Incidental Mutation 'R0067:Trmt1l'
| ID |
18040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
038358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0067 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151324131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 326
(V326A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065625
AA Change: V326A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: V326A
| 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: ENSMUST00000188179
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000192826
|
| Meta Mutation Damage Score |
0.1180 |
| Coding Region Coverage |
- 1x: 87.3%
- 3x: 82.3%
- 10x: 64.1%
- 20x: 35.8%
|
| Validation Efficiency |
96% (73/76) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
| AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,889,761 (GRCm39) |
|
noncoding transcript |
Het |
| Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
| Mc5r |
T |
G |
18: 68,472,637 (GRCm39) |
M332R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,063,060 (GRCm39) |
T882A |
probably benign |
Het |
| Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
| Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
| Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
| Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
| Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
| Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
| Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
possibly 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 |
|
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 |
|
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 |
2013-03-25 |
Incidental Mutation