Incidental Mutation 'IGL03014:Trmt1l'
| ID |
453296 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
IGL03014 (G1)
|
| Quality Score |
97 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 151333681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 728
(W728L)
|
| 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 damaging
Transcript: ENSMUST00000065625
AA Change: W728L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: W728L
| 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 |
|
| Meta Mutation Damage Score |
0.3724 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
96% (51/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| AW112010 |
A |
G |
19: 11,025,456 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc134 |
T |
C |
15: 82,014,306 (GRCm39) |
L13P |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,329,861 (GRCm39) |
V395F |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,331 (GRCm39) |
S730* |
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,431,608 (GRCm38) |
*675Q |
probably null |
Het |
| Chrng |
G |
T |
1: 87,138,759 (GRCm39) |
|
probably null |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
T |
4: 128,190,222 (GRCm39) |
M387I |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,594,379 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 25,042,075 (GRCm39) |
P335S |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,351 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,838,739 (GRCm39) |
M292K |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,876,218 (GRCm39) |
Y461C |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,242,901 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,420,393 (GRCm39) |
Y1010F |
probably damaging |
Het |
| Igha |
A |
G |
12: 113,222,713 (GRCm39) |
V236A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,233,932 (GRCm39) |
M377T |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,457,212 (GRCm39) |
T108A |
probably benign |
Het |
| Kcna3 |
A |
T |
3: 106,945,206 (GRCm39) |
M490L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,673,024 (GRCm39) |
Y886F |
possibly damaging |
Het |
| Lcorl |
T |
C |
5: 45,931,371 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Odr4 |
C |
A |
1: 150,258,804 (GRCm39) |
|
probably benign |
Het |
| Or1a1b |
G |
A |
11: 74,097,653 (GRCm39) |
L130F |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,362,753 (GRCm39) |
V289E |
probably null |
Het |
| Pex10 |
A |
G |
4: 155,155,076 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,918,029 (GRCm39) |
V943M |
possibly damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,294 (GRCm39) |
T164S |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,308 (GRCm39) |
L910Q |
probably damaging |
Het |
| Rab1b |
T |
C |
19: 5,154,923 (GRCm39) |
I41V |
probably benign |
Het |
| Scpep1 |
T |
A |
11: 88,824,271 (GRCm39) |
|
probably null |
Het |
| Sergef |
T |
C |
7: 46,240,180 (GRCm39) |
T288A |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,248,726 (GRCm39) |
P397S |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,029,423 (GRCm39) |
D230E |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,002,539 (GRCm39) |
|
probably benign |
Het |
| Smad5 |
T |
C |
13: 56,883,754 (GRCm39) |
L380P |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,532,675 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,500 (GRCm39) |
D346G |
probably benign |
Het |
| Trav7d-4 |
T |
A |
14: 53,007,353 (GRCm39) |
W12R |
unknown |
Het |
| Ubash3a |
C |
A |
17: 31,458,198 (GRCm39) |
T559K |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,711 (GRCm39) |
I246F |
possibly damaging |
Het |
| Zfp618 |
A |
T |
4: 62,998,325 (GRCm39) |
Q109L |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACTCACTTTGACCCAATGG -3'
(R):5'- CCCAGTCAGAAACTTGGCTTC -3'
Sequencing Primer
(F):5'- AATGGGCATCCGTACCGATG -3'
(R):5'- CCAGTCAGAAACTTGGCTTCAAATG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation