Incidental Mutation 'R4618:Trmt1l'
ID |
345063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt1l
|
Ensembl Gene |
ENSMUSG00000053286 |
Gene Name |
tRNA methyltransferase 1 like |
Synonyms |
1190005F20Rik, Trm1-like |
MMRRC Submission |
041884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4618 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 151329799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 581
(Q581*)
|
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 null
Transcript: ENSMUST00000065625
AA Change: Q581*
|
SMART Domains |
Protein: ENSMUSP00000068309 Gene: ENSMUSG00000053286 AA Change: Q581*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (89/91) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
T |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
Adamtsl3 |
T |
A |
7: 82,255,728 (GRCm39) |
M1580K |
probably benign |
Het |
Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
Akap3 |
G |
T |
6: 126,843,406 (GRCm39) |
C675F |
probably benign |
Het |
Asap1 |
A |
T |
15: 64,024,744 (GRCm39) |
H318Q |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,542,104 (GRCm39) |
A18S |
probably damaging |
Het |
Bcl2a1a |
A |
C |
9: 88,839,357 (GRCm39) |
N85T |
probably damaging |
Het |
Btnl6 |
G |
A |
17: 34,733,120 (GRCm39) |
P248S |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc14 |
T |
A |
16: 34,526,865 (GRCm39) |
C257S |
probably benign |
Het |
Cd5l |
A |
G |
3: 87,275,926 (GRCm39) |
T299A |
probably benign |
Het |
Cstdc3 |
T |
A |
16: 36,132,952 (GRCm39) |
D76E |
possibly damaging |
Het |
Endou |
C |
T |
15: 97,611,763 (GRCm39) |
V292M |
possibly damaging |
Het |
Fbxo36 |
T |
C |
1: 84,877,749 (GRCm39) |
I137T |
probably damaging |
Het |
Fcer1a |
T |
C |
1: 173,050,208 (GRCm39) |
I161V |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,103 (GRCm39) |
Y4612C |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,111,670 (GRCm39) |
L353* |
probably null |
Het |
Ghrhr |
T |
C |
6: 55,358,739 (GRCm39) |
F172S |
probably damaging |
Het |
Gins1 |
T |
A |
2: 150,759,781 (GRCm39) |
|
probably null |
Het |
Gm16519 |
T |
G |
17: 71,236,237 (GRCm39) |
L62R |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,498,965 (GRCm39) |
T283A |
probably benign |
Het |
Grin2c |
T |
A |
11: 115,143,573 (GRCm39) |
D729V |
probably damaging |
Het |
Heatr4 |
T |
G |
12: 84,024,841 (GRCm39) |
T327P |
probably damaging |
Het |
Hes2 |
A |
C |
4: 152,244,845 (GRCm39) |
S105R |
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,788 (GRCm39) |
D851E |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,472 (GRCm39) |
T785A |
probably benign |
Het |
Lmbr1 |
G |
T |
5: 29,551,863 (GRCm39) |
A74E |
probably damaging |
Het |
Lonp1 |
A |
C |
17: 56,929,511 (GRCm39) |
H175Q |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,531,371 (GRCm39) |
F195S |
probably damaging |
Het |
Man2b2 |
G |
T |
5: 36,974,983 (GRCm39) |
T436K |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,049,439 (GRCm39) |
|
probably null |
Het |
Mrps15 |
G |
A |
4: 125,940,837 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
C |
A |
10: 5,767,586 (GRCm39) |
V177F |
probably benign |
Het |
Naxd |
A |
T |
8: 11,559,489 (GRCm39) |
I213F |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,267,890 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,047 (GRCm39) |
I318V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,858,078 (GRCm39) |
I1297N |
probably damaging |
Het |
Nol10 |
T |
C |
12: 17,398,562 (GRCm39) |
V3A |
probably damaging |
Het |
Nop14 |
G |
T |
5: 34,796,562 (GRCm39) |
P765Q |
probably damaging |
Het |
Noxa1 |
C |
T |
2: 24,981,761 (GRCm39) |
G114D |
probably damaging |
Het |
Ntmt2 |
A |
T |
1: 163,552,597 (GRCm39) |
F10I |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,405,857 (GRCm39) |
W141R |
probably damaging |
Het |
Or10a2 |
G |
A |
7: 106,673,761 (GRCm39) |
C242Y |
probably damaging |
Het |
Or13p4 |
A |
T |
4: 118,546,667 (GRCm39) |
|
probably benign |
Het |
Or5d18 |
A |
G |
2: 87,864,898 (GRCm39) |
V195A |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,618 (GRCm39) |
I174T |
possibly damaging |
Het |
Pde4d |
A |
T |
13: 110,070,411 (GRCm39) |
M7L |
probably benign |
Het |
Phykpl |
G |
A |
11: 51,483,056 (GRCm39) |
A188T |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,403,078 (GRCm39) |
V2260D |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,395,765 (GRCm39) |
E1136G |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,420 (GRCm39) |
L353Q |
probably damaging |
Het |
Rfx4 |
G |
T |
10: 84,716,760 (GRCm39) |
A425S |
probably benign |
Het |
Rnf38 |
A |
G |
4: 44,142,450 (GRCm39) |
S169P |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,376,347 (GRCm39) |
V305F |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,523,883 (GRCm39) |
K164E |
probably benign |
Het |
Sirt6 |
A |
G |
10: 81,462,408 (GRCm39) |
L37P |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,361,962 (GRCm39) |
T141A |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,227,946 (GRCm39) |
T1563S |
probably benign |
Het |
Tbc1d14 |
A |
C |
5: 36,687,725 (GRCm39) |
|
probably benign |
Het |
Tbrg4 |
G |
A |
11: 6,570,185 (GRCm39) |
|
probably benign |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,400,913 (GRCm39) |
L38Q |
probably benign |
Het |
Trhr |
A |
G |
15: 44,061,037 (GRCm39) |
N186D |
probably benign |
Het |
Tsen54 |
T |
A |
11: 115,706,247 (GRCm39) |
|
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,542,257 (GRCm39) |
I138T |
possibly damaging |
Het |
Usp22 |
A |
G |
11: 61,052,269 (GRCm39) |
S237P |
probably damaging |
Het |
Vmn1r209 |
A |
G |
13: 22,990,619 (GRCm39) |
S24P |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,424 (GRCm39) |
H233Q |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,436 (GRCm39) |
I284N |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,644,296 (GRCm39) |
I705V |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zdhhc11 |
T |
A |
13: 74,127,349 (GRCm39) |
M242K |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
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 |
|
IGL03150:Trmt1l
|
APN |
1 |
151,329,643 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACATTTCTTTTCCAGGTCAAGTTCC -3'
(R):5'- AGGGTGACAGGCTTTGCAG -3'
Sequencing Primer
(F):5'- AGGTCAAGTTCCCTTTTCAATACTGG -3'
(R):5'- AGTGTATGCCCAGCACTCTG -3'
|
Posted On |
2015-09-25 |