Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01135:Trdmt1'

50599

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trdmt1

Ensembl Gene

ENSMUSG00000026723

Gene Name

tRNA aspartic acid methyltransferase 1

Synonyms

Rnmt2, Dnmt2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

13509014-13544668 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 13521260 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124488] [ENSMUST00000144957]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028055

Predicted Effect

probably null
Transcript: ENSMUST00000124488

SMART Domains

Protein: ENSMUSP00000114572
Gene: ENSMUSG00000026723

Domain	Start	End	E-Value	Type
Pfam:DNA_methylase	4	391	1.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144957

SMART Domains

Protein: ENSMUSP00000141758
Gene: ENSMUSG00000026723

Domain	Start	End	E-Value	Type
Pfam:DNA_methylase	4	84	4.7e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased proportion of natural killer cells in the peripheral blood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Trdmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Trdmt1	APN	2	13519928	missense	probably benign	0.00
IGL02491:Trdmt1	APN	2	13516672	missense	probably benign	0.17
IGL03025:Trdmt1	APN	2	13523435	missense	probably damaging	0.98
R0167:Trdmt1	UTSW	2	13516018	missense	probably damaging	1.00
R0193:Trdmt1	UTSW	2	13544617	missense	probably damaging	1.00
R0638:Trdmt1	UTSW	2	13516648	splice site	probably benign
R0690:Trdmt1	UTSW	2	13544580	missense	probably benign	0.01
R0735:Trdmt1	UTSW	2	13523438	missense	probably benign	0.23
R1102:Trdmt1	UTSW	2	13523414	splice site	probably benign
R1432:Trdmt1	UTSW	2	13519846	missense	probably damaging	0.98
R1610:Trdmt1	UTSW	2	13516059	missense	probably damaging	1.00
R1935:Trdmt1	UTSW	2	13511609	missense	probably damaging	1.00
R1936:Trdmt1	UTSW	2	13511609	missense	probably damaging	1.00
R2060:Trdmt1	UTSW	2	13519914	missense	probably benign	0.01
R2231:Trdmt1	UTSW	2	13525625	missense	probably damaging	1.00
R2339:Trdmt1	UTSW	2	13520060	nonsense	probably null
R3703:Trdmt1	UTSW	2	13521297	missense	probably benign	0.16
R3735:Trdmt1	UTSW	2	13519873	missense	possibly damaging	0.51
R4751:Trdmt1	UTSW	2	13544653	utr 5 prime	probably benign
R6258:Trdmt1	UTSW	2	13520059	missense	probably benign	0.01
R6260:Trdmt1	UTSW	2	13520059	missense	probably benign	0.01
R6799:Trdmt1	UTSW	2	13516013	critical splice donor site	probably null
R7329:Trdmt1	UTSW	2	13516122	missense	probably damaging	1.00

Posted On

2013-06-21