Incidental Mutation 'R0745:Trmo'
| ID |
70909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmo
|
| Ensembl Gene |
ENSMUSG00000028331 |
| Gene Name |
tRNA methyltransferase O |
| Synonyms |
5830415F09Rik |
| MMRRC Submission |
038926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46376505-46389437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46382104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 338
(F338L)
|
| 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: F331L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030015
Gene: ENSMUSG00000028331
AA Change: F331L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
42 |
165 |
2.3e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086563
AA Change: F331L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083752
Gene: ENSMUSG00000028331
AA Change: F331L
| 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: F338L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119785
Gene: ENSMUSG00000028331
AA Change: F338L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
49 |
172 |
4.1e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.6675 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
| Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
| Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
| Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
| Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
| Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
| Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
| Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
| Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
| Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ACGCTTTCACCAGTGTCAACCG -3'
(R):5'- TGTCAGAAATCCAGCACACTTTGCC -3'
Sequencing Primer
(F):5'- TGTCAACCGTGACGAGATTC -3'
(R):5'- GATATGCCCGAAAATCAGCTTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation