Mutagenetix > Incidental Mutations

Incidental Mutation 'R7272:Trmt10a'

565343

Institutional Source

Beutler Lab

Gene Symbol

Trmt10a

Ensembl Gene

ENSMUSG00000004127

Gene Name

tRNA methyltransferase 10A

Synonyms

3110023L08Rik, Rg9mtd2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138143448-138159821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138154766 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 241 (M241K)

Ref Sequence

ENSEMBL: ENSMUSP00000042082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040321] [ENSMUST00000161141] [ENSMUST00000162864]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040321
AA Change: M241K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042082
Gene: ENSMUSG00000004127
AA Change: M241K

Domain	Start	End	E-Value	Type
low complexity region	44	82	N/A	INTRINSIC
Pfam:tRNA_m1G_MT	111	277	3.7e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161141

SMART Domains

Protein: ENSMUSP00000125681
Gene: ENSMUSG00000004127

Domain	Start	End	E-Value	Type
low complexity region	44	82	N/A	INTRINSIC
Pfam:tRNA_m1G_MT	111	165	2.6e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162864
AA Change: M241K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125749
Gene: ENSMUSG00000004127
AA Change: M241K

Domain	Start	End	E-Value	Type
low complexity region	44	82	N/A	INTRINSIC
Pfam:tRNA_m1G_MT	111	277	2.7e-33	PFAM

Meta Mutation Damage Score

0.6670

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating magnesium level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,536	I1020T	probably benign	Het
2310057N15Rik	A	T	16: 88,773,635	Y172*	probably null	Het
4930558K02Rik	T	A	1: 161,942,523	Y139F	possibly damaging	Het
A830018L16Rik	T	G	1: 11,588,471	M202R	probably damaging	Het
Abca12	T	C	1: 71,248,432	E2450G	probably damaging	Het
Ank2	C	T	3: 126,943,133	R3034H	unknown	Het
Anxa9	A	G	3: 95,305,873	I54T	probably damaging	Het
Ash1l	A	G	3: 89,054,634		probably null	Het
Aspm	T	C	1: 139,458,328	I570T	probably benign	Het
Bcar3	A	T	3: 122,508,396	I247F	possibly damaging	Het
Cep350	A	G	1: 155,953,588	V130A	probably damaging	Het
Cep89	A	T	7: 35,438,463	R757S	probably benign	Het
Cryga	A	T	1: 65,103,222	I4N	probably damaging	Het
Cyp2d26	T	A	15: 82,792,563	Y194F	probably benign	Het
Edn2	G	A	4: 120,161,946	R44H	probably damaging	Het
Ep400	G	A	5: 110,755,645	Q363*	probably null	Het
Gpr33	T	C	12: 52,024,065	T64A	probably damaging	Het
Ice2	T	A	9: 69,417,083	S763T	possibly damaging	Het
Itgad	C	A	7: 128,205,073	F1169L	probably damaging	Het
Kcnv1	A	G	15: 45,113,180	L237P	probably benign	Het
Kctd18	T	C	1: 57,956,551	E356G	probably damaging	Het
Krt33a	C	T	11: 100,012,011	R329Q	probably damaging	Het
Lama2	C	A	10: 27,124,556	G1657C	probably damaging	Het
March3	T	G	18: 56,762,521	R217S	probably benign	Het
Mmel1	A	T	4: 154,894,090	T660S	probably damaging	Het
Ms4a7	T	A	19: 11,333,278	K59*	probably null	Het
Mss51	G	A	14: 20,484,913	T263I	probably damaging	Het
Ncaph2	A	G	15: 89,364,182	M199V	probably benign	Het
Ndufa4	G	A	6: 11,905,210	Q62*	probably null	Het
Nectin4	A	G	1: 171,386,644	T456A	probably damaging	Het
Nek1	T	C	8: 61,125,086	M1214T	probably benign	Het
Nsf	T	A	11: 103,827,238	L710F	probably damaging	Het
Nynrin	G	T	14: 55,870,415	G993V	probably damaging	Het
Olfr391-ps	T	A	11: 73,798,869	D296V	probably damaging	Het
Pbk	T	A	14: 65,815,172	Y155N	probably damaging	Het
Plec	T	C	15: 76,174,953	I3595V	possibly damaging	Het
Pom121	G	A	5: 135,381,087	T1072I	unknown	Het
Sdc1	T	A	12: 8,790,554	H106Q	probably benign	Het
Slc44a3	T	C	3: 121,461,115	D618G	probably damaging	Het
Slc9c1	A	G	16: 45,581,515	D755G	possibly damaging	Het
Slfn9	T	C	11: 82,981,561	Y783C	probably benign	Het
Sorl1	C	T	9: 42,063,710		probably null	Het
Spindoc	C	T	19: 7,382,720	E28K	possibly damaging	Het
Sptbn1	T	C	11: 30,114,859	D1880G	possibly damaging	Het
Sspn	T	A	6: 145,961,474	D210E	probably benign	Het
Stx12	A	T	4: 132,857,376	I219K	possibly damaging	Het
Syne2	T	C	12: 76,048,643	V508A	probably benign	Het
Tkt	G	T	14: 30,565,607	R186L	probably damaging	Het
Vgll2	C	A	10: 52,027,662	A207E	possibly damaging	Het
Vmn1r114	A	G	7: 20,811,618	F190S	probably damaging	Het
Xpot	C	T	10: 121,617,189		probably null	Het
Yrdc	G	A	4: 124,851,027	A85T	probably benign	Het
Zfp385c	C	T	11: 100,630,039	R265K	possibly damaging	Het
Zgrf1	A	T	3: 127,598,760	I1310F	probably damaging	Het

Other mutations in Trmt10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Trmt10a	APN	3	138147416	missense	probably damaging	0.97
IGL00563:Trmt10a	APN	3	138147416	missense	probably damaging	0.97
IGL00771:Trmt10a	APN	3	138150455	missense	probably benign	0.08
IGL01140:Trmt10a	APN	3	138156698	splice site	probably benign
IGL02869:Trmt10a	APN	3	138152184	splice site	probably null
R0898:Trmt10a	UTSW	3	138149518	missense	probably damaging	1.00
R0975:Trmt10a	UTSW	3	138156809	missense	probably benign	0.41
R1511:Trmt10a	UTSW	3	138152184	splice site	probably null
R1872:Trmt10a	UTSW	3	138156720	missense	probably damaging	1.00
R4856:Trmt10a	UTSW	3	138148385	nonsense	probably null
R4880:Trmt10a	UTSW	3	138152211	missense	possibly damaging	0.64
R4886:Trmt10a	UTSW	3	138148385	nonsense	probably null
R5399:Trmt10a	UTSW	3	138147504	missense	probably damaging	0.97
R5516:Trmt10a	UTSW	3	138152196	missense	possibly damaging	0.91
R5994:Trmt10a	UTSW	3	138156714	missense	probably damaging	1.00
X0028:Trmt10a	UTSW	3	138154795	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAAACGCTCCTACCCGTC -3'
(R):5'- TGAGTCACAGTTTATAGCTAGCTG -3'

Sequencing Primer
(F):5'- CCGTCTTAAACACAGGCTATTGAG -3'
(R):5'- TGAACACATGACTTCTTCC -3'

Posted On

2019-06-26