Incidental Mutation 'R5855:Trmo'
| ID |
454854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmo
|
| Ensembl Gene |
ENSMUSG00000028331 |
| Gene Name |
tRNA methyltransferase O |
| Synonyms |
5830415F09Rik |
| MMRRC Submission |
043229-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5855 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46376505-46389437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46382568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 183
(H183L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030015]
[ENSMUST00000086563]
[ENSMUST00000151903]
|
| AlphaFold |
Q562D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030015
AA Change: H176L
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030015
Gene: ENSMUSG00000028331
AA Change: H176L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
42 |
165 |
2.3e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086563
AA Change: H176L
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083752
Gene: ENSMUSG00000028331
AA Change: H176L
| 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 benign
Transcript: ENSMUST00000151903
AA Change: H183L
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119785
Gene: ENSMUSG00000028331
AA Change: H183L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
49 |
172 |
4.1e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
| Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
| Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
| Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
| Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
| Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
| Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
| Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
| Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
| Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
| Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
| Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
| Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
| Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
| Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
| Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
| Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
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 |
|
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 |
|
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'- TCTCTGTCTTCTGGCAAAGTG -3'
(R):5'- GAGACTTAGGGGATAATCCTGCC -3'
Sequencing Primer
(F):5'- CAAAGTGTGCTGGATTTCTGAC -3'
(R):5'- GGGATAATCCTGCCCTCCATTTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation