Incidental Mutation 'R5587:Trmt1l'
| ID |
438787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
043141-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 151311455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
96% (78/81) |
| 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 |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,170 (GRCm39) |
R120G |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,940,966 (GRCm39) |
T3A |
probably benign |
Het |
| Adamts18 |
G |
A |
8: 114,501,992 (GRCm39) |
Q290* |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,986,840 (GRCm39) |
D2708G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,658,304 (GRCm39) |
C2105S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,672,281 (GRCm39) |
F1028I |
probably damaging |
Het |
| Axdnd1 |
C |
G |
1: 156,178,982 (GRCm39) |
W615C |
probably damaging |
Het |
| Bcl3 |
A |
T |
7: 19,543,559 (GRCm39) |
Y10* |
probably null |
Het |
| Bmp2 |
T |
A |
2: 133,396,566 (GRCm39) |
V74E |
possibly damaging |
Het |
| Ccdc121 |
G |
T |
5: 31,643,428 (GRCm39) |
G53W |
probably benign |
Het |
| Ccdc78 |
C |
A |
17: 26,005,651 (GRCm39) |
P21Q |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,733,348 (GRCm39) |
V199E |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,894,552 (GRCm39) |
E1120G |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,540,531 (GRCm39) |
W1330R |
unknown |
Het |
| Coq4 |
A |
G |
2: 29,685,526 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
G |
A |
19: 44,109,316 (GRCm39) |
T346I |
possibly damaging |
Het |
| Cyct |
T |
C |
2: 76,184,547 (GRCm39) |
Y68C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,870,977 (GRCm39) |
L2368P |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,328,068 (GRCm39) |
F3346I |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,968,295 (GRCm39) |
V259E |
probably damaging |
Het |
| Dpyd |
A |
C |
3: 118,858,600 (GRCm39) |
S605R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,089,459 (GRCm39) |
E209G |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,897,575 (GRCm39) |
S61P |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,761,849 (GRCm39) |
P171H |
probably damaging |
Het |
| Gbx2 |
T |
A |
1: 89,860,844 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,295,980 (GRCm39) |
H377R |
probably damaging |
Het |
| Igkv12-46 |
T |
C |
6: 69,741,534 (GRCm39) |
Y107C |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,629,738 (GRCm39) |
D356G |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,054 (GRCm39) |
N113Y |
probably damaging |
Het |
| Krt86 |
G |
A |
15: 101,371,474 (GRCm39) |
A15T |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,017,316 (GRCm39) |
S275R |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,364 (GRCm39) |
S189T |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,601,168 (GRCm39) |
M702K |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,623,715 (GRCm39) |
Y223C |
|
Het |
| Lrit3 |
G |
T |
3: 129,582,547 (GRCm39) |
A359E |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,329,607 (GRCm39) |
E1720G |
probably benign |
Het |
| Mcub |
A |
C |
3: 129,710,619 (GRCm39) |
V271G |
probably benign |
Het |
| Nktr |
C |
T |
9: 121,577,555 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,911,917 (GRCm39) |
I202N |
possibly damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,067 (GRCm39) |
D194V |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,633 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,540 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or52z12 |
T |
A |
7: 103,233,738 (GRCm39) |
Y170N |
probably benign |
Het |
| Or9i1 |
G |
A |
19: 13,839,940 (GRCm39) |
R261H |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,087,875 (GRCm39) |
V686A |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,409 (GRCm39) |
V16A |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,902,900 (GRCm39) |
S539P |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,199 (GRCm39) |
I179V |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,981,306 (GRCm39) |
Y530H |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,080,685 (GRCm39) |
V1583A |
probably damaging |
Het |
| Raph1 |
T |
G |
1: 60,537,632 (GRCm39) |
D508A |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,371,603 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,328 (GRCm39) |
L686P |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,291 (GRCm39) |
I1323M |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,425 (GRCm39) |
N1934S |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,352,151 (GRCm39) |
H176Y |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,244,863 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,821,909 (GRCm39) |
I1384T |
possibly damaging |
Het |
| Spata31d1a |
A |
C |
13: 59,850,432 (GRCm39) |
C565W |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,435,229 (GRCm39) |
Q278L |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,625 (GRCm39) |
H345R |
unknown |
Het |
| Suox |
A |
T |
10: 128,507,694 (GRCm39) |
D111E |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,726 (GRCm39) |
F218L |
probably benign |
Het |
| Tfcp2l1 |
C |
A |
1: 118,592,492 (GRCm39) |
N288K |
possibly damaging |
Het |
| Tmem128 |
G |
T |
5: 38,417,765 (GRCm39) |
R7L |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,850 (GRCm39) |
N494S |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,412,966 (GRCm39) |
H80L |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,640,097 (GRCm39) |
Q1211* |
probably null |
Het |
| Tns1 |
T |
A |
1: 73,959,755 (GRCm39) |
D1671V |
possibly damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,262 (GRCm39) |
D286V |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,566,485 (GRCm39) |
E39G |
probably benign |
Het |
| Vmn2r125 |
G |
A |
4: 156,702,433 (GRCm39) |
C73Y |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,911 (GRCm39) |
F777S |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,427 (GRCm39) |
E407G |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,458 (GRCm39) |
N521S |
probably damaging |
Het |
| Zan |
C |
G |
5: 137,390,024 (GRCm39) |
S4816T |
unknown |
Het |
| Zc3h7b |
T |
C |
15: 81,656,059 (GRCm39) |
Y136H |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,600,295 (GRCm39) |
K487R |
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 |
|
|
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 |
|
|
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'- GCCACAGATAGCAGAGTCTCAG -3'
(R):5'- CATTGAGTGGGGACATTAAATCATC -3'
Sequencing Primer
(F):5'- CAGAGTCTCAGAGCTAAAGATAGTC -3'
(R):5'- TCCAAAGCTGGTACAAATGTTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation