Incidental Mutation 'R8016:Trmt6'
| ID |
617162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt6
|
| Ensembl Gene |
ENSMUSG00000037376 |
| Gene Name |
tRNA methyltransferase 6 |
| Synonyms |
3300001M20Rik |
| MMRRC Submission |
067456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R8016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132646127-132657975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132651826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 198
(I198N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039554]
|
| AlphaFold |
Q8CE96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039554
AA Change: I198N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376
AA Change: I198N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:Gcd10p
|
20 |
302 |
7.2e-74 |
PFAM |
|
coiled coil region
|
345 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
456 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8734 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,583,926 (GRCm39) |
M105K |
probably benign |
Het |
| Acer2 |
T |
C |
4: 86,804,443 (GRCm39) |
F53L |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,252,668 (GRCm39) |
V307A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,726,370 (GRCm39) |
I193V |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,790,226 (GRCm39) |
T489M |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,357,733 (GRCm39) |
V133D |
unknown |
Het |
| Btla |
T |
C |
16: 45,070,950 (GRCm39) |
V304A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,334,007 (GRCm39) |
I878N |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,450,784 (GRCm39) |
I398N |
possibly damaging |
Het |
| Clcnka |
A |
T |
4: 141,117,463 (GRCm39) |
S445T |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,727 (GRCm39) |
V1187A |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,787,712 (GRCm39) |
V664A |
unknown |
Het |
| Crb2 |
C |
A |
2: 37,676,568 (GRCm39) |
A183E |
possibly damaging |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,951 (GRCm39) |
V188I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,022,864 (GRCm39) |
N1043K |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,475,876 (GRCm39) |
R1376H |
probably benign |
Het |
| Foxj1 |
A |
G |
11: 116,222,675 (GRCm39) |
F376S |
probably damaging |
Het |
| Hsd17b11 |
A |
T |
5: 104,169,526 (GRCm39) |
I27N |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,251 (GRCm39) |
V528A |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,139,329 (GRCm39) |
V283A |
probably benign |
Het |
| Nup54 |
G |
A |
5: 92,582,176 (GRCm39) |
T45I |
unknown |
Het |
| Or4c100 |
G |
A |
2: 88,356,517 (GRCm39) |
V197I |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,588 (GRCm39) |
M1V |
probably null |
Het |
| Pbld2 |
T |
C |
10: 62,883,744 (GRCm39) |
F70L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,239,476 (GRCm39) |
S951P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,118,314 (GRCm39) |
C558* |
probably null |
Het |
| Slc12a6 |
A |
T |
2: 112,186,899 (GRCm39) |
H966L |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,297,740 (GRCm39) |
V176D |
probably damaging |
Het |
| St6galnac3 |
G |
T |
3: 152,911,129 (GRCm39) |
H277Q |
probably damaging |
Het |
| Syde2 |
T |
A |
3: 145,707,727 (GRCm39) |
D822E |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,681 (GRCm39) |
E1853D |
probably benign |
Het |
| Tigd4 |
T |
C |
3: 84,501,971 (GRCm39) |
V296A |
possibly damaging |
Het |
| Tmed4 |
A |
T |
11: 6,224,242 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
A |
G |
4: 41,195,201 (GRCm39) |
S1117P |
possibly damaging |
Het |
| Wasl |
A |
T |
6: 24,634,594 (GRCm39) |
Y103N |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,228 (GRCm39) |
D150G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,838,848 (GRCm39) |
V105D |
possibly damaging |
Het |
|
| Other mutations in Trmt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02314:Trmt6
|
APN |
2 |
132,647,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02604:Trmt6
|
APN |
2 |
132,652,357 (GRCm39) |
nonsense |
probably null |
|
|
IGL03216:Trmt6
|
APN |
2 |
132,650,618 (GRCm39) |
missense |
probably null |
|
|
IGL03231:Trmt6
|
APN |
2 |
132,657,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0060:Trmt6
|
UTSW |
2 |
132,648,689 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0060:Trmt6
|
UTSW |
2 |
132,648,689 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0086:Trmt6
|
UTSW |
2 |
132,650,937 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0485:Trmt6
|
UTSW |
2 |
132,650,950 (GRCm39) |
splice site |
probably benign |
|
|
R0827:Trmt6
|
UTSW |
2 |
132,657,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Trmt6
|
UTSW |
2 |
132,657,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1757:Trmt6
|
UTSW |
2 |
132,652,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1974:Trmt6
|
UTSW |
2 |
132,652,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Trmt6
|
UTSW |
2 |
132,648,829 (GRCm39) |
nonsense |
probably null |
|
|
R2310:Trmt6
|
UTSW |
2 |
132,650,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Trmt6
|
UTSW |
2 |
132,650,191 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5288:Trmt6
|
UTSW |
2 |
132,650,703 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5385:Trmt6
|
UTSW |
2 |
132,650,703 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5386:Trmt6
|
UTSW |
2 |
132,650,703 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6546:Trmt6
|
UTSW |
2 |
132,654,073 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6815:Trmt6
|
UTSW |
2 |
132,651,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Trmt6
|
UTSW |
2 |
132,652,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:Trmt6
|
UTSW |
2 |
132,650,774 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9446:Trmt6
|
UTSW |
2 |
132,650,774 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9482:Trmt6
|
UTSW |
2 |
132,648,699 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9639:Trmt6
|
UTSW |
2 |
132,650,862 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTATTCTTAAAGCAACTCGATC -3'
(R):5'- AGCTTGCTCACCTGCATAAAG -3'
Sequencing Primer
(F):5'- AAAGCAACTCGATCTGGTTCTC -3'
(R):5'- AAATTGTAAGTCCTTTTACTGTCGCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation