Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:Trmu'

100973

Institutional Source

Beutler Lab

Gene Symbol

Trmu

Ensembl Gene

ENSMUSG00000022386

Gene Name

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

Synonyms

1600025P05Rik, Trmt1, 1110005N20Rik

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85879312-85897394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85892674 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 196 (T196A)

Ref Sequence

ENSEMBL: ENSMUSP00000023019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023019] [ENSMUST00000162491]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023019
AA Change: T196A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: T196A

Domain	Start	End	E-Value	Type
Pfam:NAD_synthase	1	133	7.7e-7	PFAM
Pfam:ThiI	3	79	7.7e-8	PFAM
Pfam:tRNA_Me_trans	5	383	3.4e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162010

Predicted Effect

probably benign
Transcript: ENSMUST00000162339

SMART Domains

Protein: ENSMUSP00000125266
Gene: ENSMUSG00000022386

Domain	Start	End	E-Value	Type
Pfam:tRNA_Me_trans	1	46	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162491

SMART Domains

Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386

Domain	Start	End	E-Value	Type
Pfam:NAD_synthase	1	88	1.1e-8	PFAM
Pfam:Asn_synthase	1	90	3e-7	PFAM
Pfam:ThiI	3	84	1.6e-10	PFAM
Pfam:tRNA_Me_trans	5	88	2.9e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162601

Meta Mutation Damage Score

0.0969

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous KO is embryonic lethal. Homozygous conditional KO in the liver affects mitochondrial function owing to impaired mt-tRNA modifications. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in Trmu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Trmu	APN	15	85882831	missense	probably benign	0.00
IGL02873:Trmu	APN	15	85896832	splice site	probably null
IGL03375:Trmu	APN	15	85894937	missense	possibly damaging	0.65
R0592:Trmu	UTSW	15	85896826	unclassified	probably benign
R0781:Trmu	UTSW	15	85879403	nonsense	probably null
R1120:Trmu	UTSW	15	85890285	missense	possibly damaging	0.75
R1443:Trmu	UTSW	15	85897101	unclassified	probably null
R1503:Trmu	UTSW	15	85895019	missense	possibly damaging	0.88
R4626:Trmu	UTSW	15	85894985	missense	possibly damaging	0.96
R4790:Trmu	UTSW	15	85882805	missense	probably damaging	1.00
R5134:Trmu	UTSW	15	85896355	splice site	probably null
R5399:Trmu	UTSW	15	85896408	unclassified	probably null
R5639:Trmu	UTSW	15	85882698	missense	probably damaging	1.00
R6831:Trmu	UTSW	15	85895006	missense	probably benign
RF007:Trmu	UTSW	15	85892569	missense	possibly damaging	0.93

Predicted Primers

Posted On

2014-01-15