Incidental Mutation 'IGL02319:Trmt11'
| ID |
288163 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt11
|
| Ensembl Gene |
ENSMUSG00000019792 |
| Gene Name |
tRNA methyltransferase 11 |
| Synonyms |
2410075D05Rik, 3110045I18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
IGL02319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
30410221-30476745 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30436869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 290
(D290E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019927]
[ENSMUST00000215595]
[ENSMUST00000216790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019927
AA Change: D290E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019927
Gene: ENSMUSG00000019792
AA Change: D290E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0020
|
189 |
324 |
1.9e-14 |
PFAM |
|
Pfam:Methyltransf_26
|
216 |
373 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216790
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
| Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
| Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
| Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
| Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
| Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
| Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
| Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,550,885 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
| Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
| Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
| Other mutations in Trmt11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Trmt11
|
APN |
10 |
30,442,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01586:Trmt11
|
APN |
10 |
30,473,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02307:Trmt11
|
APN |
10 |
30,470,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02622:Trmt11
|
APN |
10 |
30,435,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0047:Trmt11
|
UTSW |
10 |
30,411,239 (GRCm39) |
missense |
probably benign |
|
|
R0047:Trmt11
|
UTSW |
10 |
30,411,239 (GRCm39) |
missense |
probably benign |
|
|
R0269:Trmt11
|
UTSW |
10 |
30,463,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1240:Trmt11
|
UTSW |
10 |
30,466,821 (GRCm39) |
intron |
probably benign |
|
|
R1694:Trmt11
|
UTSW |
10 |
30,411,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1765:Trmt11
|
UTSW |
10 |
30,435,184 (GRCm39) |
missense |
probably benign |
|
|
R2293:Trmt11
|
UTSW |
10 |
30,423,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2295:Trmt11
|
UTSW |
10 |
30,423,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2857:Trmt11
|
UTSW |
10 |
30,423,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4631:Trmt11
|
UTSW |
10 |
30,435,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5684:Trmt11
|
UTSW |
10 |
30,423,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Trmt11
|
UTSW |
10 |
30,436,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6022:Trmt11
|
UTSW |
10 |
30,463,497 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7044:Trmt11
|
UTSW |
10 |
30,466,930 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7459:Trmt11
|
UTSW |
10 |
30,466,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7538:Trmt11
|
UTSW |
10 |
30,436,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Trmt11
|
UTSW |
10 |
30,463,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Trmt11
|
UTSW |
10 |
30,463,497 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8116:Trmt11
|
UTSW |
10 |
30,442,490 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8988:Trmt11
|
UTSW |
10 |
30,467,027 (GRCm39) |
missense |
probably benign |
|
|
R9225:Trmt11
|
UTSW |
10 |
30,423,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Trmt11
|
UTSW |
10 |
30,434,938 (GRCm39) |
nonsense |
probably null |
|
|
R9555:Trmt11
|
UTSW |
10 |
30,470,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9690:Trmt11
|
UTSW |
10 |
30,436,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation