Incidental Mutation 'R2295:Trmt11'
| ID |
245148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt11
|
| Ensembl Gene |
ENSMUSG00000019792 |
| Gene Name |
tRNA methyltransferase 11 |
| Synonyms |
2410075D05Rik, 3110045I18Rik |
| MMRRC Submission |
040294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R2295 (G1)
|
| Quality Score |
217 |
|
Status
|
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: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,082 (GRCm39) |
F151S |
probably damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,291 (GRCm39) |
I638V |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
| Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
| Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
| Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,020,817 (GRCm39) |
V134A |
possibly damaging |
Het |
| Olfml2b |
G |
A |
1: 170,490,107 (GRCm39) |
|
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
| Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
| Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
| Svopl |
C |
A |
6: 37,996,668 (GRCm39) |
A270S |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably 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 |
|
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 |
|
|
R2293: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'- CCGAGTGCACCAAGTTCAAC -3'
(R):5'- AGGGGTAAAATACTGAGCTACATC -3'
Sequencing Primer
(F):5'- GAGTGCACCAAGTTCAACATCTG -3'
(R):5'- ATACTGAGCTACATCTTTTGGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation