Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Trmt1l'

351090

Institutional Source

Beutler Lab

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

Trm1-like, 1190005F20Rik

MMRRC Submission

041828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151428542-151458161 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 151454048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 581 (Q581*)

Ref Sequence

ENSEMBL: ENSMUSP00000068309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065625] [ENSMUST00000189655] [ENSMUST00000190070]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000065625
AA Change: Q581*

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: Q581*

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: 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

probably benign
Transcript: ENSMUST00000190070

SMART Domains

Protein: ENSMUSP00000139676
Gene: ENSMUSG00000026484

Domain	Start	End	E-Value	Type
Blast:RING	1	35	7e-16	BLAST
PDB:3H8H\|A	73	156	2e-56	PDB

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,334	I363V	probably benign	Het
Acaa1a	T	A	9: 119,348,940	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,021,391	C156R	probably damaging	Het
Als2cr12	A	T	1: 58,661,442	D301E	probably benign	Het
Arhgap11a	G	A	2: 113,834,078	T620M	probably benign	Het
Brinp1	A	G	4: 68,762,961	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,355,754	I760V	probably benign	Het
Cdh26	G	A	2: 178,460,642		probably benign	Het
Cpd	A	G	11: 76,840,615	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,254,018	Y670H	probably damaging	Het
Disp2	G	A	2: 118,790,162	M458I	probably benign	Het
Dot1l	T	C	10: 80,785,084	I563T	probably damaging	Het
Egf	A	T	3: 129,690,793	S1001T	probably benign	Het
Elfn1	A	G	5: 139,972,009	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,862,204	T725I	probably benign	Het
Fam168b	A	G	1: 34,819,982	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,217,563	S443N	probably damaging	Het
Flrt2	T	C	12: 95,780,229	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,495,981	S58P	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8906	T	C	5: 11,503,831	S7P	probably benign	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Kdelc1	A	C	1: 44,110,020	F453V	probably damaging	Het
Lpcat2b	T	C	5: 107,433,999	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 24,904,787	P587L	probably damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrpl38	T	C	11: 116,132,452	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,046	E430G	probably damaging	Het
Mup18	T	A	4: 61,671,917	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,325,885	R31G	probably benign	Het
Olfr275	A	T	4: 52,825,399	M1L	probably benign	Het
Pcdh1	C	A	18: 38,197,860	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,738,500	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,769,842	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Ptprn	T	A	1: 75,252,287	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,020,356	W97R	probably damaging	Het
Rnf10	T	A	5: 115,248,703	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec24b	A	T	3: 130,040,764	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,912,020	N100S	probably benign	Het
Stam2	A	T	2: 52,715,704	D167E	probably benign	Het
Stambp	G	A	6: 83,561,978	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,170,904	V556A	possibly damaging	Het
Tll2	T	C	19: 41,098,636	D592G	probably benign	Het
Tmem199	A	T	11: 78,509,682		probably benign	Het
Traip	T	A	9: 107,970,019	N352K	probably benign	Het
Usp54	C	A	14: 20,550,338	A1444S	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Xdh	G	A	17: 73,918,394	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,497,676	D83G	probably damaging	Het
Zfp352	A	G	4: 90,225,081	K486R	probably benign	Het
Zfp451	A	G	1: 33,802,671		probably benign	Het
Zfp963	A	T	8: 69,743,294	S170T	probably benign	Het
Zfp970	A	G	2: 177,476,168	I512V	probably benign	Het
Zfp990	A	G	4: 145,537,046	I205V	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAACATTTCTTTTCCAGGTCAAGTTCC -3'
(R):5'- AGAGGGTGACAGGCTTTGC -3'

Sequencing Primer
(F):5'- AGGTCAAGTTCCCTTTTCAATACTGG -3'
(R):5'- AGTGTATGCCCAGCACTCTG -3'

Posted On

2015-10-08