Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00160:Dnmt3l'

1236

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 #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

78041947-78063622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78057355 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 322 (D322G)

Ref Sequence

ENSEMBL: ENSMUSP00000116970 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000000746
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: D322G

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 damaging
Transcript: ENSMUST00000123940
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730
AA Change: D27G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131825
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730
AA Change: D27G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138785
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: D322G

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 damaging
Transcript: ENSMUST00000139539
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730
AA Change: D27G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144446

Predicted Effect

probably damaging
Transcript: ENSMUST00000151242
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: D322G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,321,002	K133E	possibly damaging	Het
4931406P16Rik	G	A	7: 34,239,006	H1035Y	possibly damaging	Het
4932414N04Rik	C	T	2: 68,732,875	A387V	probably benign	Het
Adamts3	C	T	5: 89,861,325	V160I	probably damaging	Het
Arhgef26	T	C	3: 62,340,383	V296A	probably benign	Het
Bdp1	A	T	13: 100,061,198	M893K	probably benign	Het
Camk2d	T	A	3: 126,838,272	C407*	probably null	Het
Casc1	T	A	6: 145,175,290	H601L	probably benign	Het
Ces1h	T	C	8: 93,357,463	D373G	probably benign	Het
Ces2f	A	T	8: 104,949,973	N100Y	probably damaging	Het
Ces2f	A	T	8: 104,949,972	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,191,161	T223A	probably damaging	Het
Fbxl20	C	T	11: 98,090,674	G396D	possibly damaging	Het
Gldc	T	C	19: 30,115,240	T760A	probably damaging	Het
Gm6483	T	A	8: 19,691,647		noncoding transcript	Het
Hcrtr2	A	T	9: 76,228,155	V460D	possibly damaging	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mrgpra2a	A	T	7: 47,426,538	M324K	probably damaging	Het
N4bp3	C	T	11: 51,645,316	A230T	probably benign	Het
Nphs1	T	G	7: 30,482,551	W1204G	possibly damaging	Het
Obscn	C	A	11: 59,002,057	A6788S	probably benign	Het
Ofcc1	T	C	13: 40,142,804	D518G	probably damaging	Het
Optc	T	C	1: 133,902,108	Y188C	probably damaging	Het
Prss45	C	A	9: 110,841,005	A285E	probably damaging	Het
Rcan2	C	T	17: 44,037,069	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,377,354		probably null	Het
Sorbs1	T	A	19: 40,318,029	T1064S	probably damaging	Het
Sptb	T	C	12: 76,623,169	K462E	probably damaging	Het
Sstr1	A	G	12: 58,212,750	E53G	probably benign	Het
Stxbp2	A	T	8: 3,636,354		probably null	Het
Tex35	G	A	1: 157,099,756		probably benign	Het
Thnsl1	T	C	2: 21,212,449	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,260,362	A424V	probably damaging	Het
Unc80	A	T	1: 66,654,395	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,002,686	E333G	probably null	Het
Vmn1r27	T	C	6: 58,215,134	Y245C	probably benign	Het
Zfp488	T	C	14: 33,971,069	M46V	probably benign	Het
Zfp566	G	T	7: 30,078,511	Q82K	probably benign	Het
Znhit6	T	C	3: 145,578,160	S62P	probably damaging	Het
Znrf3	T	C	11: 5,289,039	H108R	probably damaging	Het

Other mutations in Dnmt3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12