Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Trmt1l'

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283080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

Trm1-like, 1190005F20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

151428542-151458161 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151448484 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 361 (S361P)

Ref Sequence

ENSEMBL: ENSMUSP00000068309 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065625
AA Change: S361P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: S361P

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

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	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
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
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
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
X0039:Trmt1l	UTSW	1	151454990	missense	possibly damaging	0.88
Z1176:Trmt1l	UTSW	1	151453113	missense	possibly damaging	0.72

Posted On

2015-04-16