Incidental Mutation 'R4617:Trmt1l'
| ID |
351090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
041828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4617 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 151329799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 581
(Q581*)
|
| 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 null
Transcript: ENSMUST00000065625
AA Change: Q581*
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: Q581*
| 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (66/69) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
| Acaa1a |
T |
A |
9: 119,178,006 (GRCm39) |
S279R |
probably damaging |
Het |
| Akr1cl |
A |
G |
1: 65,060,550 (GRCm39) |
C156R |
probably damaging |
Het |
| Arhgap11a |
G |
A |
2: 113,664,423 (GRCm39) |
T620M |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,681,198 (GRCm39) |
I444T |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,394,913 (GRCm39) |
I760V |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,102,435 (GRCm39) |
|
probably benign |
Het |
| Cpd |
A |
G |
11: 76,731,441 (GRCm39) |
L255P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,845 (GRCm39) |
Y670H |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,620,643 (GRCm39) |
M458I |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,620,918 (GRCm39) |
I563T |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,484,442 (GRCm39) |
S1001T |
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,957,764 (GRCm39) |
Y256C |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,839,139 (GRCm39) |
T725I |
probably benign |
Het |
| Fam168b |
A |
G |
1: 34,859,063 (GRCm39) |
V72A |
possibly damaging |
Het |
| Fbxw20 |
C |
T |
9: 109,046,631 (GRCm39) |
S443N |
probably damaging |
Het |
| Flacc1 |
A |
T |
1: 58,700,601 (GRCm39) |
D301E |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,003 (GRCm39) |
V447A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,323,550 (GRCm39) |
S58P |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Lpcat2b |
T |
C |
5: 107,581,865 (GRCm39) |
L398P |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrpl38 |
T |
C |
11: 116,023,278 (GRCm39) |
D325G |
probably damaging |
Het |
| Mtmr12 |
A |
G |
15: 12,270,132 (GRCm39) |
E430G |
probably damaging |
Het |
| Mup18 |
T |
A |
4: 61,590,154 (GRCm39) |
I125F |
possibly damaging |
Het |
| Ogdhl |
A |
G |
14: 32,047,842 (GRCm39) |
R31G |
probably benign |
Het |
| Or13f5 |
A |
T |
4: 52,825,399 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh1 |
C |
A |
18: 38,330,913 (GRCm39) |
V697L |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,553 (GRCm39) |
Y461H |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,723 (GRCm39) |
Y625C |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
| Poglut2 |
A |
C |
1: 44,149,180 (GRCm39) |
F453V |
probably damaging |
Het |
| Ptprn |
T |
A |
1: 75,228,931 (GRCm39) |
D828V |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,700 (GRCm39) |
W97R |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,386,762 (GRCm39) |
Q508L |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,413 (GRCm39) |
S126T |
possibly damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,768 (GRCm39) |
N100S |
probably benign |
Het |
| Speer1j |
T |
C |
5: 11,553,798 (GRCm39) |
S7P |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,605,716 (GRCm39) |
D167E |
probably benign |
Het |
| Stambp |
G |
A |
6: 83,538,960 (GRCm39) |
Q147* |
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,047,000 (GRCm39) |
V556A |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,087,075 (GRCm39) |
D592G |
probably benign |
Het |
| Tmem199 |
A |
T |
11: 78,400,508 (GRCm39) |
|
probably benign |
Het |
| Traip |
T |
A |
9: 107,847,218 (GRCm39) |
N352K |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,600,406 (GRCm39) |
A1444S |
probably benign |
Het |
| Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,225,389 (GRCm39) |
T471I |
probably damaging |
Het |
| Zdhhc19 |
A |
G |
16: 32,316,494 (GRCm39) |
D83G |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,841,752 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,944 (GRCm39) |
S170T |
probably benign |
Het |
| Zfp970 |
A |
G |
2: 177,167,961 (GRCm39) |
I512V |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,616 (GRCm39) |
I205V |
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 |
|
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 |
|
|
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'- AAACATTTCTTTTCCAGGTCAAGTTCC -3'
(R):5'- AGAGGGTGACAGGCTTTGC -3'
Sequencing Primer
(F):5'- AGGTCAAGTTCCCTTTTCAATACTGG -3'
(R):5'- AGTGTATGCCCAGCACTCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation