Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Trmt5'

296116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmt5

Ensembl Gene

ENSMUSG00000034442

Gene Name

TRM5 tRNA methyltransferase 5

Synonyms

2610027O18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

73326785-73333484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73328001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 401 (C401R)

Ref Sequence

ENSEMBL: ENSMUSP00000112121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116420] [ENSMUST00000220701] [ENSMUST00000221189]

AlphaFold

Q9D0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000116420
AA Change: C401R

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: C401R

Domain	Start	End	E-Value	Type
Pfam:Met_10	191	412	4.5e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220701

Predicted Effect

probably benign
Transcript: ENSMUST00000221189

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		probably benign	Het

Other mutations in Trmt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Trmt5	APN	12	73,331,693 (GRCm39)	missense	possibly damaging	0.80
IGL01468:Trmt5	APN	12	73,327,878 (GRCm39)	missense	probably benign	0.08
IGL01681:Trmt5	APN	12	73,329,377 (GRCm39)	unclassified	probably benign
IGL02627:Trmt5	APN	12	73,328,229 (GRCm39)	missense	probably damaging	1.00
IGL02688:Trmt5	APN	12	73,328,232 (GRCm39)	nonsense	probably null
IGL03390:Trmt5	APN	12	73,329,501 (GRCm39)	missense	probably benign	0.30
IGL03391:Trmt5	APN	12	73,328,226 (GRCm39)	missense	probably benign	0.00
R2068:Trmt5	UTSW	12	73,331,444 (GRCm39)	splice site	probably null
R2239:Trmt5	UTSW	12	73,331,888 (GRCm39)	missense	probably benign	0.00
R2380:Trmt5	UTSW	12	73,331,888 (GRCm39)	missense	probably benign	0.00
R5169:Trmt5	UTSW	12	73,329,495 (GRCm39)	missense	probably damaging	1.00
R5578:Trmt5	UTSW	12	73,331,837 (GRCm39)	splice site	probably null
R5579:Trmt5	UTSW	12	73,328,426 (GRCm39)	missense	possibly damaging	0.92
R7390:Trmt5	UTSW	12	73,328,394 (GRCm39)	missense	probably damaging	1.00
R7991:Trmt5	UTSW	12	73,329,439 (GRCm39)	missense	probably damaging	1.00
R9001:Trmt5	UTSW	12	73,331,643 (GRCm39)	missense	probably benign	0.00
R9065:Trmt5	UTSW	12	73,328,038 (GRCm39)	missense	probably damaging	1.00
R9237:Trmt5	UTSW	12	73,331,568 (GRCm39)	missense	probably benign
R9277:Trmt5	UTSW	12	73,329,448 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16