Incidental Mutation 'R7740:Trmt1l'
| ID |
596467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
045796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7740 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151316639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 200
(V200A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065625
AA Change: V200A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: V200A
| 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 |
possibly damaging
Transcript: ENSMUST00000189655
AA Change: V47A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286
AA Change: V47A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
28 |
50 |
1.1e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,370 (GRCm39) |
Q163* |
probably null |
Het |
| Anxa6 |
T |
A |
11: 54,898,725 (GRCm39) |
T150S |
probably damaging |
Het |
| Bpifb6 |
T |
A |
2: 153,744,929 (GRCm39) |
L45Q |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,828,568 (GRCm39) |
D1121G |
probably damaging |
Het |
| C1ql3 |
A |
G |
2: 13,015,483 (GRCm39) |
I59T |
possibly damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,924,888 (GRCm39) |
H674R |
possibly damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,811,337 (GRCm39) |
E258A |
probably damaging |
Het |
| Ces2g |
T |
A |
8: 105,692,962 (GRCm39) |
F333L |
probably damaging |
Het |
| Chn2 |
C |
T |
6: 54,277,156 (GRCm39) |
T445I |
probably benign |
Het |
| Cpe |
T |
C |
8: 65,050,562 (GRCm39) |
D382G |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,428 (GRCm39) |
I960L |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,350,806 (GRCm39) |
V156D |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,556,315 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,482,387 (GRCm39) |
I202V |
probably benign |
Het |
| Dsn1 |
T |
A |
2: 156,839,636 (GRCm39) |
D255V |
possibly damaging |
Het |
| Dvl3 |
A |
T |
16: 20,346,000 (GRCm39) |
|
probably null |
Het |
| Epm2a |
A |
G |
10: 11,266,684 (GRCm39) |
D143G |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,738,149 (GRCm39) |
M565L |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,173,321 (GRCm39) |
C1878R |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,590,834 (GRCm39) |
E946G |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,678,113 (GRCm39) |
R2352K |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,790,122 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
G |
A |
7: 30,362,678 (GRCm39) |
A44V |
possibly damaging |
Het |
| Herc4 |
A |
G |
10: 63,105,457 (GRCm39) |
Y146C |
probably benign |
Het |
| Herc6 |
T |
G |
6: 57,636,802 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
G |
T |
10: 14,003,414 (GRCm39) |
G4V |
probably damaging |
Het |
| Hsdl2 |
G |
T |
4: 59,612,724 (GRCm39) |
G425V |
probably damaging |
Het |
| Igkv1-110 |
C |
T |
6: 68,247,974 (GRCm39) |
L28F |
probably benign |
Het |
| Il21r |
T |
A |
7: 125,231,727 (GRCm39) |
L385Q |
possibly damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
C |
T |
7: 141,728,699 (GRCm39) |
C149Y |
unknown |
Het |
| Lingo2 |
T |
A |
4: 35,709,248 (GRCm39) |
N244I |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,651,527 (GRCm39) |
R1728C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,578,096 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
G |
A |
2: 15,619,026 (GRCm39) |
V297I |
not run |
Het |
| Mars1 |
T |
A |
10: 127,136,444 (GRCm39) |
E460D |
probably benign |
Het |
| Nr1i3 |
A |
G |
1: 171,044,396 (GRCm39) |
I174V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,820,636 (GRCm39) |
T814M |
probably damaging |
Het |
| Or10q1 |
T |
C |
19: 13,727,328 (GRCm39) |
V286A |
probably benign |
Het |
| Or4k1 |
T |
C |
14: 50,377,803 (GRCm39) |
M98V |
probably benign |
Het |
| Or4k52 |
A |
T |
2: 111,610,793 (GRCm39) |
I43F |
possibly damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,470 (GRCm39) |
S509P |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,374,102 (GRCm39) |
L2011S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,478,907 (GRCm39) |
S1930T |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,952,052 (GRCm39) |
|
probably null |
Het |
| Ptprk |
T |
A |
10: 28,372,920 (GRCm39) |
C724S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,509,673 (GRCm39) |
E468G |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,954 (GRCm39) |
R642L |
probably benign |
Het |
| Relch |
T |
C |
1: 105,658,986 (GRCm39) |
V914A |
probably damaging |
Het |
| S1pr4 |
A |
T |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
| Sim2 |
A |
G |
16: 93,915,819 (GRCm39) |
I261V |
probably benign |
Het |
| Slc22a12 |
C |
A |
19: 6,587,199 (GRCm39) |
A448S |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,636,666 (GRCm39) |
|
probably null |
Het |
| Slc6a7 |
T |
C |
18: 61,133,495 (GRCm39) |
E567G |
possibly damaging |
Het |
| St6gal1 |
T |
C |
16: 23,139,785 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,920,546 (GRCm39) |
K550R |
probably benign |
Het |
| Tekt1 |
T |
A |
11: 72,250,544 (GRCm39) |
T51S |
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,050,663 (GRCm39) |
V640E |
probably damaging |
Het |
| Tnfsf8 |
G |
T |
4: 63,752,683 (GRCm39) |
H127Q |
possibly damaging |
Het |
| Tomm20 |
A |
G |
8: 127,666,633 (GRCm39) |
L80S |
probably damaging |
Het |
| Top2a |
T |
C |
11: 98,884,640 (GRCm39) |
D1526G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,982,625 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,615 (GRCm39) |
V316D |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,791,605 (GRCm39) |
H146R |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,781,252 (GRCm39) |
S367P |
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 |
|
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 |
|
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'- ACACTGTTAAATCCAGTTCAGTGAC -3'
(R):5'- ACTGATGTGAAAACATGATACTGCC -3'
Sequencing Primer
(F):5'- ATCCAGTTCAGTGACATAGTACC -3'
(R):5'- AAGAGCACTGACTGTTCTGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation