Incidental Mutation 'IGL01468:Trmt5'
| ID |
88176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt5
|
| Ensembl Gene |
ENSMUSG00000034442 |
| Gene Name |
TRM5 tRNA methyltransferase 5 |
| Synonyms |
2610027O18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL01468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
73326785-73333484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 73327878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 442
(V442I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116420]
[ENSMUST00000220701]
[ENSMUST00000221189]
|
| AlphaFold |
Q9D0C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116420
AA Change: V442I
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: V442I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Met_10
|
191 |
412 |
4.5e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221189
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
| Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
| Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
| Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
| Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
| Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
| Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
| Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
| Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
| Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
| Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
| Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,350,761 (GRCm39) |
E404V |
probably damaging |
Het |
|
| Other mutations in Trmt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Trmt5
|
APN |
12 |
73,331,693 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01681:Trmt5
|
APN |
12 |
73,329,377 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02502:Trmt5
|
APN |
12 |
73,328,001 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02627:Trmt5
|
APN |
12 |
73,328,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Trmt5
|
APN |
12 |
73,328,232 (GRCm39) |
nonsense |
probably null |
|
|
IGL03390:Trmt5
|
APN |
12 |
73,329,501 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03391:Trmt5
|
APN |
12 |
73,328,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2068:Trmt5
|
UTSW |
12 |
73,331,444 (GRCm39) |
splice site |
probably null |
|
|
R2239:Trmt5
|
UTSW |
12 |
73,331,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2380:Trmt5
|
UTSW |
12 |
73,331,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5169:Trmt5
|
UTSW |
12 |
73,329,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Trmt5
|
UTSW |
12 |
73,331,837 (GRCm39) |
splice site |
probably null |
|
|
R5579:Trmt5
|
UTSW |
12 |
73,328,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7390:Trmt5
|
UTSW |
12 |
73,328,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Trmt5
|
UTSW |
12 |
73,329,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Trmt5
|
UTSW |
12 |
73,331,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Trmt5
|
UTSW |
12 |
73,328,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Trmt5
|
UTSW |
12 |
73,331,568 (GRCm39) |
missense |
probably benign |
|
|
R9277:Trmt5
|
UTSW |
12 |
73,329,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation