Incidental Mutation 'R1365:Trmo'
| ID |
155995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmo
|
| Ensembl Gene |
ENSMUSG00000028331 |
| Gene Name |
tRNA methyltransferase O |
| Synonyms |
5830415F09Rik |
| MMRRC Submission |
039430-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1365 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46376505-46389437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46380278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 364
(S364P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030015]
[ENSMUST00000086563]
[ENSMUST00000151903]
|
| AlphaFold |
Q562D6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030015
AA Change: S357P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030015
Gene: ENSMUSG00000028331
AA Change: S357P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
42 |
165 |
2.3e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086563
AA Change: S357P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083752
Gene: ENSMUSG00000028331
AA Change: S357P
| 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: S364P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119785
Gene: ENSMUSG00000028331
AA Change: S364P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
49 |
172 |
4.1e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,527,129 (GRCm39) |
Q185L |
probably damaging |
Het |
| Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,872,564 (GRCm39) |
Q546* |
probably null |
Het |
| Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
| Gtf2b |
T |
C |
3: 142,477,227 (GRCm39) |
I33T |
probably damaging |
Het |
| Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
| Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,162 (GRCm39) |
V361I |
probably benign |
Het |
| Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,767,852 (GRCm39) |
D419G |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
| Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,891,528 (GRCm39) |
E10G |
probably damaging |
Het |
| Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
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 |
|
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 |
|
R3929: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'- ACACCAGCAATGACTTTCCTGAGG -3'
(R):5'- TCGGACAACTCCAGCTTGTCTTG -3'
Sequencing Primer
(F):5'- CTTCTGAAAACACAGTGGGC -3'
(R):5'- GGCCTATGTAAAATACACAGCG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation