Mutagenetix > Incidental Mutation

Incidental Mutation 'R9001:Trmt5'

684987

Institutional Source

Beutler Lab

Gene Symbol

Trmt5

Ensembl Gene

ENSMUSG00000034442

Gene Name

TRM5 tRNA methyltransferase 5

Synonyms

2610027O18Rik

MMRRC Submission

068832-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R9001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73326785-73333484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73331643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 138 (M138V)

Ref Sequence

ENSEMBL: ENSMUSP00000112121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000101313] [ENSMUST00000116420] [ENSMUST00000122920] [ENSMUST00000126488] [ENSMUST00000140523] [ENSMUST00000153941] [ENSMUST00000220701] [ENSMUST00000221189]

AlphaFold

Q9D0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000058139

SMART Domains

Protein: ENSMUSP00000057153
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	122	9.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101313

SMART Domains

Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	1	69	4.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116420
AA Change: M138V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: M138V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122920

SMART Domains

Protein: ENSMUSP00000124386
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	113	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126488

SMART Domains

Protein: ENSMUSP00000118374
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	122	9.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140523

SMART Domains

Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	452	2.5e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153941

SMART Domains

Protein: ENSMUSP00000114870
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	124	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220701

Predicted Effect

probably benign
Transcript: ENSMUST00000221189
AA Change: M86V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,176 (GRCm39)	R26G	probably damaging	Het
Aldh1a2	A	G	9: 71,192,462 (GRCm39)	N439S	probably damaging	Het
Arfgef3	C	T	10: 18,522,476 (GRCm39)	E517K	probably benign	Het
Arhgap29	A	T	3: 121,775,523 (GRCm39)	I89L	probably benign	Het
Btbd3	G	A	2: 138,122,296 (GRCm39)	V149I	possibly damaging	Het
Chst5	T	A	8: 112,616,534 (GRCm39)	H362L	probably benign	Het
Cmtm2a	A	G	8: 105,019,376 (GRCm39)	V71A	probably benign	Het
Col6a4	T	A	9: 105,944,370 (GRCm39)	I1035F	probably benign	Het
Csmd2	T	C	4: 128,308,079 (GRCm39)	V1279A		Het
Csmd3	A	T	15: 47,596,901 (GRCm39)	V1068E		Het
Ddx50	T	C	10: 62,475,728 (GRCm39)	Y331C	probably benign	Het
Dhx30	A	G	9: 109,916,623 (GRCm39)	Y631H	probably damaging	Het
Dnah10	G	A	5: 124,852,515 (GRCm39)	G1915S	probably damaging	Het
Dop1a	A	G	9: 86,436,374 (GRCm39)	*2463W	probably null	Het
Dst	G	T	1: 34,213,292 (GRCm39)	V1395F	possibly damaging	Het
Dzip1l	T	C	9: 99,523,907 (GRCm39)		probably null	Het
Eef1akmt3	T	C	10: 126,877,232 (GRCm39)	E11G	probably benign	Het
Elfn2	A	G	15: 78,557,438 (GRCm39)	F370L	probably benign	Het
Enam	T	A	5: 88,637,388 (GRCm39)	F104Y	probably benign	Het
Esd	A	G	14: 74,983,123 (GRCm39)	E258G	probably benign	Het
Fam181b	G	A	7: 92,730,356 (GRCm39)	A377T	unknown	Het
Gabrr3	A	G	16: 59,282,008 (GRCm39)	I454M	probably benign	Het
Ggt5	T	A	10: 75,445,992 (GRCm39)	V462D	probably benign	Het
Gm3250	T	C	10: 77,618,178 (GRCm39)	S67G	unknown	Het
Grn	A	T	11: 102,327,497 (GRCm39)	Y286F		Het
Gulp1	A	G	1: 44,827,709 (GRCm39)	I284V	probably benign	Het
Ilf2	A	G	3: 90,390,108 (GRCm39)	N140S	probably benign	Het
Ints4	C	A	7: 97,190,276 (GRCm39)	P925Q	possibly damaging	Het
Khdc1b	A	G	1: 21,454,560 (GRCm39)	N88D	possibly damaging	Het
Kif15	T	G	9: 122,826,855 (GRCm39)	C798G	probably benign	Het
Ktn1	T	A	14: 47,910,409 (GRCm39)	V285E	probably damaging	Het
Lrif1	A	G	3: 106,641,860 (GRCm39)	S59G	probably benign	Het
Mpdz	A	G	4: 81,299,999 (GRCm39)	M333T	probably benign	Het
Mrm3	A	G	11: 76,141,234 (GRCm39)	D414G	probably benign	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mtpap	A	G	18: 4,380,831 (GRCm39)	N170D	probably benign	Het
Nelfb	C	A	2: 25,096,287 (GRCm39)	R274L	probably damaging	Het
Or56a3b	T	G	7: 104,771,447 (GRCm39)	V261G	probably damaging	Het
Pkm	A	G	9: 59,572,626 (GRCm39)	N44S	probably benign	Het
Rel	T	C	11: 23,698,855 (GRCm39)	D144G	probably damaging	Het
Scgb2b21	A	T	7: 33,218,956 (GRCm39)		probably benign	Het
Serpinb1b	T	A	13: 33,277,743 (GRCm39)	D325E	probably benign	Het
Slco4c1	A	G	1: 96,748,956 (GRCm39)	C654R	probably damaging	Het
Srgap2	T	C	1: 131,291,798 (GRCm39)	K143R	probably damaging	Het
Szt2	G	A	4: 118,235,529 (GRCm39)	H2034Y	unknown	Het
Thbs2	T	C	17: 14,889,007 (GRCm39)	D1164G	probably damaging	Het
Tnfrsf10b	T	C	14: 70,015,250 (GRCm39)	S243P	possibly damaging	Het
Tnxb	T	A	17: 34,922,410 (GRCm39)	S2408T	probably benign	Het
Topors	A	T	4: 40,261,696 (GRCm39)	D529E	possibly damaging	Het
Vmn2r81	A	G	10: 79,104,104 (GRCm39)	I242M	possibly damaging	Het
Zfp523	A	G	17: 28,408,915 (GRCm39)	Q21R	possibly damaging	Het
Zfp646	T	A	7: 127,478,856 (GRCm39)	N344K	probably damaging	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
IGL02502:Trmt5	APN	12	73,328,001 (GRCm39)	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGGTGTGCAATATGCCC -3'
(R):5'- CCTCTGACGTTCGAGGAATGAG -3'

Sequencing Primer
(F):5'- GTGTGCAATATGCCCAACCCTG -3'
(R):5'- TCTGACGTTCGAGGAATGAGAGAAC -3'

Posted On

2021-10-11