Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Dnmt3l'

692087

Institutional Source

Beutler Lab

Gene Symbol

Dnmt3l

Ensembl Gene

ENSMUSG00000000730

Gene Name

DNA methyltransferase 3-like

Synonyms

D6Ertd14e, ecat7

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77878121-77899456 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 77892756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000746 (fasta)

Gene Model

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

AlphaFold

Q9CWR8

Predicted Effect

probably null
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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794 (GRCm39)	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,244,942 (GRCm39)	P137S	probably damaging	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abcg8	A	C	17: 85,000,243 (GRCm39)	I268L	probably benign	Het
Acvrl1	A	G	15: 101,039,038 (GRCm39)	Q445R	probably damaging	Het
Adam17	T	C	12: 21,380,132 (GRCm39)	N625D	probably benign	Het
Adamts9	C	T	6: 92,857,721 (GRCm39)	V856M	probably damaging	Het
Adar	T	C	3: 89,643,474 (GRCm39)	C452R	probably damaging	Het
Adgra3	G	T	5: 50,136,295 (GRCm39)	A730D	probably damaging	Het
Adnp2	C	T	18: 80,185,925 (GRCm39)	R16Q	probably damaging	Het
Aox1	T	C	1: 58,321,851 (GRCm39)	C48R	probably damaging	Het
Cabin1	T	C	10: 75,492,973 (GRCm39)	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,910 (GRCm39)	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,718,512 (GRCm39)	D36E	possibly damaging	Het
Cep170	T	A	1: 176,616,051 (GRCm39)	K86*	probably null	Het
Cnnm1	T	C	19: 43,464,649 (GRCm39)	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,276,634 (GRCm39)	V532E	probably benign	Het
Dync1h1	T	A	12: 110,622,706 (GRCm39)		probably benign	Het
Dzank1	C	A	2: 144,364,391 (GRCm39)	V69L	probably benign	Het
Epor	T	G	9: 21,870,875 (GRCm39)	E335A	probably damaging	Het
Fbxo46	A	T	7: 18,870,308 (GRCm39)	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,202,779 (GRCm39)		probably benign	Het
Gid8	G	T	2: 180,352,132 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,080,036 (GRCm39)	*240C	probably null	Het
Gnptab	C	T	10: 88,269,400 (GRCm39)	S701L		Het
Ifnl3	T	C	7: 28,223,704 (GRCm39)	L180P	probably benign	Het
Ikzf2	T	A	1: 69,577,956 (GRCm39)	I518F	probably damaging	Het
Ildr1	A	G	16: 36,535,919 (GRCm39)	T145A	probably benign	Het
Kiss1r	A	T	10: 79,754,336 (GRCm39)		probably benign	Het
Lhpp	A	G	7: 132,252,018 (GRCm39)	D219G	probably damaging	Het
Lrp1	A	T	10: 127,390,206 (GRCm39)	M3071K	probably damaging	Het
Map6	T	C	7: 98,986,103 (GRCm39)	L872P	probably damaging	Het
Mgst2	T	A	3: 51,589,233 (GRCm39)	L82Q	probably damaging	Het
Mier2	A	T	10: 79,377,756 (GRCm39)	V399E	probably benign	Het
Nms	T	C	1: 38,985,147 (GRCm39)	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 30,857,016 (GRCm39)	Y145*	probably null	Het
Olfml2a	A	T	2: 38,831,753 (GRCm39)	M111L	probably benign	Het
Or5p63	T	C	7: 107,810,846 (GRCm39)	N297D	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,779 (GRCm39)	L172Q	unknown	Het
Plod3	T	C	5: 137,018,017 (GRCm39)	I221T	probably damaging	Het
Polm	T	C	11: 5,779,872 (GRCm39)	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,521,303 (GRCm39)	L275F	probably damaging	Het
Prdm12	C	T	2: 31,533,929 (GRCm39)	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,458,890 (GRCm39)	V440M	probably damaging	Het
Rnf111	C	T	9: 70,336,846 (GRCm39)	G947D	probably damaging	Het
Runx3	A	T	4: 134,882,692 (GRCm39)	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104 (GRCm39)	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Shroom3	T	C	5: 93,087,975 (GRCm39)	S242P	probably damaging	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Spata31d1a	A	G	13: 59,850,982 (GRCm39)	V382A	probably benign	Het
Tanc2	T	A	11: 105,810,580 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Trip10	C	T	17: 57,560,519 (GRCm39)	A123V	probably damaging	Het
Trmt13	A	G	3: 116,375,129 (GRCm39)	S460P	probably damaging	Het
Trpd52l3	A	G	19: 29,981,329 (GRCm39)	N28S	probably benign	Het
Tubb4a	A	G	17: 57,388,232 (GRCm39)	F265L	probably benign	Het
Uba6	A	T	5: 86,282,934 (GRCm39)	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,211,293 (GRCm39)	V512A	probably damaging	Het
Usp34	A	T	11: 23,320,528 (GRCm39)	M957L		Het
Vmn2r57	T	C	7: 41,078,192 (GRCm39)	I89V	possibly damaging	Het
Zfp1005	T	A	2: 150,109,969 (GRCm39)	C220S	possibly damaging	Het
Zfp322a	T	C	13: 23,541,437 (GRCm39)	I102V	probably benign	Het
Zzef1	A	G	11: 72,790,604 (GRCm39)	D2186G	probably benign	Het

Other mutations in Dnmt3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Dnmt3l	APN	10	77,893,189 (GRCm39)	missense	probably damaging	1.00
IGL00827:Dnmt3l	APN	10	77,889,830 (GRCm39)	missense	probably damaging	1.00
IGL01072:Dnmt3l	APN	10	77,888,605 (GRCm39)	missense	probably benign	0.09
IGL01118:Dnmt3l	APN	10	77,893,120 (GRCm39)	missense	probably damaging	0.97
IGL01553:Dnmt3l	APN	10	77,899,082 (GRCm39)	missense	probably benign	0.00
IGL02322:Dnmt3l	APN	10	77,888,572 (GRCm39)	missense	possibly damaging	0.90
IGL02323:Dnmt3l	APN	10	77,899,152 (GRCm39)	missense	probably damaging	1.00
IGL02618:Dnmt3l	APN	10	77,889,856 (GRCm39)	splice site	probably benign
IGL02701:Dnmt3l	APN	10	77,890,856 (GRCm39)	missense	probably benign	0.01
IGL02950:Dnmt3l	APN	10	77,886,785 (GRCm39)	missense	probably benign	0.01
R0318:Dnmt3l	UTSW	10	77,890,889 (GRCm39)	missense	probably damaging	1.00
R0384:Dnmt3l	UTSW	10	77,888,571 (GRCm39)	missense	possibly damaging	0.95
R0391:Dnmt3l	UTSW	10	77,887,750 (GRCm39)	splice site	probably benign
R1144:Dnmt3l	UTSW	10	77,887,739 (GRCm39)	missense	probably damaging	1.00
R2069:Dnmt3l	UTSW	10	77,888,566 (GRCm39)	missense	probably damaging	1.00
R2115:Dnmt3l	UTSW	10	77,899,130 (GRCm39)	missense	probably damaging	0.99
R2116:Dnmt3l	UTSW	10	77,899,130 (GRCm39)	missense	probably damaging	0.99
R2117:Dnmt3l	UTSW	10	77,899,130 (GRCm39)	missense	probably damaging	0.99
R4812:Dnmt3l	UTSW	10	77,893,128 (GRCm39)	missense	probably benign	0.06
R5001:Dnmt3l	UTSW	10	77,895,565 (GRCm39)	missense	probably null	1.00
R5039:Dnmt3l	UTSW	10	77,888,734 (GRCm39)	splice site	probably null
R5389:Dnmt3l	UTSW	10	77,892,665 (GRCm39)	splice site	probably null
R5799:Dnmt3l	UTSW	10	77,887,860 (GRCm39)	missense	possibly damaging	0.71
R5811:Dnmt3l	UTSW	10	77,887,929 (GRCm39)	missense	possibly damaging	0.78
R5875:Dnmt3l	UTSW	10	77,889,772 (GRCm39)	missense	probably benign
R6314:Dnmt3l	UTSW	10	77,895,521 (GRCm39)	missense	probably benign	0.00
R6537:Dnmt3l	UTSW	10	77,887,898 (GRCm39)	missense	probably null	1.00
R8437:Dnmt3l	UTSW	10	77,888,602 (GRCm39)	missense	possibly damaging	0.94
R9171:Dnmt3l	UTSW	10	77,895,518 (GRCm39)	missense	probably benign
R9205:Dnmt3l	UTSW	10	77,892,586 (GRCm39)	critical splice donor site	probably null
R9473:Dnmt3l	UTSW	10	77,886,022 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTAGGAGGTCTGTCTGGG -3'
(R):5'- AAGTTCACCTGGCAGTTAAGAGC -3'

Sequencing Primer
(F):5'- AGGTCTGTCTGGGTCACC -3'
(R):5'- GGCAGTTAAGAGCCCAGG -3'

Posted On

2021-12-30