Incidental Mutation 'R3929:Trmo'
ID |
308625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmo
|
Ensembl Gene |
ENSMUSG00000028331 |
Gene Name |
tRNA methyltransferase O |
Synonyms |
5830415F09Rik |
MMRRC Submission |
040824-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3929 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
46376505-46389437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46382647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 150
(G150S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030015]
[ENSMUST00000086563]
[ENSMUST00000151903]
|
AlphaFold |
Q562D6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030015
AA Change: G150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030015 Gene: ENSMUSG00000028331 AA Change: G150S
Domain | Start | End | E-Value | Type |
Pfam:UPF0066
|
42 |
165 |
2.3e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086563
AA Change: G150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083752 Gene: ENSMUSG00000028331 AA Change: G150S
Domain | Start | End | E-Value | Type |
Pfam:UPF0066
|
44 |
164 |
1.2e-46 |
PFAM |
low complexity region
|
431 |
442 |
N/A |
INTRINSIC |
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151903
AA Change: G157S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119785 Gene: ENSMUSG00000028331 AA Change: G157S
Domain | Start | End | E-Value | Type |
Pfam:UPF0066
|
49 |
172 |
4.1e-45 |
PFAM |
|
Meta Mutation Damage Score |
0.5877 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak5 |
A |
C |
3: 152,373,444 (GRCm39) |
L18R |
probably damaging |
Het |
Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
C9 |
T |
A |
15: 6,496,939 (GRCm39) |
I212N |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,587,452 (GRCm39) |
|
probably null |
Het |
Ccnf |
A |
G |
17: 24,453,356 (GRCm39) |
V361A |
probably damaging |
Het |
Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
Dmrta1 |
C |
T |
4: 89,579,681 (GRCm39) |
Q214* |
probably null |
Het |
E230025N22Rik |
T |
C |
18: 36,824,625 (GRCm39) |
D112G |
probably damaging |
Het |
Frat1 |
T |
C |
19: 41,819,087 (GRCm39) |
C161R |
probably damaging |
Het |
H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
Itpr2 |
C |
A |
6: 146,275,857 (GRCm39) |
|
probably null |
Het |
Klhl40 |
A |
G |
9: 121,609,742 (GRCm39) |
D509G |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,356,629 (GRCm39) |
V1072A |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,520,064 (GRCm39) |
Y2340H |
probably damaging |
Het |
Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
Or2y17 |
A |
T |
11: 49,231,820 (GRCm39) |
M154L |
probably benign |
Het |
Or51a43 |
C |
T |
7: 103,717,791 (GRCm39) |
C149Y |
probably benign |
Het |
Or5be3 |
T |
A |
2: 86,864,428 (GRCm39) |
I46F |
possibly damaging |
Het |
Or6c2 |
G |
A |
10: 129,362,100 (GRCm39) |
M1I |
probably null |
Het |
Prdm10 |
T |
C |
9: 31,258,432 (GRCm39) |
I619T |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,422,868 (GRCm39) |
T71A |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
Sin3a |
A |
G |
9: 57,025,421 (GRCm39) |
N1089S |
probably damaging |
Het |
St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
Stap2 |
A |
C |
17: 56,310,156 (GRCm39) |
F50V |
probably damaging |
Het |
Stkld1 |
T |
A |
2: 26,830,059 (GRCm39) |
|
probably null |
Het |
Tars3 |
A |
G |
7: 65,333,791 (GRCm39) |
|
probably null |
Het |
Tbl1xr1 |
G |
C |
3: 22,243,932 (GRCm39) |
D69H |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,614,176 (GRCm39) |
I46T |
probably benign |
Het |
Vmn2r19 |
T |
C |
6: 123,292,587 (GRCm39) |
Y210H |
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,870,926 (GRCm39) |
S584P |
possibly damaging |
Het |
|
Other mutations in Trmo |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00593:Trmo
|
APN |
4 |
46,382,490 (GRCm39) |
missense |
probably benign |
|
IGL01296:Trmo
|
APN |
4 |
46,387,589 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01308:Trmo
|
APN |
4 |
46,377,053 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01544:Trmo
|
APN |
4 |
46,386,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01545:Trmo
|
APN |
4 |
46,386,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01722:Trmo
|
APN |
4 |
46,386,092 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02085:Trmo
|
APN |
4 |
46,380,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02927:Trmo
|
APN |
4 |
46,387,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Trmo
|
UTSW |
4 |
46,377,083 (GRCm39) |
utr 3 prime |
probably benign |
|
R0745:Trmo
|
UTSW |
4 |
46,382,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R1365:Trmo
|
UTSW |
4 |
46,380,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Trmo
|
UTSW |
4 |
46,380,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R3928:Trmo
|
UTSW |
4 |
46,382,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R4497:Trmo
|
UTSW |
4 |
46,382,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Trmo
|
UTSW |
4 |
46,382,388 (GRCm39) |
missense |
probably benign |
0.00 |
R4980:Trmo
|
UTSW |
4 |
46,389,364 (GRCm39) |
nonsense |
probably null |
|
R5209:Trmo
|
UTSW |
4 |
46,387,740 (GRCm39) |
missense |
probably damaging |
0.99 |
R5639:Trmo
|
UTSW |
4 |
46,382,073 (GRCm39) |
missense |
probably benign |
0.00 |
R5855:Trmo
|
UTSW |
4 |
46,382,568 (GRCm39) |
missense |
probably benign |
0.43 |
R6151:Trmo
|
UTSW |
4 |
46,389,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Trmo
|
UTSW |
4 |
46,387,716 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8684:Trmo
|
UTSW |
4 |
46,386,253 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8684:Trmo
|
UTSW |
4 |
46,386,251 (GRCm39) |
nonsense |
probably null |
|
R8823:Trmo
|
UTSW |
4 |
46,382,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Trmo
|
UTSW |
4 |
46,387,625 (GRCm39) |
missense |
probably benign |
0.01 |
R9039:Trmo
|
UTSW |
4 |
46,382,322 (GRCm39) |
missense |
probably benign |
0.00 |
R9331:Trmo
|
UTSW |
4 |
46,387,642 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGCGAGGCTGTACTTTC -3'
(R):5'- AATGACGTGTTCTATGAGAGCCTTG -3'
Sequencing Primer
(F):5'- GAGGCTGTACTTTCCCACG -3'
(R):5'- ACGTGTTCTATGAGAGCCTTGAAGAG -3'
|
Posted On |
2015-04-17 |