Incidental Mutation 'R2293:Trmt11'
| ID |
245081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt11
|
| Ensembl Gene |
ENSMUSG00000019792 |
| Gene Name |
tRNA methyltransferase 11 |
| Synonyms |
2410075D05Rik, 3110045I18Rik |
| MMRRC Submission |
040292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.853)
|
| Stock # |
R2293 (G1)
|
| Quality Score |
82 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
30410221-30476745 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 30423744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 387
(P387R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019927]
[ENSMUST00000215595]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019927
AA Change: P387R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019927
Gene: ENSMUSG00000019792
AA Change: P387R
| 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: ENSMUST00000215595
|
| Meta Mutation Damage Score |
0.3309 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
T |
C |
7: 140,682,428 (GRCm39) |
N640S |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,261,096 (GRCm39) |
I143N |
probably damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,635,297 (GRCm39) |
R869C |
probably damaging |
Het |
| Bcl6 |
T |
C |
16: 23,796,359 (GRCm39) |
N23D |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,483,999 (GRCm39) |
F2939L |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,417,670 (GRCm39) |
T318S |
possibly damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,180 (GRCm39) |
S1009A |
probably benign |
Het |
| Dlx6 |
A |
G |
6: 6,867,246 (GRCm39) |
Y283C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,896,285 (GRCm39) |
Y3550H |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,854,606 (GRCm39) |
S1553G |
probably damaging |
Het |
| Ice1 |
C |
A |
13: 70,763,076 (GRCm39) |
D193Y |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,615,759 (GRCm39) |
L547* |
probably null |
Het |
| Mgat4a |
C |
A |
1: 37,491,673 (GRCm39) |
R215L |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,401,100 (GRCm39) |
T69A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,360,936 (GRCm39) |
T1416A |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,916,887 (GRCm39) |
S1181P |
probably benign |
Het |
| Pip5k1c |
A |
G |
10: 81,149,918 (GRCm39) |
E42G |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
| Slc16a14 |
A |
T |
1: 84,890,564 (GRCm39) |
M247K |
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,878,067 (GRCm39) |
V398E |
probably damaging |
Het |
| Slc44a5 |
C |
A |
3: 153,945,934 (GRCm39) |
L156I |
probably benign |
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 |
|
IGL02319:Trmt11
|
APN |
10 |
30,436,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCAAGTTCAACATCTGC -3'
(R):5'- CCTTCAAGGGGTAAAATACTGAGC -3'
Sequencing Primer
(F):5'- CAGTTAGAATCAAGATGAACATCTCG -3'
(R):5'- ATACTGAGCTACATCTTTTGGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation