Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01553:Dnmt3l'

90647

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 #

IGL01553

Quality Score

Status

Chromosome

Chromosomal Location

78041947-78063622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78063248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 94 (S94G)

Ref Sequence

ENSEMBL: ENSMUSP00000119571 (fasta)

Gene Model

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

AlphaFold

Q9CWR8

Predicted Effect

probably benign
Transcript: ENSMUST00000000746
AA Change: S389G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: S389G

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
AA Change: S94G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730
AA Change: S94G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131825
AA Change: S94G

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

SMART Domains

Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730
AA Change: S94G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138785
AA Change: S389G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: S389G

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
AA Change: S94G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730
AA Change: S94G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151242
AA Change: S389G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: S389G

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	T	A	13: 4,194,775	H117Q	probably damaging	Het
Arhgap44	T	C	11: 65,053,118	N188S	probably damaging	Het
Bach1	T	A	16: 87,722,505	I561N	probably damaging	Het
Bsph2	G	T	7: 13,556,720	T78K	probably damaging	Het
Ccdc178	A	G	18: 21,915,006	Y776H	probably damaging	Het
Ccdc7a	T	C	8: 129,026,591		probably benign	Het
Cenpp	C	T	13: 49,464,776	V218M	probably damaging	Het
Dock7	A	T	4: 98,945,566	Y1839*	probably null	Het
Fam129c	G	T	8: 71,602,902	A319S	possibly damaging	Het
Gabra6	T	A	11: 42,315,196	T278S	probably damaging	Het
Galnt11	G	A	5: 25,247,720	D77N	probably benign	Het
Gm17175	T	C	14: 51,570,822	D171G	probably benign	Het
Iqch	T	C	9: 63,500,917	N655S	probably benign	Het
Kdm1b	T	A	13: 47,080,548	I786N	probably damaging	Het
Macf1	G	A	4: 123,493,163	Q976*	probably null	Het
Mbtd1	T	A	11: 93,923,214	C228S	probably benign	Het
Myo10	T	C	15: 25,776,329	L46P	probably damaging	Het
Nup133	A	G	8: 123,915,324	V800A	possibly damaging	Het
Olfr191	G	T	16: 59,086,322	H54N	probably benign	Het
Prkca	C	T	11: 108,057,834	G110R	probably benign	Het
Samd9l	A	T	6: 3,375,566	M565K	probably damaging	Het
Scgn	T	C	13: 23,959,679	Q77R	probably benign	Het
Serpinb6b	T	C	13: 32,974,948	L44P	probably damaging	Het
Tfrc	T	C	16: 32,628,585	V673A	probably benign	Het
Tsfm	G	A	10: 127,028,390	T152M	probably benign	Het
Wdfy3	A	T	5: 101,900,031	C1803S	probably benign	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
IGL02322:Dnmt3l	APN	10	78052738	missense	possibly damaging	0.90
IGL02323:Dnmt3l	APN	10	78063318	missense	probably damaging	1.00
IGL02618:Dnmt3l	APN	10	78054022	splice site	probably benign
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
R9473:Dnmt3l	UTSW	10	78050188	nonsense	probably null

Posted On

2013-12-09