Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Dnmt1'

359929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnmt1

Ensembl Gene

ENSMUSG00000004099

Gene Name

DNA methyltransferase (cytosine-5) 1

Synonyms

MTase, Dnmt1o, Cxxc9, MommeD2

Accession Numbers

Genbank: NM_010066

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

20907209-20959888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20927111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 220 (S220G)

Ref Sequence

ENSEMBL: ENSMUSP00000150433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004202] [ENSMUST00000177754] [ENSMUST00000178110] [ENSMUST00000216540]

AlphaFold

P13864

Predicted Effect

probably benign
Transcript: ENSMUST00000004202
AA Change: S338G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000004202
Gene: ENSMUSG00000004099
AA Change: S338G

Domain	Start	End	E-Value	Type
DMAP_binding	16	106	1.7e-13	SMART
low complexity region	121	143	N/A	INTRINSIC
low complexity region	156	166	N/A	INTRINSIC
low complexity region	180	194	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
low complexity region	306	328	N/A	INTRINSIC
Pfam:DNMT1-RFD	405	540	4.8e-46	PFAM
low complexity region	610	625	N/A	INTRINSIC
Pfam:zf-CXXC	648	694	2.7e-17	PFAM
low complexity region	701	711	N/A	INTRINSIC
low complexity region	719	731	N/A	INTRINSIC
BAH	758	884	4.62e-31	SMART
BAH	935	1103	1.79e-37	SMART
low complexity region	1110	1124	N/A	INTRINSIC
Pfam:DNA_methylase	1142	1596	1.3e-49	PFAM
low complexity region	1600	1619	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177754
AA Change: S219G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136982
Gene: ENSMUSG00000004099
AA Change: S219G

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
low complexity region	37	47	N/A	INTRINSIC
low complexity region	61	75	N/A	INTRINSIC
low complexity region	154	171	N/A	INTRINSIC
low complexity region	187	209	N/A	INTRINSIC
Pfam:DNMT1-RFD	286	421	3.4e-40	PFAM
low complexity region	491	506	N/A	INTRINSIC
Pfam:zf-CXXC	529	575	2.3e-17	PFAM
low complexity region	582	592	N/A	INTRINSIC
low complexity region	600	612	N/A	INTRINSIC
BAH	639	765	4.62e-31	SMART
BAH	816	984	1.79e-37	SMART
low complexity region	991	1005	N/A	INTRINSIC
Pfam:DNA_methylase	1023	1477	1.3e-49	PFAM
low complexity region	1481	1500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178110
AA Change: S219G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136669
Gene: ENSMUSG00000004099
AA Change: S219G

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
low complexity region	38	48	N/A	INTRINSIC
low complexity region	62	76	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	188	210	N/A	INTRINSIC
Pfam:DNMT1-RFD	287	422	2.6e-40	PFAM
low complexity region	492	507	N/A	INTRINSIC
Pfam:zf-CXXC	530	576	4.7e-17	PFAM
low complexity region	583	593	N/A	INTRINSIC
low complexity region	601	613	N/A	INTRINSIC
BAH	640	766	4.62e-31	SMART
BAH	817	985	1.79e-37	SMART
low complexity region	992	1006	N/A	INTRINSIC
Pfam:DNA_methylase	1024	1478	8e-50	PFAM
low complexity region	1482	1501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215545

Predicted Effect

probably benign
Transcript: ENSMUST00000216540
AA Change: S220G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a methyltransferase that preferentially methylates cytosines of CpG residues in hemimethylated DNA to generate fully methylated CpG base pairs during DNA replication. This enzyme plays roles in diverse cellular processes including cell cycle regulation, DNA repair, and telomere maintenance. The encoded protein is composed of an N-terminal domain with a nuclear localization sequence and replication fork-targeting domain, a DNA-binding CXXC domain, two bromo-adjacent homology domains, and a C-terminal catalytic domain. Mouse embryonic stem cells mutant for this gene are viable, but when introduced into the germ line, cause a recessive lethal phenotype with mutant embryos displaying stunted growth and developmental defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci. [provided by MGI curators]

Allele List at MGI

All alleles(109) : Targeted, knock-out(5) Targeted, other(11) Gene trapped(92) Chemically induced(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748 (GRCm38)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642 (GRCm38)		probably benign	Het
Acvr1	A	G	2: 58,462,952 (GRCm38)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742 (GRCm38)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616 (GRCm38)		probably null	Het
Btnl9	A	T	11: 49,174,867 (GRCm38)		probably benign	Het
Dbx1	T	A	7: 49,636,577 (GRCm38)	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073 (GRCm38)		probably benign	Het
Dock9	A	T	14: 121,639,978 (GRCm38)	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778 (GRCm38)	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818 (GRCm38)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613 (GRCm38)	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871 (GRCm38)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm38)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673 (GRCm38)		probably benign	Het
Gpr45	C	T	1: 43,032,493 (GRCm38)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517 (GRCm38)	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553 (GRCm38)		probably benign	Het
Kdelc2	A	G	9: 53,392,105 (GRCm38)	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894 (GRCm38)		probably null	Het
Lgr4	T	C	2: 110,008,210 (GRCm38)		probably benign	Het
Lrrc9	C	T	12: 72,478,768 (GRCm38)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432 (GRCm38)	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406 (GRCm38)		probably null	Het
Nectin1	A	G	9: 43,803,552 (GRCm38)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285 (GRCm38)	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512 (GRCm38)	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562 (GRCm38)	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277 (GRCm38)	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929 (GRCm38)	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883 (GRCm38)	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620 (GRCm38)	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299 (GRCm38)	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950 (GRCm38)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190 (GRCm38)	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680 (GRCm38)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411 (GRCm38)	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593 (GRCm38)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373 (GRCm38)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490 (GRCm38)		probably benign	Het
Slc22a30	C	T	19: 8,400,895 (GRCm38)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112 (GRCm38)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419 (GRCm38)	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083 (GRCm38)	V255F	probably benign	Het
St5	T	C	7: 109,556,364 (GRCm38)	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223 (GRCm38)	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549 (GRCm38)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959 (GRCm38)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389 (GRCm38)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701 (GRCm38)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302 (GRCm38)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277 (GRCm38)	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090 (GRCm38)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136 (GRCm38)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438 (GRCm38)	E273G	possibly damaging	Het

Other mutations in Dnmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Dnmt1	APN	9	20,910,270 (GRCm38)	missense	possibly damaging	0.94
IGL01093:Dnmt1	APN	9	20,909,785 (GRCm38)	missense	possibly damaging	0.88
IGL01160:Dnmt1	APN	9	20,917,319 (GRCm38)	missense	possibly damaging	0.90
IGL01704:Dnmt1	APN	9	20,910,180 (GRCm38)	missense	probably damaging	1.00
IGL02105:Dnmt1	APN	9	20,907,882 (GRCm38)	missense	unknown
IGL02124:Dnmt1	APN	9	20,908,549 (GRCm38)	missense	probably damaging	1.00
IGL02188:Dnmt1	APN	9	20,941,738 (GRCm38)	nonsense	probably null
IGL02409:Dnmt1	APN	9	20,926,497 (GRCm38)	missense	probably benign	0.00
IGL02579:Dnmt1	APN	9	20,918,120 (GRCm38)	missense	possibly damaging	0.79
IGL02625:Dnmt1	APN	9	20,927,146 (GRCm38)	missense	probably benign	0.01
IGL02794:Dnmt1	APN	9	20,936,551 (GRCm38)	missense	probably benign
IGL02938:Dnmt1	APN	9	20,941,373 (GRCm38)	missense	probably benign	0.23
IGL03245:Dnmt1	APN	9	20,915,760 (GRCm38)	missense	probably damaging	0.99
IGL03303:Dnmt1	APN	9	20,926,710 (GRCm38)	missense	probably benign
Blankslate	UTSW	9	20,912,225 (GRCm38)	missense	possibly damaging	0.86
Midrash	UTSW	9	20,909,793 (GRCm38)	nonsense	probably null
Rashi	UTSW	9	20,922,112 (GRCm38)	missense	possibly damaging	0.94
B5639:Dnmt1	UTSW	9	20,907,968 (GRCm38)	splice site	probably benign
BB003:Dnmt1	UTSW	9	20,907,559 (GRCm38)	missense	unknown
BB013:Dnmt1	UTSW	9	20,907,559 (GRCm38)	missense	unknown
PIT4576001:Dnmt1	UTSW	9	20,911,775 (GRCm38)	missense	probably benign	0.28
R0071:Dnmt1	UTSW	9	20,908,620 (GRCm38)	missense	probably damaging	0.99
R0180:Dnmt1	UTSW	9	20,908,620 (GRCm38)	missense	probably damaging	0.99
R0368:Dnmt1	UTSW	9	20,941,757 (GRCm38)	missense	probably damaging	0.99
R0387:Dnmt1	UTSW	9	20,918,213 (GRCm38)	missense	probably damaging	1.00
R0529:Dnmt1	UTSW	9	20,911,550 (GRCm38)	missense	probably damaging	1.00
R0532:Dnmt1	UTSW	9	20,918,556 (GRCm38)	splice site	probably benign
R0612:Dnmt1	UTSW	9	20,918,193 (GRCm38)	missense	probably damaging	0.98
R1109:Dnmt1	UTSW	9	20,922,388 (GRCm38)	missense	probably damaging	1.00
R1298:Dnmt1	UTSW	9	20,941,456 (GRCm38)	missense	probably benign
R1345:Dnmt1	UTSW	9	20,908,518 (GRCm38)	missense	probably damaging	1.00
R1472:Dnmt1	UTSW	9	20,932,176 (GRCm38)	missense	probably benign	0.28
R1654:Dnmt1	UTSW	9	20,936,574 (GRCm38)	missense	possibly damaging	0.75
R1817:Dnmt1	UTSW	9	20,927,126 (GRCm38)	missense	probably benign
R1836:Dnmt1	UTSW	9	20,918,246 (GRCm38)	missense	probably damaging	1.00
R1957:Dnmt1	UTSW	9	20,927,146 (GRCm38)	missense	probably benign	0.01
R1958:Dnmt1	UTSW	9	20,927,146 (GRCm38)	missense	probably benign	0.01
R2097:Dnmt1	UTSW	9	20,909,788 (GRCm38)	missense	probably benign	0.00
R2145:Dnmt1	UTSW	9	20,937,155 (GRCm38)	splice site	probably benign
R2326:Dnmt1	UTSW	9	20,924,146 (GRCm38)	splice site	probably benign
R4199:Dnmt1	UTSW	9	20,938,118 (GRCm38)	missense	probably benign	0.00
R4456:Dnmt1	UTSW	9	20,909,842 (GRCm38)	missense	probably damaging	1.00
R4518:Dnmt1	UTSW	9	20,911,978 (GRCm38)	missense	probably benign	0.00
R4586:Dnmt1	UTSW	9	20,926,693 (GRCm38)	missense	probably benign	0.05
R4836:Dnmt1	UTSW	9	20,908,558 (GRCm38)	missense	probably damaging	1.00
R5014:Dnmt1	UTSW	9	20,912,254 (GRCm38)	missense	probably benign	0.07
R5338:Dnmt1	UTSW	9	20,952,719 (GRCm38)	missense	probably benign	0.44
R5385:Dnmt1	UTSW	9	20,918,480 (GRCm38)	missense	probably damaging	1.00
R5579:Dnmt1	UTSW	9	20,920,205 (GRCm38)	missense	probably damaging	1.00
R5645:Dnmt1	UTSW	9	20,922,147 (GRCm38)	missense	probably damaging	1.00
R5719:Dnmt1	UTSW	9	20,912,595 (GRCm38)	missense	possibly damaging	0.86
R5881:Dnmt1	UTSW	9	20,952,717 (GRCm38)	missense	probably damaging	0.97
R6039:Dnmt1	UTSW	9	20,926,420 (GRCm38)	intron	probably benign
R6039:Dnmt1	UTSW	9	20,926,420 (GRCm38)	intron	probably benign
R6143:Dnmt1	UTSW	9	20,927,134 (GRCm38)	missense	probably benign	0.30
R6342:Dnmt1	UTSW	9	20,909,793 (GRCm38)	nonsense	probably null
R6374:Dnmt1	UTSW	9	20,924,045 (GRCm38)	missense	possibly damaging	0.73
R6953:Dnmt1	UTSW	9	20,918,526 (GRCm38)	missense	probably benign
R6990:Dnmt1	UTSW	9	20,915,814 (GRCm38)	nonsense	probably null
R7089:Dnmt1	UTSW	9	20,908,489 (GRCm38)	missense	probably damaging	0.99
R7463:Dnmt1	UTSW	9	20,912,225 (GRCm38)	missense	possibly damaging	0.86
R7522:Dnmt1	UTSW	9	20,920,202 (GRCm38)	missense	probably damaging	0.99
R7695:Dnmt1	UTSW	9	20,913,985 (GRCm38)	missense	probably null	1.00
R7785:Dnmt1	UTSW	9	20,922,049 (GRCm38)	missense	probably damaging	0.98
R7926:Dnmt1	UTSW	9	20,907,559 (GRCm38)	missense	unknown
R8037:Dnmt1	UTSW	9	20,941,564 (GRCm38)	missense	probably damaging	0.99
R8038:Dnmt1	UTSW	9	20,941,564 (GRCm38)	missense	probably damaging	0.99
R8424:Dnmt1	UTSW	9	20,918,540 (GRCm38)	missense	probably benign	0.07
R8692:Dnmt1	UTSW	9	20,941,781 (GRCm38)	missense	probably damaging	1.00
R9016:Dnmt1	UTSW	9	20,936,559 (GRCm38)	missense	possibly damaging	0.67
R9101:Dnmt1	UTSW	9	20,941,543 (GRCm38)	missense	probably damaging	1.00
R9200:Dnmt1	UTSW	9	20,908,600 (GRCm38)	missense	probably benign	0.00
R9248:Dnmt1	UTSW	9	20,922,112 (GRCm38)	missense	possibly damaging	0.94
R9317:Dnmt1	UTSW	9	20,918,279 (GRCm38)	missense	probably damaging	0.99
R9352:Dnmt1	UTSW	9	20,929,088 (GRCm38)	missense	probably benign	0.00
R9438:Dnmt1	UTSW	9	20,915,894 (GRCm38)	missense	probably benign
RF003:Dnmt1	UTSW	9	20,910,131 (GRCm38)	nonsense	probably null
RF004:Dnmt1	UTSW	9	20,910,127 (GRCm38)	nonsense	probably null
RF011:Dnmt1	UTSW	9	20,910,144 (GRCm38)	nonsense	probably null
RF011:Dnmt1	UTSW	9	20,910,128 (GRCm38)	nonsense	probably null
RF015:Dnmt1	UTSW	9	20,910,129 (GRCm38)	nonsense	probably null
RF015:Dnmt1	UTSW	9	20,910,124 (GRCm38)	nonsense	probably null
RF017:Dnmt1	UTSW	9	20,910,126 (GRCm38)	nonsense	probably null
RF023:Dnmt1	UTSW	9	20,910,131 (GRCm38)	nonsense	probably null
RF024:Dnmt1	UTSW	9	20,910,138 (GRCm38)	small insertion	probably benign
RF024:Dnmt1	UTSW	9	20,910,130 (GRCm38)	nonsense	probably null
RF025:Dnmt1	UTSW	9	20,910,135 (GRCm38)	nonsense	probably null
RF025:Dnmt1	UTSW	9	20,910,120 (GRCm38)	nonsense	probably null
RF029:Dnmt1	UTSW	9	20,910,123 (GRCm38)	nonsense	probably null
RF034:Dnmt1	UTSW	9	20,910,120 (GRCm38)	nonsense	probably null
RF037:Dnmt1	UTSW	9	20,910,141 (GRCm38)	nonsense	probably null
RF037:Dnmt1	UTSW	9	20,910,133 (GRCm38)	nonsense	probably null
RF037:Dnmt1	UTSW	9	20,910,119 (GRCm38)	critical splice donor site	probably benign
RF042:Dnmt1	UTSW	9	20,910,119 (GRCm38)	nonsense	probably null
RF045:Dnmt1	UTSW	9	20,910,137 (GRCm38)	small insertion	probably benign
RF045:Dnmt1	UTSW	9	20,910,129 (GRCm38)	nonsense	probably null
RF047:Dnmt1	UTSW	9	20,910,125 (GRCm38)	nonsense	probably null
RF048:Dnmt1	UTSW	9	20,910,126 (GRCm38)	nonsense	probably null
RF054:Dnmt1	UTSW	9	20,910,139 (GRCm38)	nonsense	probably null
RF055:Dnmt1	UTSW	9	20,910,136 (GRCm38)	small insertion	probably benign
RF055:Dnmt1	UTSW	9	20,910,135 (GRCm38)	nonsense	probably null
RF055:Dnmt1	UTSW	9	20,910,128 (GRCm38)	nonsense	probably null
RF059:Dnmt1	UTSW	9	20,910,138 (GRCm38)	small insertion	probably benign
RF059:Dnmt1	UTSW	9	20,910,139 (GRCm38)	nonsense	probably null
RF060:Dnmt1	UTSW	9	20,910,142 (GRCm38)	nonsense	probably null
RF061:Dnmt1	UTSW	9	20,910,130 (GRCm38)	nonsense	probably null
X0026:Dnmt1	UTSW	9	20,913,914 (GRCm38)	missense	probably damaging	1.00
Z1176:Dnmt1	UTSW	9	20,926,554 (GRCm38)	missense	probably benign	0.00
Z1176:Dnmt1	UTSW	9	20,915,863 (GRCm38)	missense	probably damaging	0.99

Posted On

2015-12-18