Incidental Mutation 'R5026:Trmt1l'
| ID |
391320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
042617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5026 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151316627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 196
(M196K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065625
AA Change: M196K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: M196K
| 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: ENSMUST00000185230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188843
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189655
AA Change: M43K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286
AA Change: M43K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
28 |
50 |
1.1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198467
|
| Meta Mutation Damage Score |
0.2894 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.7%
|
| Validation Efficiency |
96% (88/92) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,356,383 (GRCm39) |
N608S |
probably benign |
Het |
| Actg1 |
T |
C |
11: 120,237,784 (GRCm39) |
N7S |
probably damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,225,262 (GRCm39) |
L357Q |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,995 (GRCm39) |
Q3093L |
possibly damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,794,692 (GRCm39) |
V359E |
probably benign |
Het |
| Ankrd40 |
T |
C |
11: 94,230,550 (GRCm39) |
|
probably benign |
Het |
| Ano10 |
G |
A |
9: 122,101,625 (GRCm39) |
Q49* |
probably null |
Het |
| Aoah |
A |
T |
13: 21,099,129 (GRCm39) |
D236V |
probably damaging |
Het |
| Bin1 |
T |
C |
18: 32,552,983 (GRCm39) |
|
probably null |
Het |
| Braf |
T |
C |
6: 39,665,221 (GRCm39) |
D49G |
probably benign |
Het |
| Brsk1 |
A |
T |
7: 4,707,265 (GRCm39) |
R273W |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,109,049 (GRCm39) |
M2259K |
possibly damaging |
Het |
| Cabp1 |
T |
C |
5: 115,313,531 (GRCm39) |
N43D |
possibly damaging |
Het |
| Ccar2 |
T |
A |
14: 70,379,951 (GRCm39) |
Q412L |
possibly damaging |
Het |
| Cd4 |
T |
C |
6: 124,843,583 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cdh23 |
T |
A |
10: 60,140,627 (GRCm39) |
I3206F |
possibly damaging |
Het |
| Ceacam9 |
A |
T |
7: 16,459,122 (GRCm39) |
|
probably null |
Het |
| Chid1 |
T |
C |
7: 141,093,749 (GRCm39) |
D289G |
probably damaging |
Het |
| Chmp6 |
T |
A |
11: 119,809,469 (GRCm39) |
L196Q |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,775,757 (GRCm39) |
S536P |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,701,657 (GRCm39) |
Y166S |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,226,523 (GRCm39) |
W1318L |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,387,098 (GRCm39) |
F212S |
probably damaging |
Het |
| Entpd6 |
A |
T |
2: 150,605,564 (GRCm39) |
S265C |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,360,206 (GRCm39) |
T523A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,262,819 (GRCm39) |
S939P |
unknown |
Het |
| Gjb3 |
A |
T |
4: 127,220,280 (GRCm39) |
V84D |
probably damaging |
Het |
| Gm572 |
A |
T |
4: 148,739,301 (GRCm39) |
E43V |
possibly damaging |
Het |
| Gm6185 |
T |
A |
1: 161,052,178 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
A |
11: 57,201,522 (GRCm39) |
C787S |
probably damaging |
Het |
| Grpel2 |
A |
G |
18: 61,849,024 (GRCm39) |
L162P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,393,408 (GRCm39) |
T4096A |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,600,785 (GRCm39) |
M41K |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,293 (GRCm39) |
Y388C |
probably damaging |
Het |
| Ighv3-4 |
A |
G |
12: 114,217,382 (GRCm39) |
Y70H |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,834,213 (GRCm39) |
L176P |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,836 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,333,287 (GRCm39) |
T2376I |
possibly damaging |
Het |
| Map1a |
T |
G |
2: 121,138,019 (GRCm39) |
S2660A |
possibly damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,121,158 (GRCm39) |
H676R |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,276,338 (GRCm39) |
K693M |
probably damaging |
Het |
| Ndufa13 |
T |
A |
8: 70,347,920 (GRCm39) |
R49* |
probably null |
Het |
| Neb |
T |
A |
2: 52,094,892 (GRCm39) |
T1115S |
possibly damaging |
Het |
| Nvl |
C |
T |
1: 180,932,720 (GRCm39) |
R699H |
probably damaging |
Het |
| Or10w1 |
A |
G |
19: 13,632,296 (GRCm39) |
I163V |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,364 (GRCm39) |
I215N |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,041 (GRCm39) |
D19G |
probably benign |
Het |
| Or8d2b |
A |
T |
9: 38,789,195 (GRCm39) |
H241L |
possibly damaging |
Het |
| Piezo1 |
G |
T |
8: 123,213,557 (GRCm39) |
D1779E |
probably benign |
Het |
| Prl8a9 |
A |
G |
13: 27,745,560 (GRCm39) |
S77P |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,176,506 (GRCm39) |
I2904F |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,970,214 (GRCm39) |
S151T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,590 (GRCm39) |
D1859G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,256,426 (GRCm39) |
F173L |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,376,931 (GRCm39) |
N371K |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,284 (GRCm39) |
D659V |
possibly damaging |
Het |
| Sez6 |
T |
A |
11: 77,859,815 (GRCm39) |
F378Y |
probably damaging |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,414,147 (GRCm39) |
N917I |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,792,768 (GRCm39) |
|
probably benign |
Het |
| Tes |
T |
C |
6: 17,096,339 (GRCm39) |
V24A |
probably benign |
Het |
| Tial1 |
C |
T |
7: 128,050,120 (GRCm39) |
E82K |
probably damaging |
Het |
| Tmem94 |
G |
A |
11: 115,683,930 (GRCm39) |
C750Y |
probably damaging |
Het |
| Tmppe |
T |
A |
9: 114,234,887 (GRCm39) |
N395K |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,973,707 (GRCm39) |
H220R |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,040,122 (GRCm39) |
T610A |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,715 (GRCm39) |
*872W |
probably null |
Het |
| Ttn |
T |
C |
2: 76,579,353 (GRCm39) |
T23847A |
probably benign |
Het |
| Ube4b |
T |
A |
4: 149,445,022 (GRCm39) |
L440F |
probably damaging |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,838,185 (GRCm39) |
T889S |
possibly damaging |
Het |
| Vmn1r215 |
C |
T |
13: 23,260,449 (GRCm39) |
T163I |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,508,722 (GRCm39) |
Y483* |
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,525,838 (GRCm39) |
C120* |
probably null |
Het |
| Zc3h6 |
G |
A |
2: 128,859,229 (GRCm39) |
V1087I |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,507,302 (GRCm39) |
H889R |
probably damaging |
Het |
| Zfp825 |
G |
T |
13: 74,629,196 (GRCm39) |
H107N |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,069,859 (GRCm39) |
H680R |
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 |
|
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 |
|
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'- GGTACATCAGGAAATTAACATCACC -3'
(R):5'- GGGTACTGATGTGAAAACATGATACTG -3'
Sequencing Primer
(F):5'- TCACCTTTTACACTGTTAAATCCAG -3'
(R):5'- AAGAGCACTGACTGTTCTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation