Incidental Mutation 'R5587:Trmt1l'
| ID |
438787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
Trm1-like, 1190005F20Rik |
| 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 |
151428542-151458161 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 151435704 bp (GRCm38)
|
| 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: 138,065,409 |
R120G |
probably benign |
Het |
| 4930548H24Rik |
G |
T |
5: 31,486,084 |
G53W |
probably benign |
Het |
| Acad11 |
A |
G |
9: 104,063,767 |
T3A |
probably benign |
Het |
| Adamts18 |
G |
A |
8: 113,775,360 |
Q290* |
probably null |
Het |
| Ahnak |
A |
G |
19: 9,009,476 |
D2708G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,525,247 |
C2105S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,539,210 |
F1028I |
probably damaging |
Het |
| Axdnd1 |
C |
G |
1: 156,351,412 |
W615C |
probably damaging |
Het |
| Bcl3 |
A |
T |
7: 19,809,634 |
Y10* |
probably null |
Het |
| Bmp2 |
T |
A |
2: 133,554,646 |
V74E |
possibly damaging |
Het |
| Ccdc78 |
C |
A |
17: 25,786,677 |
P21Q |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,915,484 |
V199E |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,746,738 |
E1120G |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,540,531 |
W1330R |
unknown |
Het |
| Coq4 |
A |
G |
2: 29,795,514 |
|
probably null |
Het |
| Cwf19l1 |
G |
A |
19: 44,120,877 |
T346I |
possibly damaging |
Het |
| Cyct |
T |
C |
2: 76,354,203 |
Y68C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,793,913 |
L2368P |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,437,242 |
F3346I |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,918,267 |
V259E |
probably damaging |
Het |
| Dpyd |
A |
C |
3: 119,064,951 |
S605R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,362,148 |
E209G |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,920,207 |
S61P |
probably benign |
Het |
| Fam71d |
C |
A |
12: 78,715,075 |
P171H |
probably damaging |
Het |
| Gbx2 |
T |
A |
1: 89,933,122 |
|
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,384,684 |
H377R |
probably damaging |
Het |
| Igkv12-46 |
T |
C |
6: 69,764,550 |
Y107C |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,675,308 |
D356G |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,703,220 |
N113Y |
probably damaging |
Het |
| Krt86 |
G |
A |
15: 101,473,593 |
A15T |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,311,679 |
S275R |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,835,530 |
S189T |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,710,342 |
M702K |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,573,714 |
Y223C |
|
Het |
| Lrit3 |
G |
T |
3: 129,788,898 |
A359E |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,499,263 |
E1720G |
probably benign |
Het |
| Mcub |
A |
C |
3: 129,916,970 |
V271G |
probably benign |
Het |
| Nktr |
C |
T |
9: 121,748,489 |
|
probably benign |
Het |
| Olfr1342 |
T |
A |
4: 118,689,870 |
D194V |
probably damaging |
Het |
| Olfr1502 |
G |
A |
19: 13,862,576 |
R261H |
probably damaging |
Het |
| Olfr347 |
A |
T |
2: 36,734,621 |
Q100L |
probably damaging |
Het |
| Olfr617 |
T |
A |
7: 103,584,531 |
Y170N |
probably benign |
Het |
| Olfr979 |
A |
T |
9: 40,000,621 |
I202N |
possibly damaging |
Het |
| Olfr984 |
A |
T |
9: 40,101,244 |
L82Q |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 36,954,822 |
V686A |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,089,873 |
V16A |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 119,073,832 |
S539P |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,463,265 |
I179V |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 150,105,555 |
Y530H |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,189,859 |
V1583A |
probably damaging |
Het |
| Raph1 |
T |
G |
1: 60,498,473 |
D508A |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,394,619 |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,662,121 |
L686P |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,291 |
I1323M |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,273,081 |
N1934S |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,750,427 |
H176Y |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,354,851 |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,914,576 |
I1384T |
possibly damaging |
Het |
| Spata31d1a |
A |
C |
13: 59,702,618 |
C565W |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,127,801 |
Q278L |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,625 |
H345R |
unknown |
Het |
| Suox |
A |
T |
10: 128,671,825 |
D111E |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,992,828 |
F218L |
probably benign |
Het |
| Tfcp2l1 |
C |
A |
1: 118,664,762 |
N288K |
possibly damaging |
Het |
| Tmem128 |
G |
T |
5: 38,260,421 |
R7L |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,437,566 |
N494S |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,193,992 |
H80L |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,749,271 |
Q1211* |
probably null |
Het |
| Tns1 |
T |
A |
1: 73,920,596 |
D1671V |
possibly damaging |
Het |
| Tshz2 |
A |
T |
2: 169,884,342 |
D286V |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,675,659 |
E39G |
probably benign |
Het |
| Vmn2r125 |
G |
A |
4: 156,350,138 |
C73Y |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,504,076 |
D357G |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 42,300,487 |
F777S |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,847,561 |
E407G |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,780,235 |
N521S |
probably damaging |
Het |
| Zan |
C |
G |
5: 137,391,762 |
S4816T |
unknown |
Het |
| Zc3h7b |
T |
C |
15: 81,771,858 |
Y136H |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,381,321 |
K487R |
possibly damaging |
Het |
|
| Other mutations in Trmt1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Trmt1l
|
APN |
1 |
151,442,712 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02175:Trmt1l
|
APN |
1 |
151,448,484 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02348:Trmt1l
|
APN |
1 |
151,450,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02397:Trmt1l
|
APN |
1 |
151,439,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02582:Trmt1l
|
APN |
1 |
151,433,785 (GRCm38) |
splice site |
probably benign |
|
|
IGL03150:Trmt1l
|
APN |
1 |
151,453,892 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03220:Trmt1l
|
APN |
1 |
151,440,941 (GRCm38) |
splice site |
probably benign |
|
|
Canyonlands
|
UTSW |
1 |
151,454,048 (GRCm38) |
nonsense |
probably null |
|
|
splendiforous
|
UTSW |
1 |
151,453,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03014:Trmt1l
|
UTSW |
1 |
151,457,930 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0067:Trmt1l
|
UTSW |
1 |
151,448,380 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0067:Trmt1l
|
UTSW |
1 |
151,448,380 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0240:Trmt1l
|
UTSW |
1 |
151,457,454 (GRCm38) |
unclassified |
probably benign |
|
|
R0267:Trmt1l
|
UTSW |
1 |
151,457,675 (GRCm38) |
unclassified |
probably benign |
|
|
R2084:Trmt1l
|
UTSW |
1 |
151,440,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2206:Trmt1l
|
UTSW |
1 |
151,435,843 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2338:Trmt1l
|
UTSW |
1 |
151,428,959 (GRCm38) |
intron |
probably benign |
|
|
R2408:Trmt1l
|
UTSW |
1 |
151,439,516 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R2429:Trmt1l
|
UTSW |
1 |
151,433,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2520:Trmt1l
|
UTSW |
1 |
151,453,945 (GRCm38) |
missense |
probably benign |
0.14 |
|
R3972:Trmt1l
|
UTSW |
1 |
151,433,883 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4092:Trmt1l
|
UTSW |
1 |
151,455,033 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4361:Trmt1l
|
UTSW |
1 |
151,435,875 (GRCm38) |
intron |
probably benign |
|
|
R4411:Trmt1l
|
UTSW |
1 |
151,452,154 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4419:Trmt1l
|
UTSW |
1 |
151,440,808 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4518:Trmt1l
|
UTSW |
1 |
151,448,343 (GRCm38) |
nonsense |
probably null |
|
|
R4614:Trmt1l
|
UTSW |
1 |
151,454,048 (GRCm38) |
nonsense |
probably null |
|
|
R4617:Trmt1l
|
UTSW |
1 |
151,454,048 (GRCm38) |
nonsense |
probably null |
|
|
R4618:Trmt1l
|
UTSW |
1 |
151,454,048 (GRCm38) |
nonsense |
probably null |
|
|
R4647:Trmt1l
|
UTSW |
1 |
151,457,881 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4653:Trmt1l
|
UTSW |
1 |
151,439,569 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4734:Trmt1l
|
UTSW |
1 |
151,442,637 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4873:Trmt1l
|
UTSW |
1 |
151,455,004 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4875:Trmt1l
|
UTSW |
1 |
151,455,004 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5026:Trmt1l
|
UTSW |
1 |
151,440,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5528:Trmt1l
|
UTSW |
1 |
151,454,995 (GRCm38) |
missense |
probably benign |
|
|
R5872:Trmt1l
|
UTSW |
1 |
151,440,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6060:Trmt1l
|
UTSW |
1 |
151,457,580 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6169:Trmt1l
|
UTSW |
1 |
151,428,953 (GRCm38) |
intron |
probably benign |
|
|
R6333:Trmt1l
|
UTSW |
1 |
151,453,934 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6906:Trmt1l
|
UTSW |
1 |
151,452,175 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7269:Trmt1l
|
UTSW |
1 |
151,457,788 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7574:Trmt1l
|
UTSW |
1 |
151,440,840 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7740:Trmt1l
|
UTSW |
1 |
151,440,888 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7760:Trmt1l
|
UTSW |
1 |
151,442,674 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7984:Trmt1l
|
UTSW |
1 |
151,435,738 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8257:Trmt1l
|
UTSW |
1 |
151,428,878 (GRCm38) |
start codon destroyed |
probably null |
|
|
R8286:Trmt1l
|
UTSW |
1 |
151,457,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8439:Trmt1l
|
UTSW |
1 |
151,449,976 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8451:Trmt1l
|
UTSW |
1 |
151,448,288 (GRCm38) |
missense |
unknown |
|
|
R8514:Trmt1l
|
UTSW |
1 |
151,453,991 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9287:Trmt1l
|
UTSW |
1 |
151,453,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9423:Trmt1l
|
UTSW |
1 |
151,450,066 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9622:Trmt1l
|
UTSW |
1 |
151,428,959 (GRCm38) |
nonsense |
probably null |
|
|
X0039:Trmt1l
|
UTSW |
1 |
151,454,990 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
Z1176:Trmt1l
|
UTSW |
1 |
151,453,113 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
Z1187:Trmt1l
|
UTSW |
1 |
151,457,580 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
Z1189:Trmt1l
|
UTSW |
1 |
151,457,580 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
Z1190:Trmt1l
|
UTSW |
1 |
151,457,580 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
Z1192:Trmt1l
|
UTSW |
1 |
151,457,580 (GRCm38) |
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