Incidental Mutation 'R1881:Trmt1'
| ID |
209118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1
|
| Ensembl Gene |
ENSMUSG00000001909 |
| Gene Name |
tRNA methyltransferase 1 |
| Synonyms |
6720406L13Rik, D8Ertd812e |
| MMRRC Submission |
039902-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.737)
|
| Stock # |
R1881 (G1)
|
| Quality Score |
155 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85412953-85426437 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 85415896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000001975]
[ENSMUST00000109767]
[ENSMUST00000109768]
[ENSMUST00000125370]
[ENSMUST00000131700]
[ENSMUST00000177084]
[ENSMUST00000152301]
[ENSMUST00000175784]
[ENSMUST00000143427]
[ENSMUST00000177531]
[ENSMUST00000177423]
|
| 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 |
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 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: ENSMUST00000128537
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000176053
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000175980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150085
|
| 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 |
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000177364
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.3%
|
| Validation Efficiency |
96% (71/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,161,213 (GRCm39) |
Y1026* |
probably null |
Het |
| Acaca |
T |
G |
11: 84,191,297 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,678,503 (GRCm39) |
M483I |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,904,078 (GRCm39) |
G735S |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,100,173 (GRCm39) |
T2612A |
probably benign |
Het |
| Armc1 |
A |
T |
3: 19,189,060 (GRCm39) |
S202T |
possibly damaging |
Het |
| Arsj |
T |
C |
3: 126,232,486 (GRCm39) |
S411P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,888,862 (GRCm39) |
V247A |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,562,842 (GRCm39) |
D935G |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,898,170 (GRCm39) |
V1626F |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,535,266 (GRCm39) |
R255S |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,196,656 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cstf3 |
A |
T |
2: 104,484,563 (GRCm39) |
M396L |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 31,005,227 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
A |
T |
17: 46,962,888 (GRCm39) |
Y173F |
probably damaging |
Het |
| Dach1 |
A |
T |
14: 98,138,832 (GRCm39) |
M537K |
probably benign |
Het |
| Ddhd2 |
T |
C |
8: 26,217,727 (GRCm39) |
I717V |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,213,742 (GRCm39) |
V475I |
probably damaging |
Het |
| Dnm3 |
C |
T |
1: 162,305,517 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,405,597 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
A |
T |
16: 36,620,941 (GRCm39) |
|
probably benign |
Het |
| En1 |
T |
A |
1: 120,530,904 (GRCm39) |
V48E |
unknown |
Het |
| Eral1 |
T |
A |
11: 77,966,875 (GRCm39) |
H180L |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,401,511 (GRCm39) |
C2760S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Ifnl2 |
T |
A |
7: 28,209,112 (GRCm39) |
R68W |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,990 (GRCm39) |
G7S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,752,868 (GRCm39) |
E52* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,891,446 (GRCm39) |
I189V |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,688,420 (GRCm39) |
Q619L |
probably damaging |
Het |
| Or14a257 |
T |
C |
7: 86,138,646 (GRCm39) |
M38V |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,179,492 (GRCm39) |
T7S |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,536,472 (GRCm39) |
I98T |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,850,876 (GRCm39) |
T161A |
probably benign |
Het |
| Phf8-ps |
T |
A |
17: 33,284,258 (GRCm39) |
D848V |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,232,582 (GRCm39) |
V472A |
probably benign |
Het |
| Plek |
A |
T |
11: 16,940,111 (GRCm39) |
N176K |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,535,239 (GRCm39) |
N168S |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,033,336 (GRCm39) |
S716T |
probably damaging |
Het |
| Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,557,408 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
T |
5: 31,194,155 (GRCm39) |
L634Q |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,202 (GRCm39) |
I235V |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,004,167 (GRCm39) |
L407Q |
probably damaging |
Het |
| Spata32 |
T |
C |
11: 103,101,561 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,723,783 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,744,130 (GRCm39) |
V726A |
probably benign |
Het |
| Tmed7 |
A |
T |
18: 46,721,622 (GRCm39) |
|
probably null |
Het |
| Tmem161a |
G |
A |
8: 70,633,435 (GRCm39) |
G94S |
probably null |
Het |
| Tmem81 |
T |
A |
1: 132,435,948 (GRCm39) |
|
probably benign |
Het |
| Trim63 |
C |
A |
4: 134,043,702 (GRCm39) |
A55E |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,079 (GRCm39) |
S1023P |
possibly damaging |
Het |
| Upk3bl |
G |
A |
5: 136,086,157 (GRCm39) |
R31Q |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,921,993 (GRCm39) |
D290G |
probably benign |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
| Vmn1r26 |
T |
A |
6: 57,985,650 (GRCm39) |
T180S |
probably benign |
Het |
| Wdr48 |
G |
T |
9: 119,738,606 (GRCm39) |
V89L |
probably benign |
Het |
| Wdr6 |
G |
T |
9: 108,450,378 (GRCm39) |
|
probably null |
Het |
| Zfp345 |
A |
G |
2: 150,314,275 (GRCm39) |
Y421H |
probably 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 |
|
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 |
|
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'- TCTAAAGGTGCAGAGTGCC -3'
(R):5'- TGGACCCAACAGAGGCTAAG -3'
Sequencing Primer
(F):5'- GCAGAGTGCCTCCGCTTTTTG -3'
(R):5'- GCGGCTCAGATTTCCCAAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation