Incidental Mutation 'R0267:Trmt1l'
| ID |
34972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
038493-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0267 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 151333426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
[ENSMUST00000190070]
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
| Validation Efficiency |
97% (64/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,105 (GRCm39) |
F1721S |
probably damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,401,238 (GRCm39) |
R78H |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
| Adrb1 |
A |
T |
19: 56,711,923 (GRCm39) |
K374* |
probably null |
Het |
| Aldh18a1 |
C |
A |
19: 40,562,233 (GRCm39) |
V264F |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,358,551 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,236,979 (GRCm39) |
H393L |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,605 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,288 (GRCm39) |
Y297C |
probably damaging |
Het |
| Atxn2l |
T |
G |
7: 126,092,379 (GRCm39) |
Q950P |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,418,540 (GRCm39) |
D737V |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,496,939 (GRCm39) |
I212T |
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,255,107 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
C |
A |
2: 92,443,951 (GRCm39) |
P141Q |
probably damaging |
Het |
| Cped1 |
T |
A |
6: 22,119,475 (GRCm39) |
F311L |
probably damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,923,454 (GRCm39) |
H113Q |
probably benign |
Het |
| Dcn |
A |
T |
10: 97,342,345 (GRCm39) |
|
probably benign |
Het |
| Dmbx1 |
C |
T |
4: 115,775,309 (GRCm39) |
A324T |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,490,171 (GRCm39) |
Q1618K |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,710,921 (GRCm39) |
E443G |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,221,452 (GRCm39) |
V953A |
possibly damaging |
Het |
| Exosc10 |
T |
C |
4: 148,647,213 (GRCm39) |
L174P |
probably damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,365 (GRCm39) |
Y366C |
probably damaging |
Het |
| Fxyd3 |
T |
C |
7: 30,770,159 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,335,867 (GRCm39) |
V189A |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,719,426 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,845,319 (GRCm39) |
T3A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,366,839 (GRCm39) |
|
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,944,141 (GRCm39) |
L295S |
probably damaging |
Het |
| Hrh4 |
C |
A |
18: 13,155,455 (GRCm39) |
Y331* |
probably null |
Het |
| Hsd11b1 |
A |
T |
1: 192,923,705 (GRCm39) |
Y52N |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,017,701 (GRCm39) |
I29T |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,663,930 (GRCm39) |
I353N |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,904,635 (GRCm39) |
G246C |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,093,040 (GRCm39) |
M137L |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,628,567 (GRCm39) |
I340T |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,831 (GRCm39) |
I1969S |
probably benign |
Het |
| Or14a258 |
T |
C |
7: 86,035,475 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,792 (GRCm39) |
C139S |
probably damaging |
Het |
| Or6n1 |
A |
G |
1: 173,916,732 (GRCm39) |
N42S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,194 (GRCm39) |
L3232P |
unknown |
Het |
| Polr1a |
T |
G |
6: 71,951,123 (GRCm39) |
I1407M |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,656,722 (GRCm39) |
V817A |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,386,066 (GRCm39) |
T280A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,188 (GRCm39) |
D521G |
probably benign |
Het |
| Scn5a |
C |
T |
9: 119,372,201 (GRCm39) |
V223I |
probably damaging |
Het |
| Sgsm3 |
T |
G |
15: 80,890,803 (GRCm39) |
M119R |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,129,783 (GRCm39) |
M608L |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,339,673 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,723,561 (GRCm39) |
I440F |
probably benign |
Het |
| Syn2 |
T |
G |
6: 115,231,111 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tfb2m |
G |
A |
1: 179,361,203 (GRCm39) |
H262Y |
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,800,742 (GRCm39) |
P819T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,574,033 (GRCm39) |
A25620V |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,459,553 (GRCm39) |
|
probably null |
Het |
| Vars1 |
T |
C |
17: 35,230,572 (GRCm39) |
|
probably benign |
Het |
| Vip |
A |
T |
10: 5,594,004 (GRCm39) |
D119V |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,935,802 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zbtb21 |
T |
A |
16: 97,753,300 (GRCm39) |
S356C |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,297,362 (GRCm39) |
S237T |
probably benign |
Het |
| Zfp142 |
G |
A |
1: 74,615,223 (GRCm39) |
A427V |
probably benign |
Het |
| Zfp692 |
T |
A |
11: 58,205,140 (GRCm39) |
V463E |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,670,322 (GRCm39) |
I384N |
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 |
|
|
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 |
|
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'- AAGGCCAGTGAGAATTGTGTAGTCG -3'
(R):5'- TGGGCCATCATACAGAACCCTGAG -3'
Sequencing Primer
(F):5'- TGTGTCTTCCAGGCAAGAG -3'
(R):5'- GGACATCTCAACCCTGTCG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation