Mutagenetix > Incidental Mutation

Incidental Mutation 'R4647:Trmt1l'

350313

Institutional Source

Beutler Lab

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

Trm1-like, 1190005F20Rik

MMRRC Submission

041908-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151428542-151458161 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 151457881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 712 (V712F)

Ref Sequence

ENSEMBL: ENSMUSP00000068309 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065625
AA Change: V712F

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: V712F

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 102,860,909	N132K	possibly damaging	Het
Aatf	T	C	11: 84,471,197	D313G	possibly damaging	Het
Abcb11	T	G	2: 69,285,271	D583A	probably damaging	Het
Adgrv1	A	T	13: 81,528,795	Y1252*	probably null	Het
Aim2	T	C	1: 173,455,524		silent	Het
Angpt1	T	A	15: 42,676,184	Y93F	probably benign	Het
Ankrd27	C	T	7: 35,638,234	P991L	probably benign	Het
Ap1s3	C	T	1: 79,614,203		probably null	Het
Apbb1	A	C	7: 105,565,538	S500A	probably benign	Het
Arc	G	A	15: 74,671,525	A283V	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
C1galt1c1	A	T	X: 38,631,472	S216T	probably benign	Het
C1qtnf4	T	A	2: 90,889,652	S90T	probably damaging	Het
Cachd1	A	T	4: 100,953,130	K310*	probably null	Het
Calhm1	A	G	19: 47,143,801	L125P	probably damaging	Het
Carmil1	G	A	13: 24,137,179	L278F	probably damaging	Het
Ccar1	A	T	10: 62,747,417	Y972*	probably null	Het
Cd163	C	T	6: 124,320,621	P909S	probably damaging	Het
Cd44	T	A	2: 102,837,929	H268L	possibly damaging	Het
Cdkl2	A	T	5: 92,017,213	L517Q	probably damaging	Het
Cep68	G	T	11: 20,239,349	N554K	probably benign	Het
Ces1d	A	G	8: 93,166,410	W515R	probably damaging	Het
Clca4b	A	C	3: 144,928,525	H102Q	probably benign	Het
Cldn15	T	A	5: 136,974,483	I142N	probably damaging	Het
Cmklr1	T	A	5: 113,614,640	D100V	probably damaging	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
D430041D05Rik	G	A	2: 104,258,443	P63S	probably damaging	Het
Ddx39	A	T	8: 83,722,273	H259L	probably benign	Het
Dhx16	C	G	17: 35,885,635	A565G	probably benign	Het
Dimt1	A	T	13: 106,947,655	D50V	probably benign	Het
Dock9	A	T	14: 121,586,246	L1428H	probably damaging	Het
Dpp4	G	T	2: 62,334,605	T700K	probably damaging	Het
E030030I06Rik	T	A	10: 22,148,845	R56S	unknown	Het
Eea1	A	G	10: 96,028,393	T925A	probably benign	Het
Ext1	A	G	15: 53,089,987	S494P	possibly damaging	Het
Fam171a1	G	A	2: 3,220,291	E140K	probably damaging	Het
Fam19a5	T	G	15: 87,720,582	S115A	probably damaging	Het
Fgfr3	C	T	5: 33,734,986		probably benign	Het
Gabra6	A	G	11: 42,307,372	I407T	probably damaging	Het
Gm13089	T	C	4: 143,699,344	M10V	probably benign	Het
Gm16223	C	A	5: 42,214,611	L115M	unknown	Het
Gm4781	G	T	10: 100,397,000		noncoding transcript	Het
Gm9772	T	A	17: 22,007,032	I70F	possibly damaging	Het
Gpr107	T	A	2: 31,210,501	F497Y	probably damaging	Het
Grm7	T	A	6: 110,914,383	Y192*	probably null	Het
Gtf2ird2	G	A	5: 134,216,192	A431T	probably damaging	Het
H2-K2	T	A	17: 33,976,015		noncoding transcript	Het
H2-M11	T	A	17: 36,547,991	V141D	probably benign	Het
Hmcn1	A	G	1: 150,675,511		probably null	Het
Hmcn2	A	T	2: 31,399,019	Q2280L	possibly damaging	Het
Hmg20b	T	A	10: 81,348,582	Q129L	probably damaging	Het
Igfbp7	T	A	5: 77,351,296	Q285L	possibly damaging	Het
Igkv13-85	T	A	6: 68,930,736		probably benign	Het
Inpp5e	A	T	2: 26,407,914	L225H	probably benign	Het
Inpp5f	T	A	7: 128,659,109	V91E	possibly damaging	Het
Khdc3	A	G	9: 73,102,586	E26G	possibly damaging	Het
Klra5	T	A	6: 129,899,376	D156V	probably damaging	Het
Kmo	C	A	1: 175,659,774	Y430*	probably null	Het
Lbx2	A	G	6: 83,088,046	D188G	probably damaging	Het
Lcorl	A	T	5: 45,733,589	L474*	probably null	Het
Lnx1	C	T	5: 74,610,796	V350I	probably benign	Het
Lrrc45	T	A	11: 120,719,121	S464T	probably benign	Het
Ltc4s	T	A	11: 50,237,225	T61S	probably benign	Het
Luc7l3	A	C	11: 94,309,641	N50K	probably damaging	Het
Ly75	G	A	2: 60,308,278	T1415M	probably damaging	Het
Macf1	T	C	4: 123,473,627	E2447G	probably benign	Het
Map3k21	A	G	8: 125,942,111	D812G	probably benign	Het
Mbtd1	C	T	11: 93,924,611	H342Y	probably damaging	Het
Mest	C	T	6: 30,745,110	R226*	probably null	Het
Mindy1	A	T	3: 95,282,743		probably benign	Het
Mmp13	A	T	9: 7,274,233	D180V	probably damaging	Het
Mn1	A	G	5: 111,420,083	T640A	probably benign	Het
Msi2	T	C	11: 88,718,038	H18R	possibly damaging	Het
Myo18a	T	A	11: 77,817,950	V61E	probably damaging	Het
Myo19	T	G	11: 84,894,642	I237S	probably damaging	Het
Ncaph2	T	A	15: 89,370,432	L416Q	probably damaging	Het
Nlrp1a	T	A	11: 71,097,126		probably null	Het
Olfr1450	A	G	19: 12,954,077	I163V	probably benign	Het
Olfr282	G	T	15: 98,437,576	V36F	probably benign	Het
Olfr353	A	G	2: 36,890,651	F66L	probably benign	Het
Olfr559	A	G	7: 102,724,092	S133P	probably damaging	Het
Olfr710	A	T	7: 106,944,340	N220K	probably benign	Het
Padi2	T	C	4: 140,944,446	F495S	probably damaging	Het
Pan3	G	T	5: 147,527,203	D535Y	probably damaging	Het
Paqr3	T	A	5: 97,108,210	R102*	probably null	Het
Patl1	T	A	19: 11,914,434	D34E	probably damaging	Het
Pcdha6	A	T	18: 36,969,136	T461S	probably damaging	Het
Pcnt	T	C	10: 76,354,213	S2830G	probably benign	Het
Pdgfa	G	A	5: 138,979,184	T181I	probably benign	Het
Pds5a	C	A	5: 65,656,318	D275Y	probably damaging	Het
Plod2	T	A	9: 92,605,450	Y607*	probably null	Het
Pomt2	G	T	12: 87,118,083	T517K	possibly damaging	Het
Prdm1	T	C	10: 44,439,690	T817A	probably damaging	Het
Prdm2	T	C	4: 143,132,955	D1255G	possibly damaging	Het
Prex2	T	A	1: 11,162,285	C859S	probably damaging	Het
Ralgapa2	A	T	2: 146,387,629	M1077K	possibly damaging	Het
Ralgds	T	C	2: 28,545,520		probably null	Het
Rasa3	T	C	8: 13,588,865	E314G	probably null	Het
Rasa4	T	A	5: 136,101,363	D324E	probably damaging	Het
Rbm46	A	T	3: 82,864,458	D283E	probably benign	Het
Rnf139	A	T	15: 58,899,987	L620F	probably benign	Het
Rptor	T	A	11: 119,891,163	N1105K	probably benign	Het
Scaf11	A	T	15: 96,420,100		probably null	Het
Sectm1b	A	T	11: 121,055,934	V45E	probably damaging	Het
Selenon	A	G	4: 134,545,657	W157R	probably damaging	Het
Sema3b	C	A	9: 107,599,051	R657L	possibly damaging	Het
Setd1b	C	T	5: 123,148,112	A407V	unknown	Het
Sh3tc1	C	T	5: 35,706,318	A842T	probably damaging	Het
Shank2	A	G	7: 144,411,829	E1268G	probably damaging	Het
Shmt1	G	A	11: 60,801,465	S155F	probably damaging	Het
Sim2	A	G	16: 94,123,526	E510G	possibly damaging	Het
Slc25a46	A	T	18: 31,600,192	I168N	probably damaging	Het
Slc26a4	T	G	12: 31,540,526	D376A	possibly damaging	Het
Slfn14	G	T	11: 83,276,658	A677E	probably benign	Het
Slk	G	T	19: 47,620,274	Q555H	possibly damaging	Het
Synj1	A	T	16: 90,973,989	D517E	probably damaging	Het
Syvn1	G	A	19: 6,051,474	R440Q	probably benign	Het
Tas2r118	A	T	6: 23,969,468	I198N	probably damaging	Het
Tdh	A	G	14: 63,493,756	L323P	possibly damaging	Het
Tet2	A	T	3: 133,488,082	M197K	probably benign	Het
Timeless	A	G	10: 128,239,956	Y19C	possibly damaging	Het
Tnn	T	C	1: 160,146,042	M252V	probably benign	Het
Trdn	G	T	10: 33,195,981	E215*	probably null	Het
Tti1	T	C	2: 158,007,020		probably benign	Het
Ulk4	T	C	9: 121,141,852	H1018R	probably benign	Het
Vim	A	T	2: 13,582,495	H461L	probably benign	Het
Vmn2r118	T	A	17: 55,610,665	E282D	probably damaging	Het
Vmn2r31	T	A	7: 7,384,368	I735F	probably damaging	Het
Vmn2r88	A	G	14: 51,418,793	M829V	probably benign	Het
Washc4	T	A	10: 83,574,543	M665K	possibly damaging	Het
Wbp2	T	A	11: 116,082,381	M67L	probably benign	Het
Wdr81	T	A	11: 75,445,988	E1525V	probably damaging	Het
Xbp1	A	G	11: 5,522,006	D44G	probably damaging	Het
Zfhx4	T	G	3: 5,399,281	F1500V	probably damaging	Het
Zfp286	A	C	11: 62,783,733	Y95*	probably null	Het
Zfp872	A	G	9: 22,199,761	T178A	possibly damaging	Het
Zkscan5	A	G	5: 145,218,830	H364R	possibly damaging	Het
Zp3r	A	T	1: 130,577,960	Y422N	probably damaging	Het
Zscan10	C	T	17: 23,610,340	R542C	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
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'- TTCGCAAGCAGGCTTTCGAG -3'
(R):5'- CCCAGTCAGAAACTTGGCTTC -3'

Sequencing Primer
(F):5'- TCGAGTAAGCCGAACTCACTTTG -3'
(R):5'- CCAGTCAGAAACTTGGCTTCAAATG -3'

Posted On

2015-10-08