Incidental Mutation 'R6614:Trmt1'
ID |
543539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt1
|
Ensembl Gene |
ENSMUSG00000001909 |
Gene Name |
tRNA methyltransferase 1 |
Synonyms |
6720406L13Rik, D8Ertd812e |
MMRRC Submission |
044737-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.737)
|
Stock # |
R6614 (G1)
|
Quality Score |
43.0073 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85412953-85426437 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 85415962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 7
(V7L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001974]
[ENSMUST00000109767]
[ENSMUST00000109768]
[ENSMUST00000131700]
[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 |
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
AA Change: V7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105390 Gene: ENSMUSG00000001909 AA Change: V7L
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: 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: ENSMUST00000143427
AA Change: V7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117140 Gene: ENSMUSG00000001909 AA Change: V7L
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 |
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 |
probably benign
Transcript: ENSMUST00000177423
AA Change: V7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135327 Gene: ENSMUSG00000001909 AA Change: V7L
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 |
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
T |
A |
8: 125,587,986 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
T |
11: 9,244,371 (GRCm39) |
N2078I |
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,807,800 (GRCm39) |
I814V |
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,084,193 (GRCm39) |
R557G |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,095,899 (GRCm39) |
I70N |
probably benign |
Het |
Bysl |
A |
T |
17: 47,912,767 (GRCm39) |
L341Q |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 17,266,803 (GRCm39) |
G41D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,850,411 (GRCm39) |
D4221G |
possibly damaging |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,470,349 (GRCm39) |
|
probably null |
Het |
Elavl1 |
C |
A |
8: 4,339,818 (GRCm39) |
A255S |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,723,121 (GRCm39) |
G1166D |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,454,235 (GRCm39) |
Y184C |
probably damaging |
Het |
Ifit3b |
A |
T |
19: 34,588,919 (GRCm39) |
S32C |
probably benign |
Het |
Kcnh7 |
T |
G |
2: 62,607,940 (GRCm39) |
Y547S |
probably damaging |
Het |
Lima1 |
G |
A |
15: 99,681,461 (GRCm39) |
A243V |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,234,610 (GRCm39) |
I67F |
possibly damaging |
Het |
Ncor1 |
A |
C |
11: 62,221,645 (GRCm39) |
M1283R |
probably benign |
Het |
Ndufv1 |
G |
A |
19: 4,058,749 (GRCm39) |
T253I |
probably benign |
Het |
Neurog1 |
G |
T |
13: 56,399,637 (GRCm39) |
Q37K |
probably benign |
Het |
Nol4 |
T |
G |
18: 23,053,913 (GRCm39) |
K200Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,903,627 (GRCm39) |
H7599R |
probably benign |
Het |
Oog4 |
A |
G |
4: 143,164,445 (GRCm39) |
V362A |
possibly damaging |
Het |
Oosp1 |
T |
A |
19: 11,668,314 (GRCm39) |
D23V |
probably damaging |
Het |
Or11a4 |
T |
C |
17: 37,536,790 (GRCm39) |
V258A |
probably benign |
Het |
Or11g24 |
C |
T |
14: 50,662,546 (GRCm39) |
T190I |
probably benign |
Het |
Or4k1 |
T |
A |
14: 50,377,821 (GRCm39) |
I92F |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,536,494 (GRCm39) |
I91L |
probably benign |
Het |
Or7a41 |
C |
A |
10: 78,870,925 (GRCm39) |
C98* |
probably null |
Het |
P2rx3 |
A |
G |
2: 84,865,543 (GRCm39) |
I34T |
probably damaging |
Het |
Pate7 |
A |
G |
9: 35,688,421 (GRCm39) |
W55R |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,717,986 (GRCm39) |
V621E |
probably benign |
Het |
Prpf39 |
T |
G |
12: 65,089,337 (GRCm39) |
V25G |
probably benign |
Het |
Psd |
T |
C |
19: 46,301,851 (GRCm39) |
K913E |
probably benign |
Het |
Ptx4 |
A |
T |
17: 25,341,676 (GRCm39) |
R50S |
possibly damaging |
Het |
Rex2 |
A |
T |
4: 147,137,018 (GRCm39) |
M16L |
probably benign |
Het |
Serac1 |
A |
T |
17: 6,095,937 (GRCm39) |
V604E |
probably damaging |
Het |
Sp140l2 |
A |
C |
1: 85,179,781 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
A |
10: 82,127,482 (GRCm39) |
N1843Y |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stxbp6 |
T |
A |
12: 44,908,058 (GRCm39) |
T187S |
probably benign |
Het |
Tg |
G |
A |
15: 66,607,108 (GRCm39) |
C215Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,407,142 (GRCm38) |
K671* |
probably null |
Het |
Ttn |
C |
T |
2: 76,615,174 (GRCm39) |
R15102H |
probably benign |
Het |
Unc79 |
A |
T |
12: 102,957,689 (GRCm39) |
I35F |
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 |
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 |
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 |
|
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'- GTGAAACTCCCTTGTAGAAGAGTTG -3'
(R):5'- AAATCCGGTGGCCTCCATAAC -3'
Sequencing Primer
(F):5'- CCCACTGTAGGTAATGTCT -3'
(R):5'- ATAACATCCTGCGTTCTCGAGGG -3'
|
Posted On |
2019-02-22 |