Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Trmt1l'

376708

Institutional Source

Beutler Lab

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

Trm1-like, 1190005F20Rik

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151428542-151458161 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151455004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 591 (T591A)

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 benign
Transcript: ENSMUST00000065625
AA Change: T591A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: T591A

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

0.1278

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,631,177	E119D	probably benign	Het
Alox5	A	T	6: 116,413,850		probably null	Het
Atad5	T	C	11: 80,120,689	V1294A	probably damaging	Het
BB019430	A	G	10: 58,704,043		noncoding transcript	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Catsperb	A	T	12: 101,587,985	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,296,289	I114T	probably damaging	Het
Cecr2	T	C	6: 120,750,916	L340P	probably damaging	Het
Ces2e	T	A	8: 104,927,185	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,326,095	T79K	probably damaging	Het
Cntn4	G	A	6: 106,437,913	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,648,568		probably benign	Het
Ctso	C	T	3: 81,942,381		probably benign	Het
Cyp3a16	C	A	5: 145,452,849	M235I	probably benign	Het
Dll3	A	G	7: 28,296,435	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,688,925	N2928D	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dqx1	C	A	6: 83,061,012	D460E	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,101,164	C438R	probably damaging	Het
Ehd3	T	G	17: 73,805,304	V21G	probably damaging	Het
Ero1lb	G	A	13: 12,604,436	V440I	probably damaging	Het
Fpgt	G	A	3: 155,087,913	A159V	probably damaging	Het
Gcn1l1	T	C	5: 115,576,170	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,997,433	R439W	probably damaging	Het
Gm20767	T	C	13: 120,154,670	V15A	probably damaging	Het
Gm4353	G	C	7: 116,084,413	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,828,252	A224T	probably benign	Het
Helz	T	A	11: 107,637,734		probably benign	Het
Hnf1a	T	C	5: 114,970,673	T58A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kcns1	T	C	2: 164,168,101	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,915,327	E549G	probably benign	Het
Krt9	T	C	11: 100,190,037	I330V	probably benign	Het
Lair1	A	T	7: 4,029,034	S25T	probably benign	Het
Lhx4	T	C	1: 155,705,267	T171A	possibly damaging	Het
Luzp2	A	G	7: 55,167,248	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,507,422	S143T	probably benign	Het
Mcph1	A	G	8: 18,625,558		probably null	Het
Mgat5	G	A	1: 127,469,249	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,161,435	T168M	probably benign	Het
Mospd4	G	T	18: 46,465,737		noncoding transcript	Het
Mroh2a	G	T	1: 88,254,935	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,072,119	V626A	probably damaging	Het
Nat6	C	T	9: 107,583,619	R238C	probably damaging	Het
Ncam1	T	C	9: 49,507,621		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,433,611		probably benign	Het
Ndufv1	T	C	19: 4,012,653		probably null	Het
Nlrp2	A	T	7: 5,298,859	F211L	probably benign	Het
Olfr1368	T	A	13: 21,142,280	Y259F	probably damaging	Het
Olfr1495	T	A	19: 13,768,762	M140K	probably damaging	Het
Olfr517	A	T	7: 108,868,786	F123I	probably damaging	Het
Osbpl11	G	A	16: 33,234,493	V649I	probably benign	Het
Pax8	T	A	2: 24,441,640	M144L	probably benign	Het
Pcnt	T	C	10: 76,369,854	T2555A	probably benign	Het
Plat	T	A	8: 22,768,450	I23K	probably benign	Het
Plpp2	G	A	10: 79,530,929	T51M	probably damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,773,759	M233V	probably benign	Het
Prox1	A	C	1: 190,162,122	F42C	probably damaging	Het
Pwwp2b	A	T	7: 139,256,062	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,865,523	N127K	probably null	Het
Scn1a	T	C	2: 66,328,476	T367A	possibly damaging	Het
Slc23a2	A	G	2: 132,056,880	I579T	possibly damaging	Het
Sp9	T	C	2: 73,273,618	V172A	possibly damaging	Het
Spta1	T	A	1: 174,175,830	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,749,318		probably benign	Het
Synj2	A	T	17: 5,988,068		probably benign	Het
Tgif2-ps2	A	G	17: 40,115,383		noncoding transcript	Het
Tnrc18	A	T	5: 142,765,177	M1216K	unknown	Het
Tpst2	T	A	5: 112,309,821	Y69*	probably null	Het
Tpx2	C	A	2: 152,893,615	A721E	probably benign	Het
Tuba8	T	A	6: 121,226,083		probably benign	Het
Ubiad1	T	C	4: 148,444,099	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,517,284	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,454,109	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,472,498	I624V	probably damaging	Het
Wdr4	A	G	17: 31,499,155	V315A	probably benign	Het
Xpo7	T	C	14: 70,676,816		probably null	Het
Zfp827	T	A	8: 79,060,774	W190R	probably damaging	Het
Zfp971	A	G	2: 178,033,147	T180A	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
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'- CCAACATCAATAGATTGTTTGCCTTTG -3'
(R):5'- TGTAAGTTTCCATTGAAGATGAGC -3'

Sequencing Primer
(F):5'- ACTCAGCCTAAACTGTGTGCG -3'
(R):5'- CTGTATACATTTAGAATGCACTGA -3'

Posted On

2016-03-17