Mutagenetix > Incidental Mutation

Incidental Mutation 'R8093:Trmu'

630022

Institutional Source

Beutler Lab

Gene Symbol

Trmu

Ensembl Gene

ENSMUSG00000022386

Gene Name

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

Synonyms

1600025P05Rik, Mtu1, 1110005N20Rik, Trmt1

MMRRC Submission

067525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85763513-85781595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85766921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 43 (D43E)

Ref Sequence

ENSEMBL: ENSMUSP00000023019 (fasta)

Gene Model

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

AlphaFold

Q9DAT5

Predicted Effect

probably benign
Transcript: ENSMUST00000023019
AA Change: D43E

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: D43E

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

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
AA Change: D43E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386
AA Change: D43E

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

100% (60/60)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,669,368 (GRCm39)	T745S	possibly damaging	Het
Abca12	T	C	1: 71,319,552 (GRCm39)	I1777V	probably benign	Het
Abhd6	T	C	14: 8,028,353 (GRCm38)	L28P	probably damaging	Het
Angpt1	T	A	15: 42,339,873 (GRCm39)	E279D	probably benign	Het
Arfgef2	A	G	2: 166,736,577 (GRCm39)	M1750V	probably benign	Het
Atrn	T	C	2: 130,817,908 (GRCm39)	F821L	probably benign	Het
Cbx3	A	G	6: 51,458,748 (GRCm39)	E71G	possibly damaging	Het
Ccdc14	G	A	16: 34,530,022 (GRCm39)	A482T	probably damaging	Het
Cdh15	G	T	8: 123,593,574 (GRCm39)	A723S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,054 (GRCm39)	S488G	probably damaging	Het
Ddx55	C	A	5: 124,694,883 (GRCm39)	H104N	possibly damaging	Het
Det1	G	T	7: 78,493,257 (GRCm39)	T249N	possibly damaging	Het
Disp3	A	G	4: 148,354,973 (GRCm39)	S348P	possibly damaging	Het
Dnah6	T	G	6: 73,137,896 (GRCm39)	N936T	probably damaging	Het
Dnajc11	A	T	4: 152,054,357 (GRCm39)	N188Y	probably damaging	Het
Etaa1	G	A	11: 17,897,559 (GRCm39)	T186I	possibly damaging	Het
Fhip1a	T	C	3: 85,580,111 (GRCm39)	D698G	probably benign	Het
Ftl1-ps1	T	A	13: 74,555,138 (GRCm39)	V139E	probably benign	Het
Fzd10	A	G	5: 128,679,303 (GRCm39)	K341R	probably benign	Het
Galnt7	A	G	8: 57,985,739 (GRCm39)	Y544H	probably benign	Het
Gm21190	T	A	5: 15,730,814 (GRCm39)	I181F	possibly damaging	Het
Gm3604	T	C	13: 62,517,363 (GRCm39)	N332D	probably damaging	Het
Gm47996	G	T	1: 151,086,055 (GRCm39)	E45D	possibly damaging	Het
Gm5475	T	A	15: 100,321,893 (GRCm39)	L14Q	unknown	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr182	T	C	10: 127,586,783 (GRCm39)	Y56C	probably damaging	Het
Gxylt2	T	A	6: 100,710,188 (GRCm39)	W110R	probably damaging	Het
Hivep3	G	T	4: 119,952,632 (GRCm39)	R316L	possibly damaging	Het
Hnf1a	T	C	5: 115,093,336 (GRCm39)	T310A	probably benign	Het
Igkv6-32	A	G	6: 70,051,547 (GRCm39)	F8L	probably benign	Het
Kcnq1	A	G	7: 142,916,389 (GRCm39)	N550D	probably damaging	Het
Lrrc40	T	G	3: 157,757,419 (GRCm39)	Y249*	probably null	Het
Lrrc43	T	A	5: 123,639,192 (GRCm39)	M407K	probably benign	Het
Map2k6	A	C	11: 110,373,411 (GRCm39)	E21D	probably benign	Het
Mcoln1	T	A	8: 3,558,740 (GRCm39)	I246N	possibly damaging	Het
Msantd5f6	A	T	4: 73,321,759 (GRCm39)	V92E	probably damaging	Het
Myh2	A	G	11: 67,079,536 (GRCm39)	K998E	probably damaging	Het
Myo1b	C	T	1: 51,797,034 (GRCm39)		probably null	Het
Numbl	T	A	7: 26,980,461 (GRCm39)	M481K	possibly damaging	Het
Nxpe4	G	T	9: 48,307,852 (GRCm39)	V319F	probably benign	Het
Pam	C	A	1: 97,813,357 (GRCm39)	D358Y	probably damaging	Het
Papola	A	G	12: 105,775,836 (GRCm39)	M251V	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Prelid2	A	G	18: 42,065,700 (GRCm39)	S112P	probably damaging	Het
Ptgfrn	T	C	3: 100,963,753 (GRCm39)	T620A	probably benign	Het
Ptgfrn	C	T	3: 100,980,257 (GRCm39)	R361Q	probably benign	Het
Pygm	T	A	19: 6,436,072 (GRCm39)	M148K	probably damaging	Het
Ren1	T	A	1: 133,287,812 (GRCm39)	I382N	probably damaging	Het
Rev1	T	C	1: 38,114,097 (GRCm39)		probably benign	Het
Sdsl	T	C	5: 120,598,017 (GRCm39)	K159E	probably benign	Het
Serinc4	T	C	2: 121,285,434 (GRCm39)	N203S	possibly damaging	Het
Slc12a2	A	G	18: 58,012,423 (GRCm39)	H182R	probably benign	Het
Sned1	C	A	1: 93,202,387 (GRCm39)	T677K	possibly damaging	Het
Ston2	G	A	12: 91,710,460 (GRCm39)	T3I	probably damaging	Het
Tnf	T	C	17: 35,420,072 (GRCm39)	T77A	probably benign	Het
Trav6-2	G	A	14: 52,905,126 (GRCm39)	G49E	probably benign	Het
Trav7-4	A	T	14: 53,699,140 (GRCm39)	I96F	probably damaging	Het
Uggt1	T	A	1: 36,266,566 (GRCm39)	Q136L	probably damaging	Het
Ugt1a5	T	A	1: 88,094,304 (GRCm39)	Y177*	probably null	Het
Vmn1r126	T	C	7: 21,034,516 (GRCm39)	R293G	probably damaging	Het
Vmn2r89	A	G	14: 51,693,699 (GRCm39)	I350V	probably benign	Het
Vps11	A	T	9: 44,267,529 (GRCm39)	L361Q	probably damaging	Het
Zfp467	A	G	6: 48,420,366 (GRCm39)	L5P	possibly damaging	Het
Zfp652	A	G	11: 95,640,288 (GRCm39)	H71R	probably damaging	Het
Zfp804b	T	C	5: 6,820,082 (GRCm39)	K994E	probably benign	Het

Other mutations in Trmu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Trmu	APN	15	85,767,032 (GRCm39)	missense	probably benign	0.00
IGL02873:Trmu	APN	15	85,781,033 (GRCm39)	splice site	probably null
IGL03375:Trmu	APN	15	85,779,138 (GRCm39)	missense	possibly damaging	0.65
R0592:Trmu	UTSW	15	85,781,027 (GRCm39)	unclassified	probably benign
R0781:Trmu	UTSW	15	85,763,604 (GRCm39)	nonsense	probably null
R1120:Trmu	UTSW	15	85,774,486 (GRCm39)	missense	possibly damaging	0.75
R1165:Trmu	UTSW	15	85,776,875 (GRCm39)	missense	probably damaging	0.99
R1443:Trmu	UTSW	15	85,781,302 (GRCm39)	splice site	probably null
R1503:Trmu	UTSW	15	85,779,220 (GRCm39)	missense	possibly damaging	0.88
R4626:Trmu	UTSW	15	85,779,186 (GRCm39)	missense	possibly damaging	0.96
R4790:Trmu	UTSW	15	85,767,006 (GRCm39)	missense	probably damaging	1.00
R5134:Trmu	UTSW	15	85,780,556 (GRCm39)	splice site	probably null
R5399:Trmu	UTSW	15	85,780,609 (GRCm39)	splice site	probably null
R5639:Trmu	UTSW	15	85,766,899 (GRCm39)	missense	probably damaging	1.00
R6831:Trmu	UTSW	15	85,779,207 (GRCm39)	missense	probably benign
R8276:Trmu	UTSW	15	85,766,932 (GRCm39)	missense	possibly damaging	0.88
R9163:Trmu	UTSW	15	85,781,096 (GRCm39)	missense	probably benign	0.00
RF007:Trmu	UTSW	15	85,776,770 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAAATGTAAGCCAGGCCCTAGG -3'
(R):5'- TGGAGAAGCACTGACTGTTCC -3'

Sequencing Primer
(F):5'- GCTACATGACAGCCTTGGATTGC -3'
(R):5'- GCACTGACTGTTCCCAACC -3'

Posted On

2020-06-30