Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Dnmt3b'

262266

Institutional Source

Beutler Lab

Gene Symbol

Dnmt3b

Ensembl Gene

ENSMUSG00000027478

Gene Name

DNA methyltransferase 3B

Synonyms

MMRRC Submission

038931-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0751 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

153491370-153529650 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 153516762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056495] [ENSMUST00000072997] [ENSMUST00000081628] [ENSMUST00000088976] [ENSMUST00000103150] [ENSMUST00000103151] [ENSMUST00000109771] [ENSMUST00000109772] [ENSMUST00000109773] [ENSMUST00000109774]

AlphaFold

O88509

Predicted Effect

probably null
Transcript: ENSMUST00000056495

SMART Domains

Protein: ENSMUSP00000051830
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
low complexity region	380	389	N/A	INTRINSIC
PDB:3A1A\|A	421	560	8e-55	PDB
Blast:RING	483	532	6e-28	BLAST
Pfam:DNA_methylase	582	732	3.1e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000072997

SMART Domains

Protein: ENSMUSP00000072761
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
low complexity region	380	389	N/A	INTRINSIC
PDB:3A1A\|A	421	560	8e-55	PDB
Blast:RING	483	532	6e-28	BLAST
Pfam:DNA_methylase	581	731	4.5e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000081628

SMART Domains

Protein: ENSMUSP00000080334
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
PDB:3A1A\|A	401	540	1e-54	PDB
Blast:RING	463	512	7e-28	BLAST
Pfam:DNA_methylase	561	711	4.4e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000088976

SMART Domains

Protein: ENSMUSP00000086370
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
low complexity region	380	389	N/A	INTRINSIC
PDB:3A1A\|A	421	560	7e-55	PDB
Blast:RING	483	532	5e-28	BLAST
Pfam:DNA_methylase	581	727	2.9e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103150

SMART Domains

Protein: ENSMUSP00000099439
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
PDB:3A1A\|A	401	540	8e-55	PDB
Blast:RING	463	512	6e-28	BLAST
Pfam:DNA_methylase	561	707	4.2e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103151

SMART Domains

Protein: ENSMUSP00000099440
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
PDB:3A1A\|A	401	540	8e-55	PDB
Blast:RING	463	512	6e-28	BLAST
Pfam:DNA_methylase	561	707	4.2e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109771

SMART Domains

Protein: ENSMUSP00000105393
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
low complexity region	380	389	N/A	INTRINSIC
PDB:3A1A\|A	421	560	8e-55	PDB
Blast:RING	483	532	6e-28	BLAST
Pfam:DNA_methylase	582	732	3.1e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109772

SMART Domains

Protein: ENSMUSP00000105394
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
low complexity region	380	389	N/A	INTRINSIC
PDB:3A1A\|A	421	560	7e-55	PDB
Blast:RING	483	532	5e-28	BLAST
Pfam:DNA_methylase	581	727	2.9e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109773

SMART Domains

Protein: ENSMUSP00000105395
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
PDB:3A1A\|A	401	540	1e-54	PDB
Blast:RING	463	512	7e-28	BLAST
Pfam:DNA_methylase	561	711	4.4e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109774

SMART Domains

Protein: ENSMUSP00000105396
Gene: ENSMUSG00000027478

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
low complexity region	157	179	N/A	INTRINSIC
PWWP	230	288	2.43e-26	SMART
low complexity region	380	389	N/A	INTRINSIC
PDB:3A1A\|A	421	560	8e-55	PDB
Blast:RING	483	532	6e-28	BLAST
Pfam:DNA_methylase	581	731	4.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140811

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: This is one of two related genes encoding de novo DNA methyltransferases, which are responsible for the establishment of DNA methylation patterns in embryos. Loss of function of this gene results in severe developmental defects and loss of viability. Mutation of the related gene in humans causes immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. There is a pseudogene for this gene located adjacent to this gene in the same region of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chtf8	A	G	8: 107,613,109 (GRCm39)		probably null	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Hkdc1	T	C	10: 62,234,452 (GRCm39)	D581G	probably damaging	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Ssb	T	A	2: 69,700,909 (GRCm39)	S330T	probably benign	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het

Other mutations in Dnmt3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Dnmt3b	APN	2	153,514,422 (GRCm39)	missense	possibly damaging	0.88
IGL00931:Dnmt3b	APN	2	153,528,170 (GRCm39)	splice site	probably benign
IGL01073:Dnmt3b	APN	2	153,512,762 (GRCm39)	splice site	probably benign
IGL01138:Dnmt3b	APN	2	153,503,361 (GRCm39)	missense	probably benign	0.01
IGL01960:Dnmt3b	APN	2	153,518,631 (GRCm39)	missense	possibly damaging	0.83
IGL02884:Dnmt3b	APN	2	153,516,297 (GRCm39)	missense	probably damaging	1.00
IGL03382:Dnmt3b	APN	2	153,528,279 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Dnmt3b	UTSW	2	153,526,399 (GRCm39)	critical splice donor site	probably null
R0062:Dnmt3b	UTSW	2	153,514,192 (GRCm39)	missense	probably benign	0.01
R0122:Dnmt3b	UTSW	2	153,518,618 (GRCm39)	missense	probably damaging	1.00
R0147:Dnmt3b	UTSW	2	153,503,377 (GRCm39)	missense	possibly damaging	0.68
R0178:Dnmt3b	UTSW	2	153,516,938 (GRCm39)	missense	probably benign	0.41
R1696:Dnmt3b	UTSW	2	153,518,630 (GRCm39)	nonsense	probably null
R1795:Dnmt3b	UTSW	2	153,525,559 (GRCm39)	missense	possibly damaging	0.92
R1889:Dnmt3b	UTSW	2	153,518,679 (GRCm39)	missense	probably benign
R2898:Dnmt3b	UTSW	2	153,509,550 (GRCm39)	missense	possibly damaging	0.85
R4201:Dnmt3b	UTSW	2	153,512,337 (GRCm39)	nonsense	probably null
R4630:Dnmt3b	UTSW	2	153,512,235 (GRCm39)	nonsense	probably null
R4870:Dnmt3b	UTSW	2	153,512,284 (GRCm39)	missense	probably benign	0.01
R5648:Dnmt3b	UTSW	2	153,519,118 (GRCm39)	missense	probably damaging	1.00
R5814:Dnmt3b	UTSW	2	153,514,417 (GRCm39)	missense	probably benign	0.00
R6311:Dnmt3b	UTSW	2	153,515,925 (GRCm39)	missense	probably damaging	1.00
R6625:Dnmt3b	UTSW	2	153,507,233 (GRCm39)	missense	probably benign
R6818:Dnmt3b	UTSW	2	153,528,204 (GRCm39)	missense	probably damaging	1.00
R7258:Dnmt3b	UTSW	2	153,525,519 (GRCm39)	splice site	probably null
R7473:Dnmt3b	UTSW	2	153,526,370 (GRCm39)	missense	probably damaging	1.00
R7570:Dnmt3b	UTSW	2	153,518,619 (GRCm39)	missense	probably damaging	1.00
R7627:Dnmt3b	UTSW	2	153,519,500 (GRCm39)	missense	probably benign	0.03
R7709:Dnmt3b	UTSW	2	153,514,140 (GRCm39)	missense	probably benign	0.10
R8483:Dnmt3b	UTSW	2	153,516,306 (GRCm39)	missense	probably damaging	1.00
R8771:Dnmt3b	UTSW	2	153,504,734 (GRCm39)	missense	possibly damaging	0.94
R8775:Dnmt3b	UTSW	2	153,511,711 (GRCm39)	missense	possibly damaging	0.83
R8775-TAIL:Dnmt3b	UTSW	2	153,511,711 (GRCm39)	missense	possibly damaging	0.83
R8821:Dnmt3b	UTSW	2	153,518,734 (GRCm39)	missense	probably benign	0.15
R8850:Dnmt3b	UTSW	2	153,515,933 (GRCm39)	missense	probably benign	0.16
R9102:Dnmt3b	UTSW	2	153,518,703 (GRCm39)	missense	probably damaging	0.98
R9228:Dnmt3b	UTSW	2	153,507,980 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2015-02-04