Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03150:Trmt1l'

411065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmt1l

Ensembl Gene

ENSMUSG00000053286

Gene Name

tRNA methyltransferase 1 like

Synonyms

1190005F20Rik, Trm1-like

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03150

Quality Score

Status

Chromosome

Chromosomal Location

151304293-151333912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151329643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 529 (S529P)

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: S529P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: S529P

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,996,596 (GRCm39)	S399L	probably damaging	Het
Bltp1	T	C	3: 37,002,215 (GRCm39)	S1387P	probably damaging	Het
Corin	T	C	5: 72,460,201 (GRCm39)	D886G	probably damaging	Het
Cracd	G	A	5: 77,015,097 (GRCm39)	E57K	probably damaging	Het
Eif2ak3	A	T	6: 70,869,420 (GRCm39)	K702N	possibly damaging	Het
Ercc6	G	T	14: 32,280,531 (GRCm39)	M709I	probably damaging	Het
Foxa1	T	A	12: 57,589,082 (GRCm39)	E379D	probably benign	Het
Fscb	C	T	12: 64,519,204 (GRCm39)	G754D	unknown	Het
Gzmb	C	T	14: 56,497,839 (GRCm39)	V134I	probably benign	Het
Iho1	G	T	9: 108,282,155 (GRCm39)	T511K	probably damaging	Het
Muc5b	A	G	7: 141,419,246 (GRCm39)	T4010A	possibly damaging	Het
Necab3	A	G	2: 154,396,662 (GRCm39)	Y55H	probably damaging	Het
Nova1	T	C	12: 46,747,455 (GRCm39)	N274S	possibly damaging	Het
Nup54	C	A	5: 92,576,023 (GRCm39)	G156V	probably damaging	Het
Obscn	A	T	11: 58,942,549 (GRCm39)	C4317S	probably damaging	Het
Papln	T	A	12: 83,829,758 (GRCm39)	W960R	probably damaging	Het
Pax4	C	A	6: 28,444,338 (GRCm39)	G239W	probably null	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Ptprj	A	G	2: 90,290,955 (GRCm39)	S502P	probably damaging	Het
Slit3	A	G	11: 35,399,084 (GRCm39)	R150G	possibly damaging	Het
Srgap2	A	T	1: 131,238,338 (GRCm39)	V658E	probably damaging	Het
Taar7e	A	T	10: 23,913,528 (GRCm39)	D6V	probably benign	Het
Trim25	T	C	11: 88,890,831 (GRCm39)	C173R	probably damaging	Het
Ubn2	C	T	6: 38,440,649 (GRCm39)	P174S	probably benign	Het
Ubox5	A	G	2: 130,442,060 (GRCm39)	V209A	probably benign	Het
Vmn2r72	A	G	7: 85,400,384 (GRCm39)	F222L	probably damaging	Het
Xpot	C	T	10: 121,445,091 (GRCm39)	A374T	probably benign	Het
Zfp451	A	G	1: 33,816,535 (GRCm39)	C472R	probably damaging	Het
Zfp777	A	G	6: 48,021,059 (GRCm39)	W232R	probably damaging	Het

Other mutations in Trmt1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Trmt1l	APN	1	151,318,463 (GRCm39)	critical splice donor site	probably null
IGL02175:Trmt1l	APN	1	151,324,235 (GRCm39)	missense	probably benign	0.00
IGL02348:Trmt1l	APN	1	151,325,757 (GRCm39)	missense	probably damaging	1.00
IGL02397:Trmt1l	APN	1	151,315,282 (GRCm39)	missense	probably damaging	1.00
IGL02582:Trmt1l	APN	1	151,309,536 (GRCm39)	splice site	probably benign
IGL03220:Trmt1l	APN	1	151,316,692 (GRCm39)	splice site	probably benign
Canyonlands	UTSW	1	151,329,799 (GRCm39)	nonsense	probably null
splendiforous	UTSW	1	151,328,899 (GRCm39)	missense	probably damaging	1.00
IGL03014:Trmt1l	UTSW	1	151,333,681 (GRCm39)	missense	probably damaging	0.99
R0067:Trmt1l	UTSW	1	151,324,131 (GRCm39)	missense	probably benign	0.16
R0067:Trmt1l	UTSW	1	151,324,131 (GRCm39)	missense	probably benign	0.16
R0240:Trmt1l	UTSW	1	151,333,205 (GRCm39)	unclassified	probably benign
R0267:Trmt1l	UTSW	1	151,333,426 (GRCm39)	unclassified	probably benign
R2084:Trmt1l	UTSW	1	151,316,605 (GRCm39)	missense	probably damaging	1.00
R2206:Trmt1l	UTSW	1	151,311,594 (GRCm39)	critical splice donor site	probably null
R2338:Trmt1l	UTSW	1	151,304,710 (GRCm39)	intron	probably benign
R2408:Trmt1l	UTSW	1	151,315,267 (GRCm39)	missense	possibly damaging	0.48
R2429:Trmt1l	UTSW	1	151,309,581 (GRCm39)	missense	probably damaging	1.00
R2520:Trmt1l	UTSW	1	151,329,696 (GRCm39)	missense	probably benign	0.14
R3972:Trmt1l	UTSW	1	151,309,634 (GRCm39)	missense	possibly damaging	0.91
R4092:Trmt1l	UTSW	1	151,330,784 (GRCm39)	missense	probably benign	0.18
R4361:Trmt1l	UTSW	1	151,311,626 (GRCm39)	intron	probably benign
R4411:Trmt1l	UTSW	1	151,327,905 (GRCm39)	missense	probably benign	0.02
R4419:Trmt1l	UTSW	1	151,316,559 (GRCm39)	missense	probably damaging	0.98
R4518:Trmt1l	UTSW	1	151,324,094 (GRCm39)	nonsense	probably null
R4614:Trmt1l	UTSW	1	151,329,799 (GRCm39)	nonsense	probably null
R4617:Trmt1l	UTSW	1	151,329,799 (GRCm39)	nonsense	probably null
R4618:Trmt1l	UTSW	1	151,329,799 (GRCm39)	nonsense	probably null
R4647:Trmt1l	UTSW	1	151,333,632 (GRCm39)	missense	possibly damaging	0.86
R4653:Trmt1l	UTSW	1	151,315,320 (GRCm39)	missense	probably benign	0.00
R4734:Trmt1l	UTSW	1	151,318,388 (GRCm39)	missense	probably benign	0.32
R4873:Trmt1l	UTSW	1	151,330,755 (GRCm39)	missense	probably benign	0.04
R4875:Trmt1l	UTSW	1	151,330,755 (GRCm39)	missense	probably benign	0.04
R5026:Trmt1l	UTSW	1	151,316,627 (GRCm39)	missense	probably damaging	1.00
R5528:Trmt1l	UTSW	1	151,330,746 (GRCm39)	missense	probably benign
R5587:Trmt1l	UTSW	1	151,311,455 (GRCm39)	intron	probably benign
R5872:Trmt1l	UTSW	1	151,316,594 (GRCm39)	missense	probably damaging	1.00
R6060:Trmt1l	UTSW	1	151,333,331 (GRCm39)	missense	possibly damaging	0.78
R6169:Trmt1l	UTSW	1	151,304,704 (GRCm39)	intron	probably benign
R6333:Trmt1l	UTSW	1	151,329,685 (GRCm39)	missense	probably benign	0.15
R6906:Trmt1l	UTSW	1	151,327,926 (GRCm39)	missense	probably benign	0.03
R7269:Trmt1l	UTSW	1	151,333,539 (GRCm39)	missense	possibly damaging	0.81
R7574:Trmt1l	UTSW	1	151,316,591 (GRCm39)	missense	possibly damaging	0.95
R7740:Trmt1l	UTSW	1	151,316,639 (GRCm39)	missense	possibly damaging	0.47
R7760:Trmt1l	UTSW	1	151,318,425 (GRCm39)	missense	possibly damaging	0.93
R7984:Trmt1l	UTSW	1	151,311,489 (GRCm39)	missense	probably benign	0.02
R8257:Trmt1l	UTSW	1	151,304,629 (GRCm39)	start codon destroyed	probably null
R8286:Trmt1l	UTSW	1	151,333,543 (GRCm39)	missense	probably damaging	1.00
R8439:Trmt1l	UTSW	1	151,325,727 (GRCm39)	missense	probably benign	0.10
R8451:Trmt1l	UTSW	1	151,324,039 (GRCm39)	missense	unknown
R8514:Trmt1l	UTSW	1	151,329,742 (GRCm39)	missense	probably damaging	0.98
R9287:Trmt1l	UTSW	1	151,328,899 (GRCm39)	missense	probably damaging	1.00
R9423:Trmt1l	UTSW	1	151,325,817 (GRCm39)	missense	possibly damaging	0.90
R9622:Trmt1l	UTSW	1	151,304,710 (GRCm39)	nonsense	probably null
X0039:Trmt1l	UTSW	1	151,330,741 (GRCm39)	missense	possibly damaging	0.88
Z1176:Trmt1l	UTSW	1	151,328,864 (GRCm39)	missense	possibly damaging	0.72
Z1187:Trmt1l	UTSW	1	151,333,331 (GRCm39)	missense	possibly damaging	0.78
Z1189:Trmt1l	UTSW	1	151,333,331 (GRCm39)	missense	possibly damaging	0.78
Z1190:Trmt1l	UTSW	1	151,333,331 (GRCm39)	missense	possibly damaging	0.78
Z1192:Trmt1l	UTSW	1	151,333,331 (GRCm39)	missense	possibly damaging	0.78

Posted On

2016-08-02