Incidental Mutation 'R2206:Trmt1l'
ID |
239019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt1l
|
Ensembl Gene |
ENSMUSG00000053286 |
Gene Name |
tRNA methyltransferase 1 like |
Synonyms |
1190005F20Rik, Trm1-like |
MMRRC Submission |
040208-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2206 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 151311594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068309
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000065625
|
SMART Domains |
Protein: ENSMUSP00000068309 Gene: ENSMUSG00000053286
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 benign
Transcript: ENSMUST00000189655
|
SMART Domains |
Protein: ENSMUSP00000140009 Gene: ENSMUSG00000053286
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
28 |
50 |
1.1e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
T |
7: 130,964,331 (GRCm39) |
C24S |
probably benign |
Het |
2410137M14Rik |
A |
G |
17: 37,288,965 (GRCm39) |
|
probably benign |
Het |
Abhd18 |
G |
A |
3: 40,865,008 (GRCm39) |
G83D |
probably benign |
Het |
Adam34 |
T |
C |
8: 44,105,274 (GRCm39) |
I124V |
probably benign |
Het |
Adck2 |
A |
G |
6: 39,560,773 (GRCm39) |
D123G |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,537,221 (GRCm39) |
E37G |
probably damaging |
Het |
Axl |
T |
C |
7: 25,470,061 (GRCm39) |
Y466C |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bpifb9a |
A |
T |
2: 154,106,161 (GRCm39) |
|
probably null |
Het |
Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,603,987 (GRCm39) |
S1282T |
probably benign |
Het |
Calcr |
T |
C |
6: 3,717,133 (GRCm39) |
Y109C |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cst13 |
A |
T |
2: 148,665,202 (GRCm39) |
R66W |
probably damaging |
Het |
Cstf2t |
A |
G |
19: 31,061,175 (GRCm39) |
N237S |
probably benign |
Het |
Dhx8 |
A |
G |
11: 101,641,797 (GRCm39) |
T632A |
probably benign |
Het |
Disp2 |
G |
T |
2: 118,622,725 (GRCm39) |
Q1152H |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,672,664 (GRCm39) |
H599R |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,027,161 (GRCm39) |
S2090P |
probably benign |
Het |
Dnajc13 |
C |
G |
9: 104,080,717 (GRCm39) |
V821L |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,403,652 (GRCm39) |
H1617Q |
probably benign |
Het |
Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
Ephb4 |
T |
C |
5: 137,355,981 (GRCm39) |
C197R |
probably damaging |
Het |
Foxn1 |
C |
A |
11: 78,249,630 (GRCm39) |
A632S |
probably benign |
Het |
Fpr3 |
A |
C |
17: 18,190,908 (GRCm39) |
T60P |
probably damaging |
Het |
Gja4 |
A |
T |
4: 127,206,410 (GRCm39) |
S118T |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Itfg1 |
A |
T |
8: 86,502,827 (GRCm39) |
S246R |
probably benign |
Het |
Kazn |
A |
T |
4: 141,845,603 (GRCm39) |
|
probably null |
Het |
Mdn1 |
T |
C |
4: 32,716,271 (GRCm39) |
L2111P |
possibly damaging |
Het |
Myo6 |
A |
G |
9: 80,165,737 (GRCm39) |
Y374C |
probably benign |
Het |
Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
Or1a1 |
G |
T |
11: 74,087,150 (GRCm39) |
V274L |
possibly damaging |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or5b99 |
A |
G |
19: 12,976,404 (GRCm39) |
D18G |
probably benign |
Het |
Or9m1b |
A |
G |
2: 87,836,579 (GRCm39) |
V181A |
probably benign |
Het |
Pcdhb15 |
A |
T |
18: 37,608,075 (GRCm39) |
T436S |
probably benign |
Het |
Pcdhb18 |
T |
A |
18: 37,624,342 (GRCm39) |
N557K |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,468,633 (GRCm39) |
M518T |
probably benign |
Het |
Pcmtd1 |
A |
T |
1: 7,239,807 (GRCm39) |
I83L |
probably benign |
Het |
Pitrm1 |
T |
A |
13: 6,619,327 (GRCm39) |
Y721N |
probably damaging |
Het |
Prcp |
C |
T |
7: 92,577,820 (GRCm39) |
T328I |
probably damaging |
Het |
Psg27 |
C |
A |
7: 18,301,036 (GRCm39) |
E6* |
probably null |
Het |
Pth1r |
T |
A |
9: 110,552,655 (GRCm39) |
E465V |
probably damaging |
Het |
Pus7l |
T |
C |
15: 94,421,471 (GRCm39) |
Y613C |
probably damaging |
Het |
Rsl1 |
A |
G |
13: 67,330,892 (GRCm39) |
T447A |
probably benign |
Het |
Setd3 |
C |
T |
12: 108,073,544 (GRCm39) |
V578M |
probably benign |
Het |
Slc10a1 |
T |
C |
12: 81,014,402 (GRCm39) |
N106S |
probably damaging |
Het |
Slc29a3 |
T |
C |
10: 60,551,686 (GRCm39) |
M453V |
possibly damaging |
Het |
Slc4a8 |
T |
C |
15: 100,705,326 (GRCm39) |
V844A |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,218,655 (GRCm39) |
H609R |
possibly damaging |
Het |
Spata31d1e |
A |
G |
13: 59,890,920 (GRCm39) |
V300A |
probably benign |
Het |
Tmppe |
C |
G |
9: 114,234,640 (GRCm39) |
P313R |
probably benign |
Het |
Tnxb |
A |
C |
17: 34,928,391 (GRCm39) |
T2602P |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,839,701 (GRCm39) |
N1643S |
probably benign |
Het |
Vmn1r177 |
A |
T |
7: 23,565,556 (GRCm39) |
C107S |
probably damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,910,678 (GRCm39) |
V690E |
possibly damaging |
Het |
Xaf1 |
A |
T |
11: 72,194,228 (GRCm39) |
E36D |
possibly damaging |
Het |
Zbtb40 |
G |
A |
4: 136,744,596 (GRCm39) |
Q275* |
probably null |
Het |
Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
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 |
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'- GAGGCTCCTGTTACTGTGTAGC -3'
(R):5'- CAGTCTTAGACGGCTAATGCATG -3'
Sequencing Primer
(F):5'- TGTGTAGCTGACCCAGGCATTAAC -3'
(R):5'- ACGGCTAATGCATGTCACTG -3'
|
Posted On |
2014-10-02 |