Incidental Mutation 'R2190:Trmt1'
| ID |
238037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1
|
| Ensembl Gene |
ENSMUSG00000001909 |
| Gene Name |
tRNA methyltransferase 1 |
| Synonyms |
6720406L13Rik, D8Ertd812e |
| MMRRC Submission |
040192-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.737)
|
| Stock # |
R2190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85412953-85426437 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 85416470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 64
(K64*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000001975]
[ENSMUST00000109767]
[ENSMUST00000109768]
[ENSMUST00000125370]
[ENSMUST00000143427]
[ENSMUST00000152301]
[ENSMUST00000175784]
[ENSMUST00000177084]
[ENSMUST00000131700]
[ENSMUST00000177531]
[ENSMUST00000177423]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001974
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909
AA Change: K64*
| 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 |
probably benign
Transcript: ENSMUST00000001975
|
| SMART Domains |
Protein: ENSMUSP00000001975
Gene: ENSMUSG00000001910
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
124 |
4.05e-25 |
SMART |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
281 |
N/A |
INTRINSIC |
|
BEN
|
382 |
457 |
6.4e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000077990
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109767
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000105389
Gene: ENSMUSG00000001909
AA Change: K64*
| 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 null
Transcript: ENSMUST00000109768
AA Change: K57*
|
| SMART Domains |
Protein: ENSMUSP00000105390
Gene: ENSMUSG00000001909
AA Change: K57*
| 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 null
Transcript: ENSMUST00000125370
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000135510
Gene: ENSMUSG00000001909
AA Change: K64*
| 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 |
probably null
Transcript: ENSMUST00000143427
AA Change: K57*
|
| SMART Domains |
Protein: ENSMUSP00000117140
Gene: ENSMUSG00000001909
AA Change: K57*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
47 |
98 |
3.2e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152301
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000116712
Gene: ENSMUSG00000001909
AA Change: K64*
| 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 |
probably null
Transcript: ENSMUST00000175784
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000135273
Gene: ENSMUSG00000001909
AA Change: K64*
| 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 |
probably null
Transcript: ENSMUST00000177084
AA Change: K39*
|
| SMART Domains |
Protein: ENSMUSP00000135675
Gene: ENSMUSG00000001909
AA Change: K39*
| 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 |
probably null
Transcript: ENSMUST00000131700
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000122526
Gene: ENSMUSG00000001909
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
54 |
108 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175870
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177531
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000135540
Gene: ENSMUSG00000001909
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM
|
54 |
174 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177423
AA Change: K57*
|
| SMART Domains |
Protein: ENSMUSP00000135327
Gene: ENSMUSG00000001909
AA Change: K57*
| 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: ENSMUST00000177364
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,766,785 (GRCm39) |
T56S |
probably damaging |
Het |
| Acbd6 |
A |
T |
1: 155,500,652 (GRCm39) |
H204L |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,383,551 (GRCm39) |
M1L |
probably benign |
Het |
| Adgrg5 |
A |
T |
8: 95,660,579 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,219,487 (GRCm39) |
T474A |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,782,365 (GRCm39) |
D252G |
possibly damaging |
Het |
| Aspg |
G |
T |
12: 112,091,322 (GRCm39) |
E501D |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,136,049 (GRCm39) |
I387T |
probably damaging |
Het |
| Bub1 |
T |
C |
2: 127,652,645 (GRCm39) |
N574S |
probably benign |
Het |
| Casr |
G |
A |
16: 36,315,778 (GRCm39) |
T764M |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,295,639 (GRCm39) |
S259P |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,241 (GRCm39) |
N181I |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,091,260 (GRCm39) |
D89G |
probably benign |
Het |
| Col25a1 |
C |
T |
3: 130,378,364 (GRCm39) |
P606S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,680,491 (GRCm39) |
S582P |
possibly damaging |
Het |
| Dlg4 |
A |
G |
11: 69,933,430 (GRCm39) |
D619G |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,331 (GRCm39) |
V129I |
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,366,552 (GRCm39) |
I965T |
probably benign |
Het |
| Fbxw16 |
G |
A |
9: 109,265,739 (GRCm39) |
S360L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,221,330 (GRCm39) |
Y158C |
probably damaging |
Het |
| Gm44511 |
A |
G |
6: 128,803,163 (GRCm39) |
I16T |
possibly damaging |
Het |
| Has2 |
C |
A |
15: 56,531,183 (GRCm39) |
V511F |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,109,185 (GRCm39) |
R1025C |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,864,408 (GRCm39) |
Y233C |
probably benign |
Het |
| Il36rn |
A |
T |
2: 24,170,831 (GRCm39) |
I43F |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,678,988 (GRCm39) |
I465N |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,663,904 (GRCm39) |
N423K |
probably damaging |
Het |
| Itga2 |
C |
A |
13: 115,007,141 (GRCm39) |
V396L |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,874,685 (GRCm39) |
T212A |
possibly damaging |
Het |
| Lipo2 |
A |
T |
19: 33,725,969 (GRCm39) |
N94K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,390,869 (GRCm39) |
T1519A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,353,005 (GRCm39) |
V1558A |
probably benign |
Het |
| Mocos |
C |
A |
18: 24,797,114 (GRCm39) |
H91Q |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,310,487 (GRCm39) |
T132I |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,322,237 (GRCm39) |
D803E |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,704,018 (GRCm39) |
I173N |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,115,573 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Or5b105 |
T |
G |
19: 13,079,857 (GRCm39) |
K270N |
probably damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,486 (GRCm39) |
Y86C |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,709 (GRCm39) |
S520G |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,852,529 (GRCm39) |
Q239* |
probably null |
Het |
| Rab13 |
A |
G |
3: 90,130,851 (GRCm39) |
E68G |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,201 (GRCm39) |
E797G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,261,937 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,508,893 (GRCm39) |
T518A |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,068,661 (GRCm39) |
I132V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,544,601 (GRCm39) |
I4514N |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,848,579 (GRCm39) |
S87R |
probably damaging |
Het |
| Thap4 |
G |
T |
1: 93,678,381 (GRCm39) |
P135Q |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,741,156 (GRCm39) |
E57G |
probably benign |
Het |
| Tnrc18 |
C |
T |
5: 142,761,644 (GRCm39) |
V594I |
unknown |
Het |
| Usf2 |
A |
G |
7: 30,654,606 (GRCm39) |
V198A |
probably damaging |
Het |
| Usp14 |
A |
T |
18: 10,007,835 (GRCm39) |
C168S |
probably damaging |
Het |
| Vav3 |
C |
A |
3: 109,470,130 (GRCm39) |
T525K |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,151 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,085 (GRCm39) |
D236G |
possibly damaging |
Het |
| Wdr19 |
G |
A |
5: 65,401,509 (GRCm39) |
V975I |
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 |
|
|
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 |
|
R3813:Trmt1
|
UTSW |
8 |
85,421,846 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TCCCTTCTCTCGAAAACGGC -3'
(R):5'- GACTAATGCTGACGCCTCTCTAC -3'
Sequencing Primer
(F):5'- TCTCGAAAACGGCAGGCG -3'
(R):5'- ACCAACTTTTCTCTTCCTTTGAGTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation