Incidental Mutation 'R2310:Trmt6'
ID |
244727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt6
|
Ensembl Gene |
ENSMUSG00000037376 |
Gene Name |
tRNA methyltransferase 6 |
Synonyms |
3300001M20Rik |
MMRRC Submission |
040309-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R2310 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
132646127-132657975 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 132650832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 259
(P259T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039554]
|
AlphaFold |
Q8CE96 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039554
AA Change: P259T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044687 Gene: ENSMUSG00000037376 AA Change: P259T
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 |
0.8137 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
Validation Efficiency |
100% (39/39) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
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 |
|
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'- CCCCAGGAACAATCTCCATTGG -3'
(R):5'- TCTCCACCCTGTAGACATGG -3'
Sequencing Primer
(F):5'- AACAATCTCCATTGGTCTCTGTTC -3'
(R):5'- AACCGTGTGAGGACTTGGGC -3'
|
Posted On |
2014-10-30 |