Incidental Mutation 'IGL03231:Trmt6'
| ID |
413920 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt6
|
| Ensembl Gene |
ENSMUSG00000037376 |
| Gene Name |
tRNA methyltransferase 6 |
| Synonyms |
3300001M20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL03231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132646127-132657975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132657756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 33
(D33E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028831]
[ENSMUST00000039554]
[ENSMUST00000066559]
|
| AlphaFold |
Q8CE96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028831
|
| SMART Domains |
Protein: ENSMUSP00000028831
Gene: ENSMUSG00000027353
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
Blast:MCM
|
79 |
155 |
2e-28 |
BLAST |
|
MCM
|
198 |
742 |
2.42e-136 |
SMART |
|
AAA
|
439 |
590 |
5.99e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039554
AA Change: D33E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376
AA Change: D33E
| 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 |
probably benign
Transcript: ENSMUST00000066559
|
| SMART Domains |
Protein: ENSMUSP00000066842
Gene: ENSMUSG00000027353
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Blast:MCM
|
51 |
127 |
2e-28 |
BLAST |
|
MCM
|
170 |
714 |
2.42e-136 |
SMART |
|
AAA
|
411 |
562 |
5.99e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147336
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
| Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
| Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
| Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
| Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
| Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
| Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
| Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
| Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
| Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
| Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
| Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
| Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
| Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
probably 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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation