Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03303:Dnmt1'

416299

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

20907209-20959888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20926710 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 236 (I236T)

Ref Sequence

ENSEMBL: ENSMUSP00000150433 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000004202
AA Change: I354T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004202
Gene: ENSMUSG00000004099
AA Change: I354T

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: I235T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136982
Gene: ENSMUSG00000004099
AA Change: I235T

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: I235T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136669
Gene: ENSMUSG00000004099
AA Change: I235T

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: I236T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,870,077	E17G	possibly damaging	Het
A2m	T	A	6: 121,667,163	V940E	probably damaging	Het
Agap1	T	A	1: 89,665,152	V307D	probably damaging	Het
Amd1	A	G	10: 40,290,125	V286A	possibly damaging	Het
Chrne	T	C	11: 70,615,100	K453R	possibly damaging	Het
Ckm	T	A	7: 19,414,338		probably benign	Het
Ckmt1	A	G	2: 121,360,005	T138A	probably benign	Het
Cldn4	A	G	5: 134,946,249	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,546,766	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,727,812	D352E	probably damaging	Het
Enam	G	T	5: 88,504,591	V1320L	probably benign	Het
Ezh1	A	C	11: 101,195,671		probably null	Het
F13b	A	T	1: 139,513,036	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,597,688	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,113,739	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,597,978	Q181*	probably null	Het
Htr2b	T	C	1: 86,099,339		probably benign	Het
Igkv1-35	A	G	6: 70,011,651	I8T	probably benign	Het
Kcnq2	T	C	2: 181,082,389	T584A	probably benign	Het
Khdrbs3	A	G	15: 69,024,823	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,978,843	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,629,592	I188F	probably damaging	Het
Med1	G	T	11: 98,158,352	N539K	probably damaging	Het
Mga	T	A	2: 119,903,452	D260E	probably damaging	Het
Mnd1	A	G	3: 84,104,937	I155T	probably benign	Het
Msrb3	T	C	10: 120,784,141	D91G	probably benign	Het
Mycbp2	A	T	14: 103,247,758	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323		probably benign	Het
Nrsn2	T	C	2: 152,374,211	D24G	possibly damaging	Het
Olfr1262	A	T	2: 90,002,466	K20I	possibly damaging	Het
Osmr	T	A	15: 6,842,808	R268S	probably benign	Het
Pelo	C	A	13: 115,088,661	V343L	probably damaging	Het
Rp1	T	A	1: 4,344,817	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,228,012	Q33*	probably null	Het
Slfn2	G	A	11: 83,069,467	V91I	possibly damaging	Het
Socs6	G	T	18: 88,869,744	A349E	probably damaging	Het
Syt2	A	G	1: 134,741,911	N97D	probably benign	Het
Tas2r123	T	A	6: 132,847,438	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,590,725		probably benign	Het
Ube2s	A	T	7: 4,810,477	V35D	probably damaging	Het
Usp32	A	T	11: 85,022,832	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,578,009	E275D	probably benign	Het
Vps13c	A	G	9: 67,934,504	H1936R	probably benign	Het
Wrap73	C	A	4: 154,146,543	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,403,350	T2856M	probably damaging	Het
Zmym1	A	T	4: 127,049,134	I487N	probably damaging	Het

Other mutations in Dnmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Dnmt1	APN	9	20910270	missense	possibly damaging	0.94
IGL01093:Dnmt1	APN	9	20909785	missense	possibly damaging	0.88
IGL01160:Dnmt1	APN	9	20917319	missense	possibly damaging	0.90
IGL01704:Dnmt1	APN	9	20910180	missense	probably damaging	1.00
IGL02105:Dnmt1	APN	9	20907882	missense	unknown
IGL02124:Dnmt1	APN	9	20908549	missense	probably damaging	1.00
IGL02188:Dnmt1	APN	9	20941738	nonsense	probably null
IGL02409:Dnmt1	APN	9	20926497	missense	probably benign	0.00
IGL02579:Dnmt1	APN	9	20918120	missense	possibly damaging	0.79
IGL02625:Dnmt1	APN	9	20927146	missense	probably benign	0.01
IGL02794:Dnmt1	APN	9	20936551	missense	probably benign
IGL02795:Dnmt1	APN	9	20927111	missense	probably benign	0.12
IGL02938:Dnmt1	APN	9	20941373	missense	probably benign	0.23
IGL03245:Dnmt1	APN	9	20915760	missense	probably damaging	0.99
B5639:Dnmt1	UTSW	9	20907968	splice site	probably benign
PIT4576001:Dnmt1	UTSW	9	20911775	missense	probably benign	0.28
R0071:Dnmt1	UTSW	9	20908620	missense	probably damaging	0.99
R0180:Dnmt1	UTSW	9	20908620	missense	probably damaging	0.99
R0368:Dnmt1	UTSW	9	20941757	missense	probably damaging	0.99
R0387:Dnmt1	UTSW	9	20918213	missense	probably damaging	1.00
R0529:Dnmt1	UTSW	9	20911550	missense	probably damaging	1.00
R0532:Dnmt1	UTSW	9	20918556	splice site	probably benign
R0612:Dnmt1	UTSW	9	20918193	missense	probably damaging	0.98
R1109:Dnmt1	UTSW	9	20922388	missense	probably damaging	1.00
R1298:Dnmt1	UTSW	9	20941456	missense	probably benign
R1345:Dnmt1	UTSW	9	20908518	missense	probably damaging	1.00
R1472:Dnmt1	UTSW	9	20932176	missense	probably benign	0.28
R1654:Dnmt1	UTSW	9	20936574	missense	possibly damaging	0.75
R1817:Dnmt1	UTSW	9	20927126	missense	probably benign
R1836:Dnmt1	UTSW	9	20918246	missense	probably damaging	1.00
R1957:Dnmt1	UTSW	9	20927146	missense	probably benign	0.01
R1958:Dnmt1	UTSW	9	20927146	missense	probably benign	0.01
R2097:Dnmt1	UTSW	9	20909788	missense	probably benign	0.00
R2145:Dnmt1	UTSW	9	20937155	splice site	probably benign
R2326:Dnmt1	UTSW	9	20924146	splice site	probably benign
R4199:Dnmt1	UTSW	9	20938118	missense	probably benign	0.00
R4456:Dnmt1	UTSW	9	20909842	missense	probably damaging	1.00
R4518:Dnmt1	UTSW	9	20911978	missense	probably benign	0.00
R4586:Dnmt1	UTSW	9	20926693	missense	probably benign	0.05
R4836:Dnmt1	UTSW	9	20908558	missense	probably damaging	1.00
R5014:Dnmt1	UTSW	9	20912254	missense	probably benign	0.07
R5338:Dnmt1	UTSW	9	20952719	missense	probably benign	0.44
R5385:Dnmt1	UTSW	9	20918480	missense	probably damaging	1.00
R5579:Dnmt1	UTSW	9	20920205	missense	probably damaging	1.00
R5645:Dnmt1	UTSW	9	20922147	missense	probably damaging	1.00
R5719:Dnmt1	UTSW	9	20912595	missense	possibly damaging	0.86
R5881:Dnmt1	UTSW	9	20952717	missense	probably damaging	0.97
R6039:Dnmt1	UTSW	9	20926420	intron	probably benign
R6039:Dnmt1	UTSW	9	20926420	intron	probably benign
R6143:Dnmt1	UTSW	9	20927134	missense	probably benign	0.30
R6342:Dnmt1	UTSW	9	20909793	nonsense	probably null
R6374:Dnmt1	UTSW	9	20924045	missense	possibly damaging	0.73
R6953:Dnmt1	UTSW	9	20918526	missense	probably benign
R6990:Dnmt1	UTSW	9	20915814	nonsense	probably null
R7089:Dnmt1	UTSW	9	20908489	missense	probably damaging	0.99
R7463:Dnmt1	UTSW	9	20912225	missense	possibly damaging	0.86
R7522:Dnmt1	UTSW	9	20920202	missense	probably damaging	0.99
R7695:Dnmt1	UTSW	9	20913985	missense	probably null	1.00
X0026:Dnmt1	UTSW	9	20913914	missense	probably damaging	1.00

Posted On

2016-08-02