Incidental Mutation 'R6333:Trmt1l'
| ID |
513215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
044487-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151329685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 543
(S543T)
|
| 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: S543T
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: S543T
| 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 |
0.2776 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.9%
- 20x: 93.2%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
T |
C |
9: 15,203,372 (GRCm39) |
K111R |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,218 (GRCm39) |
Y354C |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,774,427 (GRCm39) |
I424V |
possibly damaging |
Het |
| AI182371 |
A |
T |
2: 34,975,281 (GRCm39) |
I306K |
probably damaging |
Het |
| Asb4 |
G |
A |
6: 5,423,597 (GRCm39) |
R248H |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,071,819 (GRCm39) |
T349A |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,428,944 (GRCm39) |
|
probably null |
Het |
| Cep85l |
G |
A |
10: 53,225,197 (GRCm39) |
Q131* |
probably null |
Het |
| Chmp2b |
T |
A |
16: 65,337,136 (GRCm39) |
M178L |
possibly damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,355 (GRCm39) |
N84D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,637 (GRCm39) |
|
probably null |
Het |
| Defa34 |
T |
C |
8: 22,155,862 (GRCm39) |
V17A |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,653,856 (GRCm39) |
L947Q |
probably damaging |
Het |
| Dynlt2a1 |
G |
A |
17: 15,261,717 (GRCm39) |
|
probably benign |
Het |
| Ell |
A |
G |
8: 71,044,188 (GRCm39) |
Y578C |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,135 (GRCm39) |
M49L |
probably benign |
Het |
| Fbxw19 |
A |
T |
9: 109,323,751 (GRCm39) |
W75R |
probably benign |
Het |
| Fcgr4 |
A |
G |
1: 170,856,838 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm13030 |
A |
T |
4: 138,598,708 (GRCm39) |
|
probably null |
Het |
| Hdac9 |
T |
C |
12: 34,102,323 (GRCm39) |
M1058V |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,540 (GRCm39) |
F253S |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,289,266 (GRCm39) |
Y3794H |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,177,208 (GRCm39) |
T207M |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,249,382 (GRCm39) |
T304A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,148,275 (GRCm39) |
L2657P |
probably damaging |
Het |
| Nufip1 |
A |
C |
14: 76,349,425 (GRCm39) |
K152N |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,331,860 (GRCm39) |
V381A |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,791,778 (GRCm39) |
T30A |
probably damaging |
Het |
| Plrg1 |
A |
G |
3: 82,964,102 (GRCm39) |
T12A |
probably damaging |
Het |
| Ppig |
C |
T |
2: 69,579,902 (GRCm39) |
H479Y |
unknown |
Het |
| Prokr2 |
A |
G |
2: 132,215,898 (GRCm39) |
F188L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,150 (GRCm39) |
N130S |
probably benign |
Het |
| Ptar1 |
G |
A |
19: 23,671,686 (GRCm39) |
D30N |
possibly damaging |
Het |
| Rai14 |
G |
T |
15: 10,575,022 (GRCm39) |
Y645* |
probably null |
Het |
| Rnasek |
T |
C |
11: 70,129,252 (GRCm39) |
Y67C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,354,192 (GRCm39) |
V4023A |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Sctr |
T |
C |
1: 119,984,182 (GRCm39) |
F357L |
probably damaging |
Het |
| Sec14l5 |
G |
A |
16: 4,984,908 (GRCm39) |
V85I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,989,565 (GRCm39) |
T447M |
probably damaging |
Het |
| Sirpd |
T |
C |
3: 15,385,671 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spag8 |
T |
C |
4: 43,653,186 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,736 (GRCm39) |
D358G |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,423,331 (GRCm39) |
T672A |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,322,821 (GRCm39) |
Q43* |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,432,494 (GRCm39) |
F810S |
probably damaging |
Het |
| Vmn2r104 |
C |
T |
17: 20,249,848 (GRCm39) |
V808I |
probably benign |
Het |
| Zfp3 |
T |
A |
11: 70,662,266 (GRCm39) |
I75N |
probably benign |
Het |
| Zwint |
A |
G |
10: 72,490,784 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- CCTGATTTTCAGTATTATTCTAGCCC -3'
(R):5'- CACTAAGAAGGGTTACTTAAAGCATAT -3'
Sequencing Primer
(F):5'- TTCCAAAGGTCCGGAGTTCAAATC -3'
(R):5'- GCATGAGTTGAACACTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation