Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Trmt1l'

18040

Institutional Source

Beutler Lab

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

Trm1-like, 1190005F20Rik

MMRRC Submission

038358-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0067 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

151428542-151458161 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151448380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 326 (V326A)

Ref Sequence

ENSEMBL: ENSMUSP00000068309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065625] [ENSMUST00000189655]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065625
AA Change: V326A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: V326A

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
low complexity region	25	70	N/A	INTRINSIC
ZnF_C2H2	116	142	7.49e0	SMART
ZnF_C2H2	181	203	2.49e-1	SMART
Pfam:TRM	220	563	6.9e-60	PFAM
Pfam:TRM	595	684	6.8e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188843

Predicted Effect

probably benign
Transcript: ENSMUST00000189655

SMART Domains

Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286

Domain	Start	End	E-Value	Type
ZnF_C2H2	28	50	1.1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192826

Meta Mutation Damage Score

0.1180

Coding Region Coverage

1x: 87.3%
3x: 82.3%
10x: 64.1%
20x: 35.8%

Validation Efficiency

96% (73/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and anatomically normal but display significantly impaired motor coordination and aberrant exploratory behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,911,570	V248M	possibly damaging	Het
AW209491	A	T	13: 14,637,743	I394F	probably benign	Het
Cacna1d	A	T	14: 30,075,010		probably benign	Het
Cacna1i	A	T	15: 80,381,172	I1542F	probably damaging	Het
Cep97	A	T	16: 55,915,561	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,860,141		probably benign	Het
Dennd1c	T	C	17: 57,075,465	Q67R	probably damaging	Het
Eva1c	A	T	16: 90,866,417	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,473,996	K95R	probably benign	Het
Gm13941	T	C	2: 111,059,416		noncoding transcript	Het
Gps2	C	T	11: 69,914,781	Q42*	probably null	Het
Hivep1	T	A	13: 42,158,656	D1457E	probably benign	Het
L3mbtl1	A	G	2: 162,948,828	K225E	probably damaging	Het
Limch1	A	G	5: 66,974,622	S143G	probably damaging	Het
Macf1	T	C	4: 123,475,248	K342E	possibly damaging	Het
Mc5r	T	G	18: 68,339,566	M332R	probably damaging	Het
Mcf2l	A	G	8: 13,013,060	T882A	probably benign	Het
Myf6	A	T	10: 107,493,479		probably null	Het
Plekha5	C	T	6: 140,524,903	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,720,641	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,294,820	R246S	probably damaging	Het
Rflnb	A	T	11: 76,022,161	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,867,498		probably null	Het
Satb1	T	C	17: 51,804,336	T165A	probably damaging	Het
Scamp1	T	C	13: 94,204,150	Y237C	probably damaging	Het
Skint10	A	T	4: 112,711,556	F321L	probably benign	Het
Skiv2l2	C	T	13: 112,886,862	V727I	probably benign	Het
Slc8a1	A	G	17: 81,437,759	V672A	probably benign	Het
Spats2	C	A	15: 99,212,287	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,949,340	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,234,243	T241A	probably damaging	Het
Ticrr	A	T	7: 79,677,410	D622V	probably damaging	Het
Ube3c	A	G	5: 29,598,938	T180A	possibly damaging	Het
Unc13a	A	C	8: 71,634,658	F1482V	probably damaging	Het
Unc79	A	G	12: 103,059,518	E388G	probably damaging	Het
Ush2a	A	T	1: 188,964,846	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Zcchc9	T	C	13: 91,797,249	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,423,474	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,428,403	D366G	possibly damaging	Het

Other mutations in Trmt1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Trmt1l	APN	1	151442712	critical splice donor site	probably null
IGL02175:Trmt1l	APN	1	151448484	missense	probably benign	0.00
IGL02348:Trmt1l	APN	1	151450006	missense	probably damaging	1.00
IGL02397:Trmt1l	APN	1	151439531	missense	probably damaging	1.00
IGL02582:Trmt1l	APN	1	151433785	splice site	probably benign
IGL03150:Trmt1l	APN	1	151453892	missense	probably benign	0.00
IGL03220:Trmt1l	APN	1	151440941	splice site	probably benign
Canyonlands	UTSW	1	151454048	nonsense	probably null
splendiforous	UTSW	1	151453148	missense	probably damaging	1.00
IGL03014:Trmt1l	UTSW	1	151457930	missense	probably damaging	0.99
R0067:Trmt1l	UTSW	1	151448380	missense	probably benign	0.16
R0240:Trmt1l	UTSW	1	151457454	unclassified	probably benign
R0267:Trmt1l	UTSW	1	151457675	unclassified	probably benign
R2084:Trmt1l	UTSW	1	151440854	missense	probably damaging	1.00
R2206:Trmt1l	UTSW	1	151435843	critical splice donor site	probably null
R2338:Trmt1l	UTSW	1	151428959	intron	probably benign
R2408:Trmt1l	UTSW	1	151439516	missense	possibly damaging	0.48
R2429:Trmt1l	UTSW	1	151433830	missense	probably damaging	1.00
R2520:Trmt1l	UTSW	1	151453945	missense	probably benign	0.14
R3972:Trmt1l	UTSW	1	151433883	missense	possibly damaging	0.91
R4092:Trmt1l	UTSW	1	151455033	missense	probably benign	0.18
R4361:Trmt1l	UTSW	1	151435875	intron	probably benign
R4411:Trmt1l	UTSW	1	151452154	missense	probably benign	0.02
R4419:Trmt1l	UTSW	1	151440808	missense	probably damaging	0.98
R4518:Trmt1l	UTSW	1	151448343	nonsense	probably null
R4614:Trmt1l	UTSW	1	151454048	nonsense	probably null
R4617:Trmt1l	UTSW	1	151454048	nonsense	probably null
R4618:Trmt1l	UTSW	1	151454048	nonsense	probably null
R4647:Trmt1l	UTSW	1	151457881	missense	possibly damaging	0.86
R4653:Trmt1l	UTSW	1	151439569	missense	probably benign	0.00
R4734:Trmt1l	UTSW	1	151442637	missense	probably benign	0.32
R4873:Trmt1l	UTSW	1	151455004	missense	probably benign	0.04
R4875:Trmt1l	UTSW	1	151455004	missense	probably benign	0.04
R5026:Trmt1l	UTSW	1	151440876	missense	probably damaging	1.00
R5528:Trmt1l	UTSW	1	151454995	missense	probably benign
R5587:Trmt1l	UTSW	1	151435704	intron	probably benign
R5872:Trmt1l	UTSW	1	151440843	missense	probably damaging	1.00
R6060:Trmt1l	UTSW	1	151457580	missense	possibly damaging	0.78
R6169:Trmt1l	UTSW	1	151428953	intron	probably benign
R6333:Trmt1l	UTSW	1	151453934	missense	probably benign	0.15
R6906:Trmt1l	UTSW	1	151452175	missense	probably benign	0.03
R7269:Trmt1l	UTSW	1	151457788	missense	possibly damaging	0.81
R7574:Trmt1l	UTSW	1	151440840	missense	possibly damaging	0.95
R7740:Trmt1l	UTSW	1	151440888	missense	possibly damaging	0.47
R7760:Trmt1l	UTSW	1	151442674	missense	possibly damaging	0.93
R7984:Trmt1l	UTSW	1	151435738	missense	probably benign	0.02
R8257:Trmt1l	UTSW	1	151428878	start codon destroyed	probably null
R8286:Trmt1l	UTSW	1	151457792	missense	probably damaging	1.00
R8439:Trmt1l	UTSW	1	151449976	missense	probably benign	0.10
R8451:Trmt1l	UTSW	1	151448288	missense	unknown
R8514:Trmt1l	UTSW	1	151453991	missense	probably damaging	0.98
R9287:Trmt1l	UTSW	1	151453148	missense	probably damaging	1.00
R9423:Trmt1l	UTSW	1	151450066	missense	possibly damaging	0.90
R9622:Trmt1l	UTSW	1	151428959	nonsense	probably null
X0039:Trmt1l	UTSW	1	151454990	missense	possibly damaging	0.88
Z1176:Trmt1l	UTSW	1	151453113	missense	possibly damaging	0.72
Z1187:Trmt1l	UTSW	1	151457580	missense	possibly damaging	0.78
Z1189:Trmt1l	UTSW	1	151457580	missense	possibly damaging	0.78
Z1190:Trmt1l	UTSW	1	151457580	missense	possibly damaging	0.78
Z1192:Trmt1l	UTSW	1	151457580	missense	possibly damaging	0.78

Posted On

2013-03-25