Incidental Mutation 'R4734:Trmt1l'
ID |
359129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt1l
|
Ensembl Gene |
ENSMUSG00000053286 |
Gene Name |
tRNA methyltransferase 1 like |
Synonyms |
1190005F20Rik, Trm1-like |
MMRRC Submission |
041961-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4734 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 151318388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 80
(I80L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140009
(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: I233L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000068309 Gene: ENSMUSG00000053286 AA Change: I233L
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
AA Change: I80L
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140009 Gene: ENSMUSG00000053286 AA Change: I80L
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,603,961 (GRCm39) |
M1V |
probably null |
Het |
Abcb11 |
T |
A |
2: 69,154,306 (GRCm39) |
T87S |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,129,328 (GRCm39) |
V210A |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,713,479 (GRCm39) |
S246P |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
Cdhr18 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
Cfap96 |
A |
T |
8: 46,423,454 (GRCm39) |
M86K |
possibly damaging |
Het |
Chsy3 |
C |
A |
18: 59,312,485 (GRCm39) |
F319L |
probably benign |
Het |
Coro2b |
T |
C |
9: 62,333,860 (GRCm39) |
T345A |
probably benign |
Het |
Cpb1 |
A |
G |
3: 20,317,876 (GRCm39) |
V216A |
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,778 (GRCm39) |
I213V |
probably benign |
Het |
Dcaf15 |
A |
G |
8: 84,824,357 (GRCm39) |
C586R |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,825,657 (GRCm39) |
E314D |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,495,543 (GRCm39) |
R1196H |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
Dpf2 |
A |
G |
19: 5,957,027 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
A |
T |
2: 118,252,568 (GRCm39) |
H302L |
probably damaging |
Het |
Eif2d |
G |
T |
1: 131,092,889 (GRCm39) |
R399L |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,161,192 (GRCm39) |
Y575N |
probably benign |
Het |
Fscb |
T |
C |
12: 64,521,244 (GRCm39) |
E74G |
possibly damaging |
Het |
Gdpd2 |
G |
A |
X: 99,777,799 (GRCm39) |
M243I |
possibly damaging |
Het |
Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,934,811 (GRCm39) |
F156L |
probably benign |
Het |
Gpr37 |
C |
A |
6: 25,689,085 (GRCm39) |
R4L |
possibly damaging |
Het |
Hectd4 |
A |
T |
5: 121,480,040 (GRCm39) |
H2892L |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
Impact |
T |
A |
18: 13,118,346 (GRCm39) |
H188Q |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lnx2 |
C |
T |
5: 146,965,947 (GRCm39) |
G391R |
probably damaging |
Het |
Lrrc19 |
T |
C |
4: 94,526,586 (GRCm39) |
I324V |
probably benign |
Het |
Lrrcc1 |
G |
T |
3: 14,627,345 (GRCm39) |
Q458H |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,597,296 (GRCm39) |
D483E |
probably damaging |
Het |
Mef2c |
T |
A |
13: 83,810,748 (GRCm39) |
*467R |
probably null |
Het |
Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
Myt1l |
T |
C |
12: 29,969,925 (GRCm39) |
I143T |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,860,679 (GRCm39) |
Y426H |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
Oog2 |
T |
C |
4: 143,923,021 (GRCm39) |
S429P |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,805,016 (GRCm39) |
T239S |
probably damaging |
Het |
Or51f1 |
A |
G |
7: 102,506,186 (GRCm39) |
I101T |
probably damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,959 (GRCm39) |
N286I |
probably damaging |
Het |
Or5p51 |
T |
C |
7: 107,444,635 (GRCm39) |
I102V |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,273,040 (GRCm39) |
D93G |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,276,883 (GRCm39) |
M95K |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,133 (GRCm39) |
R762* |
probably null |
Het |
Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
Ppil3 |
A |
G |
1: 58,470,428 (GRCm39) |
Y141H |
probably benign |
Het |
Prb1c |
T |
A |
6: 132,338,891 (GRCm39) |
N109I |
unknown |
Het |
Rassf8 |
G |
T |
6: 145,761,266 (GRCm39) |
K197N |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,752,639 (GRCm39) |
Q1894R |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,740,847 (GRCm39) |
N487Y |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,368,604 (GRCm39) |
Y307C |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
Shroom1 |
C |
T |
11: 53,356,060 (GRCm39) |
S370F |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
Slc2a9 |
C |
A |
5: 38,539,442 (GRCm39) |
G353C |
probably damaging |
Het |
Snx33 |
T |
A |
9: 56,833,185 (GRCm39) |
T295S |
possibly damaging |
Het |
Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,115,509 (GRCm39) |
D761G |
probably benign |
Het |
Tfeb |
T |
C |
17: 48,096,787 (GRCm39) |
V18A |
probably benign |
Het |
Thap12 |
G |
T |
7: 98,365,161 (GRCm39) |
C443F |
probably damaging |
Het |
Thap12 |
T |
A |
7: 98,365,162 (GRCm39) |
C443* |
probably null |
Het |
Tmem67 |
T |
C |
4: 12,063,158 (GRCm39) |
D496G |
probably benign |
Het |
Trappc8 |
G |
A |
18: 20,974,629 (GRCm39) |
R900* |
probably null |
Het |
Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
Trpm5 |
C |
A |
7: 142,636,522 (GRCm39) |
V472L |
probably benign |
Het |
Tspear |
C |
T |
10: 77,700,529 (GRCm39) |
L120F |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,443 (GRCm39) |
V238M |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,909,836 (GRCm39) |
I819V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,897,795 (GRCm39) |
V270E |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
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 |
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'- GAAACTGAGTGCATTTGTCCTG -3'
(R):5'- AAGTTGGGCCTATTTTAGTCTGAC -3'
Sequencing Primer
(F):5'- TGGCTTTGGCATAGCTACGAAAC -3'
(R):5'- TCACTCTGTAGACCAAGCTGG -3'
|
Posted On |
2015-11-11 |