Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Trmu'

537873

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

044941-MU

Accession Numbers

Essential gene?

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

Stock #

R6831 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85763513-85781595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85779207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 285 (T285A)

Ref Sequence

ENSEMBL: ENSMUSP00000023019 (fasta)

Gene Model

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

AlphaFold

Q9DAT5

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

probably benign
Transcript: ENSMUST00000023019
AA Change: T285A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: T285A

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

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 benign
Transcript: ENSMUST00000226840

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,100,675 (GRCm39)	D349E	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Akr1cl	C	T	1: 65,053,831 (GRCm39)		probably null	Het
Alcam	A	G	16: 52,130,264 (GRCm39)	Y29H	probably benign	Het
Alg3	A	T	16: 20,427,497 (GRCm39)	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,363,118 (GRCm39)	L323F	probably damaging	Het
Apcdd1	C	A	18: 63,083,197 (GRCm39)	Y342*	probably null	Het
Aqp9	T	A	9: 71,069,702 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,257,933 (GRCm39)	T1326A	probably damaging	Het
Cacna1a	T	C	8: 85,297,860 (GRCm39)	V1238A	probably damaging	Het
Cep128	T	C	12: 91,233,748 (GRCm39)	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,661 (GRCm39)	G3677R	possibly damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,346,163 (GRCm39)	S25P	probably benign	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,287,847 (GRCm39)	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,195,737 (GRCm39)	I162K	probably benign	Het
Glrx3	C	T	7: 137,060,951 (GRCm39)	T195M	possibly damaging	Het
Gm9949	T	A	18: 62,313,616 (GRCm39)		probably benign	Het
Hbs1l	T	C	10: 21,217,767 (GRCm39)	S228P	probably benign	Het
Hmcn1	G	A	1: 150,646,044 (GRCm39)	T718I	probably benign	Het
Igf1r	T	C	7: 67,857,067 (GRCm39)	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,629,198 (GRCm39)	Y394*	probably null	Het
Itpr2	G	A	6: 146,013,927 (GRCm39)	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,072,496 (GRCm39)	C67*	probably null	Het
Lama1	T	A	17: 68,063,749 (GRCm39)	C758S	possibly damaging	Het
Mdga1	T	A	17: 30,106,490 (GRCm39)	K274*	probably null	Het
Neu2	G	A	1: 87,524,455 (GRCm39)	G147R	probably damaging	Het
Nkx1-1	A	T	5: 33,591,147 (GRCm39)	S58R	unknown	Het
Or2ag16	A	T	7: 106,351,778 (GRCm39)	N272K	probably damaging	Het
Or52e4	A	G	7: 104,706,086 (GRCm39)	D211G	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	A	19: 5,210,823 (GRCm39)	I151F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pclo	C	T	5: 14,838,443 (GRCm39)	Q1417*	probably null	Het
Pkm	G	C	9: 59,582,398 (GRCm39)	M409I	probably benign	Het
Plbd2	T	A	5: 120,631,131 (GRCm39)	K215N	probably benign	Het
Polk	T	C	13: 96,631,999 (GRCm39)	K245E	possibly damaging	Het
Pramel17	T	A	4: 101,694,094 (GRCm39)	Q263L	probably benign	Het
Prl	T	G	13: 27,243,530 (GRCm39)	I65S	probably benign	Het
Proser3	T	C	7: 30,239,781 (GRCm39)	H441R	probably benign	Het
Psmb3	A	G	11: 97,597,728 (GRCm39)	K98R	probably benign	Het
Ptpn20	T	C	14: 33,354,882 (GRCm39)	V319A	probably damaging	Het
Ptprj	A	T	2: 90,290,991 (GRCm39)	Y397N	probably damaging	Het
Rp1	T	C	1: 4,420,087 (GRCm39)		probably null	Het
Sgsm1	T	A	5: 113,428,246 (GRCm39)	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,271,532 (GRCm39)	R244C	probably damaging	Het
Sspo	G	A	6: 48,461,767 (GRCm39)	V3466M	possibly damaging	Het
Syne2	T	A	12: 76,013,568 (GRCm39)	F2921I	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Trmt112	T	A	19: 6,887,563 (GRCm39)	L4H	probably damaging	Het
Ttn	A	G	2: 76,601,846 (GRCm39)		probably null	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zc3hav1	A	T	6: 38,309,103 (GRCm39)	M573K	probably benign	Het
Zcchc8	T	C	5: 123,838,972 (GRCm39)	E522G	probably damaging	Het
Zfp354a	T	C	11: 50,961,381 (GRCm39)	S529P	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	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
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
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'- ACACAGGTGTATGGTTAGGGC -3'
(R):5'- GGTTTTCTAGGAATGGGCACAATG -3'

Sequencing Primer
(F):5'- ACAGGTGTATGGTTAGGGCTAAGC -3'
(R):5'- ACAATGACTGGTGCACTGTC -3'

Posted On

2018-10-18