Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03375:Trmu'

420446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmu

Ensembl Gene

ENSMUSG00000022386

Gene Name

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

Synonyms

1600025P05Rik, Trmt1, 1110005N20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

IGL03375

Quality Score

Status

Chromosome

Chromosomal Location

85879312-85897394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85894937 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 262 (Y262N)

Ref Sequence

ENSEMBL: ENSMUSP00000023019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016172] [ENSMUST00000023019] [ENSMUST00000162491]

Predicted Effect

probably benign
Transcript: ENSMUST00000016172

SMART Domains

Protein: ENSMUSP00000016172
Gene: ENSMUSG00000016028

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	65	93	N/A	INTRINSIC
low complexity region	221	240	N/A	INTRINSIC
low complexity region	243	257	N/A	INTRINSIC
CA	282	366	9.51e-26	SMART
CA	390	472	1.59e-27	SMART
CA	496	578	3.8e-25	SMART
CA	602	700	2.25e-27	SMART
CA	724	802	3.14e-17	SMART
CA	826	905	2.67e-29	SMART
CA	929	1012	3.23e-28	SMART
CA	1036	1114	4.17e-22	SMART
CA	1142	1218	6.89e-1	SMART
EGF	1321	1376	3.38e-3	SMART
EGF	1381	1414	5.49e-3	SMART
EGF	1421	1456	9.7e-4	SMART
LamG	1477	1644	2.53e-33	SMART
EGF	1667	1700	6.4e-4	SMART
LamG	1726	1864	1.13e-21	SMART
EGF	1890	1923	1.84e-4	SMART
EGF	1925	1961	5.49e-3	SMART
EGF_Lam	2018	2063	7.12e-11	SMART
HormR	2066	2128	2.55e-20	SMART
Pfam:GAIN	2140	2396	1.1e-64	PFAM
GPS	2422	2475	5.03e-22	SMART
Pfam:7tm_2	2480	2712	2.6e-60	PFAM
low complexity region	2738	2753	N/A	INTRINSIC
low complexity region	2819	2852	N/A	INTRINSIC
low complexity region	2976	2988	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023019
AA Change: Y262N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: Y262N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226840

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	G	16: 38,602,828	S959P	probably damaging	Het
Arrb2	G	A	11: 70,436,179	G24D	probably damaging	Het
Catsper4	A	G	4: 134,218,208	I180T	probably damaging	Het
Chst15	G	A	7: 132,270,457	Q32*	probably null	Het
Cntnap5c	A	T	17: 58,162,205	Y594F	possibly damaging	Het
Cse1l	T	A	2: 166,943,057		probably benign	Het
Dab1	A	T	4: 104,681,601	I201F	possibly damaging	Het
Eif2ak4	T	C	2: 118,422,318	V457A	probably benign	Het
Fkbp1b	T	C	12: 4,838,220		probably benign	Het
Fryl	C	A	5: 73,088,449	V1122F	possibly damaging	Het
Gas2l2	A	G	11: 83,426,210		probably benign	Het
Gm960	T	C	19: 4,698,178	E164G	probably benign	Het
Gstt2	A	T	10: 75,832,821		probably null	Het
Hcst	T	G	7: 30,418,611		probably benign	Het
Hectd4	A	G	5: 121,328,382	E2420G	possibly damaging	Het
Hist2h4	T	C	3: 96,263,142	T55A	possibly damaging	Het
Ifi206	A	T	1: 173,480,778	S551T	probably benign	Het
Itgb3bp	A	G	4: 99,769,487		probably benign	Het
Krtap6-2	A	G	16: 89,419,756	Y108H	unknown	Het
Krtap6-5	T	G	16: 89,047,852		probably benign	Het
Muc5b	A	G	7: 141,861,962	T2882A	possibly damaging	Het
Nup214	C	T	2: 32,010,221	T854M	probably damaging	Het
Olfml2b	A	G	1: 170,649,832	K179E	probably benign	Het
Olfr1281	A	T	2: 111,328,884	H155L	probably damaging	Het
Olfr149	A	G	9: 39,702,575	S65P	probably damaging	Het
Per2	A	T	1: 91,424,228	I852K	possibly damaging	Het
Pkhd1	A	T	1: 20,117,023	I3687N	probably damaging	Het
Slc7a2	A	T	8: 40,916,373	S622C	probably damaging	Het
Smarcc2	G	A	10: 128,482,912	V719I	probably damaging	Het
Syne2	T	C	12: 75,925,435	I1033T	possibly damaging	Het
Tmod1	T	C	4: 46,096,999	I264T	probably damaging	Het
Tmtc3	G	A	10: 100,447,719	A658V	possibly damaging	Het
Tpm3	A	G	3: 90,073,772	E56G	possibly damaging	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Uox	C	T	3: 146,625,835	T213I	probably damaging	Het
Vps13d	A	G	4: 145,091,947	W2R	probably damaging	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
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
R1165:Trmu	UTSW	15	85892674	missense	probably damaging	0.99
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

Posted On

2016-08-02