Incidental Mutation 'R5872:Trmt1l'
| ID |
455216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
044079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5872 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 151316594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 32
(I32S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065625
AA Change: I185S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: I185S
| 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 damaging
Transcript: ENSMUST00000189655
AA Change: I32S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286
AA Change: I32S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
28 |
50 |
1.1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198467
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
|
| 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 |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,309 (GRCm39) |
S1219P |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,538,489 (GRCm39) |
Y644H |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,007,902 (GRCm39) |
R1232S |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,463,975 (GRCm39) |
V70M |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,986,446 (GRCm39) |
I42V |
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,071,267 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
A |
T |
1: 172,071,975 (GRCm39) |
L432Q |
probably damaging |
Het |
| Bbs12 |
T |
A |
3: 37,374,598 (GRCm39) |
C349S |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,007 (GRCm39) |
V479A |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,748,043 (GRCm39) |
K761* |
probably null |
Het |
| Cd177 |
C |
T |
7: 24,451,688 (GRCm39) |
G443R |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,410 (GRCm39) |
D375G |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,268 (GRCm39) |
Y174H |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,943 (GRCm39) |
M382V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,531,926 (GRCm39) |
S782N |
unknown |
Het |
| Crtac1 |
C |
T |
19: 42,297,629 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,445,923 (GRCm39) |
D3683V |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,354 (GRCm39) |
L62P |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,867 (GRCm39) |
K208* |
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,278,680 (GRCm39) |
L394P |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,585,305 (GRCm39) |
E192G |
probably benign |
Het |
| Fads2 |
T |
C |
19: 10,059,997 (GRCm39) |
I226V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,161,208 (GRCm39) |
E3174G |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,881,826 (GRCm39) |
R91Q |
probably damaging |
Het |
| Hdhd5 |
G |
T |
6: 120,487,252 (GRCm39) |
D368E |
probably benign |
Het |
| Hk3 |
T |
A |
13: 55,158,617 (GRCm39) |
I528F |
probably damaging |
Het |
| Il10ra |
A |
C |
9: 45,166,951 (GRCm39) |
S533R |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,305,950 (GRCm39) |
K169N |
probably benign |
Het |
| Lrrc17 |
A |
G |
5: 21,780,264 (GRCm39) |
T413A |
probably benign |
Het |
| Mcm2 |
C |
T |
6: 88,861,053 (GRCm39) |
D882N |
probably benign |
Het |
| Met |
T |
C |
6: 17,562,197 (GRCm39) |
V1186A |
probably damaging |
Het |
| Msh5 |
C |
T |
17: 35,248,628 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,600,648 (GRCm39) |
I1326M |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,850,896 (GRCm38) |
I314V |
probably benign |
Het |
| Or10g1 |
A |
C |
14: 52,648,225 (GRCm39) |
F35V |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,412 (GRCm39) |
Y143N |
probably benign |
Het |
| Pim1 |
A |
G |
17: 29,712,720 (GRCm39) |
E211G |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,189 (GRCm39) |
Y90N |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,704,144 (GRCm39) |
D903E |
probably benign |
Het |
| Ptpn14 |
T |
C |
1: 189,583,229 (GRCm39) |
L692P |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,977,138 (GRCm39) |
C387R |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,418,369 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
A |
G |
5: 125,381,341 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,800 (GRCm39) |
D359V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,063,817 (GRCm39) |
S1297P |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,069,125 (GRCm39) |
D250G |
probably damaging |
Het |
| Slamf7 |
A |
G |
1: 171,466,635 (GRCm39) |
L190S |
probably damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,652,355 (GRCm39) |
P423L |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,697,137 (GRCm39) |
E217V |
probably damaging |
Het |
| Spocd1 |
A |
T |
4: 129,850,254 (GRCm39) |
N760I |
probably damaging |
Het |
| Tas2r136 |
G |
T |
6: 132,754,294 (GRCm39) |
P278T |
possibly damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,377,836 (GRCm39) |
Q180L |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,858,010 (GRCm39) |
T79S |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,965,105 (GRCm39) |
C430S |
probably benign |
Het |
| Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,152,641 (GRCm39) |
T2011A |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,569,652 (GRCm39) |
W1358* |
probably null |
Het |
| Usp31 |
T |
G |
7: 121,248,698 (GRCm39) |
H915P |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,377 (GRCm39) |
M79K |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,222 (GRCm39) |
I117T |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,869,497 (GRCm39) |
H2667R |
possibly damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,305,962 (GRCm39) |
T912M |
possibly damaging |
Het |
| Zfp709 |
G |
A |
8: 72,643,363 (GRCm39) |
C264Y |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,156,898 (GRCm39) |
I467V |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,347,281 (GRCm39) |
D214V |
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 |
|
|
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'- GGCCTGCTAGAACAAAGTGTATATAAG -3'
(R):5'- ACTGATGTGAAAACATGATACTGCC -3'
Sequencing Primer
(F):5'- AGCATCACTAGTGAAATGATTCTTTC -3'
(R):5'- AAGAGCACTGACTGTTCTGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation