Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Trmt1l'

654132

Institutional Source

Beutler Lab

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

Trm1-like, 1190005F20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151428542-151458161 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 151449976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 391 (S391A)

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: S391A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: S391A

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

probably benign
Transcript: ENSMUST00000189655

SMART Domains

Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,770,701	L482S	probably damaging	Het
Abca7	A	T	10: 80,006,161	T1043S	probably benign	Het
Acadvl	T	A	11: 70,011,728	K410*	probably null	Het
Adam8	C	T	7: 139,987,849	G354D	probably benign	Het
Ahctf1	T	C	1: 179,762,610	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,274,589	Q949K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Ccdc141	T	A	2: 77,059,550	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cyp4a30b	C	A	4: 115,457,775	Q185K	probably benign	Het
Dlx2	A	T	2: 71,545,538	I147K	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Dock7	C	A	4: 99,083,029	V100F		Het
Dspp	C	A	5: 104,177,296	D508E	unknown	Het
Duox2	G	T	2: 122,298,155	T4K	probably benign	Het
Ear1	T	C	14: 43,819,247	N55D	probably damaging	Het
Echdc1	G	C	10: 29,334,246	E179Q	probably damaging	Het
Ehbp1	T	C	11: 22,096,109	M547V	possibly damaging	Het
Erbb2	A	G	11: 98,428,972	N630S	possibly damaging	Het
Fam227a	G	A	15: 79,630,070	S363L	possibly damaging	Het
Fam98b	A	G	2: 117,270,900	R398G	unknown	Het
Fsip2	G	A	2: 82,977,086	D1250N	probably benign	Het
Gdnf	G	T	15: 7,834,653	E182*	probably null	Het
Gys2	T	C	6: 142,461,195	H145R	probably benign	Het
Hcls1	A	G	16: 36,946,641	K69R	probably benign	Het
Itih5	A	G	2: 10,235,058	N332S	probably benign	Het
Kcnb2	T	A	1: 15,312,710	Y87N	probably damaging	Het
Lrriq3	A	G	3: 155,188,236	N525D	probably damaging	Het
Lsg1	A	T	16: 30,561,751	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,072	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814	Y81H	probably damaging	Het
Nup54	T	G	5: 92,425,746	N199T	probably benign	Het
Olfr1136	A	T	2: 87,693,744	I46N	probably damaging	Het
Olfr1261	C	T	2: 89,994,004	L204F	probably benign	Het
Olfr39	T	A	9: 20,286,041	L122*	probably null	Het
Olfr727	T	C	14: 50,127,147	I190T	probably benign	Het
Olfr91	A	G	17: 37,093,772	L34P	probably damaging	Het
Pcnt	G	A	10: 76,420,205	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462	F13L	possibly damaging	Het
Pih1d3	T	A	1: 31,223,268	D110E	probably damaging	Het
Plcb1	T	C	2: 135,250,052		probably null	Het
Ppfibp1	T	C	6: 147,000,950	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,055,262	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,625,556	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,955,133	L1133P	probably benign	Het
Slc16a1	G	T	3: 104,652,833	M151I	probably benign	Het
Tarm1	G	T	7: 3,497,521	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,855,577	I47T	probably damaging	Het
Tmod3	T	C	9: 75,529,398	D85G	probably damaging	Het
Trbv14	T	C	6: 41,135,365	L32P	probably benign	Het
Trim16	T	C	11: 62,850,588	L486P	probably benign	Het
Ush2a	T	A	1: 188,850,057	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 20,846,608	A20S	probably benign	Het
Wdr76	A	G	2: 121,510,698	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,580,678	L141S	probably benign	Het
Zfp988	A	G	4: 147,332,351	D414G	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
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
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
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'- TGCAAACGTTGAATCCATGATT -3'
(R):5'- ATAGTAGGTGCACCATTGGC -3'

Sequencing Primer
(F):5'- GGATCTCACTTTGTAGACCAGGC -3'
(R):5'- GCACCATTGGCAGTTTGGTACC -3'

Posted On

2020-10-20