het
Zfp58	A	G	13: 67,491,356	F339L	possibly damaging	Het

Other mutations in Dnmt3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Dnmt3l	APN	10	78057355	missense	probably damaging	1.00
IGL00827:Dnmt3l	APN	10	78053996	missense	probably damaging	1.00
IGL01072:Dnmt3l	APN	10	78052771	missense	probably benign	0.09
IGL01118:Dnmt3l	APN	10	78057286	missense	probably damaging	0.97
IGL01553:Dnmt3l	APN	10	78063248	missense	probably benign	0.00
IGL02322:Dnmt3l	APN	10	78052738	missense	possibly damaging	0.90
IGL02323:Dnmt3l	APN	10	78063318	missense	probably damaging	1.00
IGL02701:Dnmt3l	APN	10	78055022	missense	probably benign	0.01
IGL02950:Dnmt3l	APN	10	78050951	missense	probably benign	0.01
R0318:Dnmt3l	UTSW	10	78055055	missense	probably damaging	1.00
R0384:Dnmt3l	UTSW	10	78052737	missense	possibly damaging	0.95
R0391:Dnmt3l	UTSW	10	78051916	splice site	probably benign
R1144:Dnmt3l	UTSW	10	78051905	missense	probably damaging	1.00
R2069:Dnmt3l	UTSW	10	78052732	missense	probably damaging	1.00
R2115:Dnmt3l	UTSW	10	78063296	missense	probably damaging	0.99
R2116:Dnmt3l	UTSW	10	78063296	missense	probably damaging	0.99
R2117:Dnmt3l	UTSW	10	78063296	missense	probably damaging	0.99
R4812:Dnmt3l	UTSW	10	78057294	missense	probably benign	0.06
R5001:Dnmt3l	UTSW	10	78059731	missense	probably null	1.00
R5039:Dnmt3l	UTSW	10	78052900	splice site	probably null
R5389:Dnmt3l	UTSW	10	78056831	splice site	probably null
R5799:Dnmt3l	UTSW	10	78052026	missense	possibly damaging	0.71
R5811:Dnmt3l	UTSW	10	78052095	missense	possibly damaging	0.78
R5875:Dnmt3l	UTSW	10	78053938	missense	probably benign
R6314:Dnmt3l	UTSW	10	78059687	missense	probably benign	0.00
R6537:Dnmt3l	UTSW	10	78052064	missense	probably null	1.00
R8437:Dnmt3l	UTSW	10	78052768	missense	possibly damaging	0.94
R9108:Dnmt3l	UTSW	10	78056922	critical splice donor site	probably null
R9171:Dnmt3l	UTSW	10	78059684	missense	probably benign
R9205:Dnmt3l	UTSW	10	78056752	critical splice donor site	probably null

Posted On

2015-04-16