Incidental Mutation 'R0060:Trmt6'
ID |
64388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt6
|
Ensembl Gene |
ENSMUSG00000037376 |
Gene Name |
tRNA methyltransferase 6 |
Synonyms |
3300001M20Rik |
MMRRC Submission |
038353-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R0060 (G1)
|
Quality Score |
112 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
132646127-132657975 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 132648689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 415
(R415Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039554]
|
AlphaFold |
Q8CE96 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039554
AA Change: R415Q
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044687 Gene: ENSMUSG00000037376 AA Change: R415Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145117
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152836
|
Meta Mutation Damage Score |
0.1780 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
98% (60/61) |
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 |
1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Cabcoco1 |
A |
T |
10: 68,369,692 (GRCm39) |
|
probably null |
Het |
Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
Cst11 |
T |
A |
2: 148,612,322 (GRCm39) |
Q105L |
probably damaging |
Het |
Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
Or2b4 |
T |
C |
17: 38,116,891 (GRCm39) |
L285P |
probably damaging |
Het |
Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
Pard3b |
G |
A |
1: 61,678,474 (GRCm39) |
E25K |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 42,836,197 (GRCm39) |
Y8* |
probably null |
Het |
Phf14 |
T |
C |
6: 11,953,316 (GRCm39) |
S352P |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Prap1 |
G |
T |
7: 139,673,390 (GRCm39) |
|
probably benign |
Het |
Prdm8 |
T |
A |
5: 98,333,119 (GRCm39) |
F229I |
probably benign |
Het |
Rfx6 |
T |
C |
10: 51,553,936 (GRCm39) |
F11L |
probably benign |
Het |
Rfx8 |
T |
A |
1: 39,757,565 (GRCm39) |
|
probably benign |
Het |
Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
Ripk4 |
G |
A |
16: 97,564,718 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
A |
17: 52,047,231 (GRCm39) |
I695F |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
Tcerg1 |
C |
T |
18: 42,657,073 (GRCm39) |
A185V |
unknown |
Het |
Tep1 |
T |
A |
14: 51,103,486 (GRCm39) |
D268V |
probably damaging |
Het |
Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably damaging |
Het |
Zcchc4 |
T |
A |
5: 52,964,420 (GRCm39) |
I292N |
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 |
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 |
R8016:Trmt6
|
UTSW |
2 |
132,651,826 (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'- ACTGCCACTGTAAAACCGTGACTC -3'
(R):5'- TGGCTCACATTGGCCTAGTACTCC -3'
Sequencing Primer
(F):5'- ACCGTGACTCTATTTAAACAACG -3'
(R):5'- tgtgtagttccagccaacc -3'
|
Posted On |
2013-08-06 |