Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Trmu'

158678

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

039498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85763513-85781595 bp(+) (GRCm39)

Type of Mutation

splice site (1829 bp from exon)

DNA Base Change (assembly)

T to A at 85781302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9DAT5

Predicted Effect

probably null
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

probably damaging
Transcript: ENSMUST00000023019
AA Change: L393H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: L393H

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

noncoding transcript
Transcript: ENSMUST00000162601

Predicted Effect

probably null
Transcript: ENSMUST00000226840

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

probably null
Transcript: ENSMUST00000226204

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	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
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
R8093:Trmu	UTSW	15	85,766,921 (GRCm39)	missense	probably benign	0.08
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'- GCTGACTCTCAATCAGGATGGCAC -3'
(R):5'- CCCCAGACACATGGTCAGACTTTG -3'

Sequencing Primer
(F):5'- CAATCAGGATGGCACTGTGTG -3'
(R):5'- TTTCCTGGAGCAGCAGC -3'

Posted On

2014-03-14