Incidental Mutation 'R8286:Trmt1l'
| ID |
638443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
067708-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8286 (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 151333543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 682
(I682N)
|
| 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: I682N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: I682N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
T |
5: 8,914,119 (GRCm39) |
Y1163F |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,649,920 (GRCm39) |
V589A |
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,972,998 (GRCm39) |
N668I |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,819,275 (GRCm39) |
N6S |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,063 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 96,002,252 (GRCm39) |
V52D |
|
Het |
| Cped1 |
A |
T |
6: 22,254,601 (GRCm39) |
Y998F |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,039,188 (GRCm39) |
V2390A |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,148,330 (GRCm39) |
C321* |
probably null |
Het |
| Dip2a |
A |
C |
10: 76,122,297 (GRCm39) |
I139S |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,559,248 (GRCm39) |
I937V |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,210,795 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,711,087 (GRCm39) |
I662T |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,528,089 (GRCm39) |
R971G |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,879,928 (GRCm39) |
T1294A |
probably damaging |
Het |
| Herc2 |
T |
G |
7: 55,879,410 (GRCm39) |
V4676G |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,992,022 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
C |
A |
9: 20,946,822 (GRCm39) |
A450E |
possibly damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,498 (GRCm39) |
M28K |
probably benign |
Het |
| Mars1 |
C |
A |
10: 127,141,348 (GRCm39) |
R347L |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 76,905,174 (GRCm39) |
I426F |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,731,960 (GRCm39) |
S3007P |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,149 (GRCm39) |
R65G |
possibly damaging |
Het |
| Ncald |
G |
T |
15: 37,397,505 (GRCm39) |
Y58* |
probably null |
Het |
| Neil2 |
A |
T |
14: 63,426,154 (GRCm39) |
I72K |
probably benign |
Het |
| Or8b35 |
C |
A |
9: 37,904,401 (GRCm39) |
Y204* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,691 (GRCm39) |
F12L |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,154,189 (GRCm39) |
D1086G |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,870 (GRCm39) |
T1087A |
probably damaging |
Het |
| Prpf39 |
A |
G |
12: 65,103,132 (GRCm39) |
M469V |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,444,323 (GRCm39) |
S905C |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,140,067 (GRCm39) |
D164G |
possibly damaging |
Het |
| Setd1a |
T |
C |
7: 127,385,356 (GRCm39) |
W688R |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,616,783 (GRCm39) |
T409I |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Slfn9 |
G |
C |
11: 82,872,095 (GRCm39) |
N880K |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,344,720 (GRCm39) |
K52R |
probably benign |
Het |
| Tfb2m |
T |
C |
1: 179,356,770 (GRCm39) |
D388G |
probably damaging |
Het |
| Tmem234 |
T |
C |
4: 129,500,881 (GRCm39) |
|
probably benign |
Het |
| Traj43 |
A |
G |
14: 54,412,201 (GRCm39) |
N1D |
|
Het |
| Trp53rka |
T |
C |
2: 165,333,445 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,285,855 (GRCm39) |
V440A |
probably benign |
Het |
| Vxn |
C |
T |
1: 9,683,613 (GRCm39) |
T67I |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,085,287 (GRCm39) |
V736I |
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 |
|
|
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 |
|
|
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'- TGAGATGGCCATTAACCTAGCC -3'
(R):5'- TGGGCCATCATACAGAACCC -3'
Sequencing Primer
(F):5'- GCGGCAAAAACGTACTTACTC -3'
(R):5'- GGCCATCATACAGAACCCTGAGAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation