Incidental Mutation 'R3813:Trmt1'
ID |
274151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt1
|
Ensembl Gene |
ENSMUSG00000001909 |
Gene Name |
tRNA methyltransferase 1 |
Synonyms |
6720406L13Rik, D8Ertd812e |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.686)
|
Stock # |
R3813 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85412953-85426437 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 85421846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000109767]
[ENSMUST00000109768]
[ENSMUST00000125370]
[ENSMUST00000131700]
[ENSMUST00000175784]
[ENSMUST00000143427]
[ENSMUST00000152301]
[ENSMUST00000177084]
[ENSMUST00000177423]
[ENSMUST00000177531]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001974
|
SMART Domains |
Protein: ENSMUSP00000001974 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
55 |
499 |
3.5e-151 |
PFAM |
Pfam:Met_10
|
141 |
256 |
1.3e-8 |
PFAM |
ZnF_C3H1
|
599 |
625 |
3.55e-6 |
SMART |
low complexity region
|
648 |
661 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000077990
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109767
|
SMART Domains |
Protein: ENSMUSP00000105389 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
55 |
499 |
4.9e-149 |
PFAM |
Pfam:Met_10
|
142 |
256 |
3.4e-8 |
PFAM |
ZnF_C3H1
|
599 |
625 |
3.55e-6 |
SMART |
low complexity region
|
648 |
661 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109768
|
SMART Domains |
Protein: ENSMUSP00000105390 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
48 |
492 |
3.1e-149 |
PFAM |
Pfam:Met_10
|
135 |
249 |
4.4e-8 |
PFAM |
ZnF_C3H1
|
592 |
618 |
3.55e-6 |
SMART |
low complexity region
|
641 |
654 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125370
|
SMART Domains |
Protein: ENSMUSP00000135510 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
55 |
470 |
1.7e-140 |
PFAM |
Pfam:Met_10
|
142 |
256 |
2.8e-8 |
PFAM |
ZnF_C3H1
|
570 |
596 |
3.55e-6 |
SMART |
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148118
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131700
|
SMART Domains |
Protein: ENSMUSP00000122526 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
54 |
108 |
3.9e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175784
|
SMART Domains |
Protein: ENSMUSP00000135273 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
54 |
221 |
8.6e-39 |
PFAM |
Pfam:Met_10
|
144 |
221 |
5.3e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137953
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143427
|
SMART Domains |
Protein: ENSMUSP00000117140 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
47 |
98 |
3.2e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152301
|
SMART Domains |
Protein: ENSMUSP00000116712 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
54 |
242 |
4.2e-49 |
PFAM |
Pfam:Met_10
|
145 |
229 |
2.3e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138300
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148644
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136423
|
SMART Domains |
Protein: ENSMUSP00000134723 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177084
|
SMART Domains |
Protein: ENSMUSP00000135675 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
29 |
260 |
4.1e-76 |
PFAM |
Pfam:Met_10
|
117 |
231 |
4.1e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177286
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177423
|
SMART Domains |
Protein: ENSMUSP00000135327 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
47 |
262 |
1.4e-66 |
PFAM |
Pfam:Met_10
|
138 |
252 |
5.6e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177260
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175884
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177531
|
SMART Domains |
Protein: ENSMUSP00000135540 Gene: ENSMUSG00000001909
Domain | Start | End | E-Value | Type |
Pfam:TRM
|
54 |
174 |
1.8e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,825,785 (GRCm39) |
D1018G |
possibly damaging |
Het |
Adgrg1 |
T |
A |
8: 95,738,193 (GRCm39) |
L562Q |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,117 (GRCm39) |
T1891A |
probably benign |
Het |
Arid2 |
A |
G |
15: 96,267,831 (GRCm39) |
N648S |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 136,013,085 (GRCm39) |
I312F |
probably damaging |
Het |
Cenpj |
A |
G |
14: 56,790,679 (GRCm39) |
S457P |
probably benign |
Het |
Cep120 |
G |
A |
18: 53,873,284 (GRCm39) |
|
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,471,190 (GRCm39) |
I493L |
possibly damaging |
Het |
Cfap97d1 |
A |
T |
11: 101,882,314 (GRCm39) |
R106S |
probably benign |
Het |
Csmd3 |
T |
C |
15: 48,655,209 (GRCm39) |
D31G |
possibly damaging |
Het |
Cstf3 |
T |
C |
2: 104,439,466 (GRCm39) |
Y54H |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,299,136 (GRCm39) |
Y3179F |
probably damaging |
Het |
Cyp2s1 |
C |
T |
7: 25,505,291 (GRCm39) |
|
probably null |
Het |
Dll4 |
C |
A |
2: 119,161,510 (GRCm39) |
T364N |
possibly damaging |
Het |
Doc2g |
C |
T |
19: 4,054,466 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
G |
2: 20,793,246 (GRCm39) |
E657G |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,371,577 (GRCm39) |
|
probably null |
Het |
Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
Gpat3 |
A |
G |
5: 101,039,505 (GRCm39) |
|
probably benign |
Het |
H2-Q4 |
A |
G |
17: 35,602,071 (GRCm39) |
H311R |
possibly damaging |
Het |
Hipk4 |
T |
C |
7: 27,223,372 (GRCm39) |
L144S |
probably damaging |
Het |
Hspa4 |
G |
A |
11: 53,161,806 (GRCm39) |
P449S |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,363,638 (GRCm39) |
V90A |
probably damaging |
Het |
Klhl38 |
T |
C |
15: 58,185,953 (GRCm39) |
I259V |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,080,503 (GRCm39) |
E414D |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
Manba |
G |
A |
3: 135,269,023 (GRCm39) |
E643K |
possibly damaging |
Het |
Mc3r |
T |
A |
2: 172,090,799 (GRCm39) |
L7Q |
probably benign |
Het |
Mdga1 |
G |
A |
17: 30,057,453 (GRCm39) |
P788S |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,105 (GRCm39) |
F13S |
probably damaging |
Het |
Or6c70 |
T |
A |
10: 129,709,855 (GRCm39) |
Y257F |
probably damaging |
Het |
Pcdh12 |
G |
A |
18: 38,416,667 (GRCm39) |
R153* |
probably null |
Het |
Plk3 |
T |
C |
4: 116,990,647 (GRCm39) |
Y89C |
probably damaging |
Het |
Prss41 |
G |
A |
17: 24,056,596 (GRCm39) |
R160* |
probably null |
Het |
Rae1 |
T |
A |
2: 172,848,666 (GRCm39) |
|
probably benign |
Het |
Rbm17 |
T |
A |
2: 11,600,246 (GRCm39) |
|
probably benign |
Het |
Recql4 |
A |
T |
15: 76,588,694 (GRCm39) |
M1039K |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slit3 |
A |
G |
11: 35,566,806 (GRCm39) |
Y1026C |
probably damaging |
Het |
Tbl2 |
T |
A |
5: 135,185,375 (GRCm39) |
|
probably null |
Het |
Tex2 |
G |
A |
11: 106,402,770 (GRCm39) |
T1034I |
unknown |
Het |
Tmem241 |
A |
T |
18: 12,200,167 (GRCm39) |
|
probably benign |
Het |
Tmtc1 |
T |
C |
6: 148,256,389 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
Vps37d |
G |
A |
5: 135,103,304 (GRCm39) |
Q113* |
probably null |
Het |
Zup1 |
T |
C |
10: 33,816,218 (GRCm39) |
E242G |
possibly damaging |
Het |
|
Other mutations in Trmt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Trmt1
|
APN |
8 |
85,422,138 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01959:Trmt1
|
APN |
8 |
85,418,005 (GRCm39) |
splice site |
probably null |
|
IGL02127:Trmt1
|
APN |
8 |
85,424,100 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02689:Trmt1
|
APN |
8 |
85,426,385 (GRCm39) |
unclassified |
probably benign |
|
IGL03087:Trmt1
|
APN |
8 |
85,421,862 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02835:Trmt1
|
UTSW |
8 |
85,423,589 (GRCm39) |
missense |
probably null |
1.00 |
PIT4418001:Trmt1
|
UTSW |
8 |
85,424,299 (GRCm39) |
missense |
probably damaging |
0.97 |
R0395:Trmt1
|
UTSW |
8 |
85,423,741 (GRCm39) |
splice site |
probably null |
|
R0964:Trmt1
|
UTSW |
8 |
85,423,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Trmt1
|
UTSW |
8 |
85,415,896 (GRCm39) |
intron |
probably benign |
|
R2190:Trmt1
|
UTSW |
8 |
85,416,470 (GRCm39) |
nonsense |
probably null |
|
R2197:Trmt1
|
UTSW |
8 |
85,417,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R2979:Trmt1
|
UTSW |
8 |
85,423,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R4407:Trmt1
|
UTSW |
8 |
85,424,384 (GRCm39) |
unclassified |
probably benign |
|
R4461:Trmt1
|
UTSW |
8 |
85,425,778 (GRCm39) |
missense |
probably benign |
0.01 |
R4588:Trmt1
|
UTSW |
8 |
85,417,382 (GRCm39) |
intron |
probably benign |
|
R5170:Trmt1
|
UTSW |
8 |
85,421,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Trmt1
|
UTSW |
8 |
85,423,919 (GRCm39) |
nonsense |
probably null |
|
R6614:Trmt1
|
UTSW |
8 |
85,415,962 (GRCm39) |
missense |
probably benign |
|
R6666:Trmt1
|
UTSW |
8 |
85,425,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7669:Trmt1
|
UTSW |
8 |
85,424,180 (GRCm39) |
missense |
probably benign |
0.05 |
R7952:Trmt1
|
UTSW |
8 |
85,415,969 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9784:Trmt1
|
UTSW |
8 |
85,424,330 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Trmt1
|
UTSW |
8 |
85,425,827 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1176:Trmt1
|
UTSW |
8 |
85,424,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGAAATCAGTTAACAAGTGGCC -3'
(R):5'- ATGGACAGTGATGACCCTCC -3'
Sequencing Primer
(F):5'- GCTGGGGTTTAGCTCAGCATTAAAAC -3'
(R):5'- GTGATGACCCTCCAAACAACTCTG -3'
|
Posted On |
2015-04-02 |