Incidental Mutation 'R2231:Trdmt1'
| ID |
240024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trdmt1
|
| Ensembl Gene |
ENSMUSG00000026723 |
| Gene Name |
tRNA aspartic acid methyltransferase 1 |
| Synonyms |
Rnmt2, Dnmt2 |
| MMRRC Submission |
040232-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
R2231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
13513825-13549479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13530436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 82
(F82I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124488]
[ENSMUST00000144957]
|
| AlphaFold |
O55055 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028055
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124488
AA Change: F82I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114572
Gene: ENSMUSG00000026723
AA Change: F82I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_methylase
|
4 |
391 |
1.6e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144957
AA Change: F82I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141758
Gene: ENSMUSG00000026723
AA Change: F82I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_methylase
|
4 |
84 |
4.7e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased proportion of natural killer cells in the peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
G |
A |
1: 36,739,440 (GRCm39) |
R336W |
probably damaging |
Het |
| Alkbh6 |
G |
A |
7: 30,012,015 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,359,925 (GRCm39) |
M1V |
probably null |
Het |
| Cblb |
T |
A |
16: 52,014,635 (GRCm39) |
S895T |
probably benign |
Het |
| Cdk8 |
A |
T |
5: 146,168,414 (GRCm39) |
|
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,648 (GRCm39) |
V320I |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
T |
C |
16: 20,323,520 (GRCm39) |
Y424H |
probably benign |
Het |
| Enoph1 |
C |
T |
5: 100,188,136 (GRCm39) |
T20I |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,103 (GRCm39) |
|
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or5b12b |
A |
G |
19: 12,861,313 (GRCm39) |
I23V |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,768,725 (GRCm39) |
F403L |
possibly damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,959 (GRCm39) |
T134A |
probably benign |
Het |
| Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,378 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,543,767 (GRCm39) |
D257E |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,462,916 (GRCm39) |
E1040G |
possibly damaging |
Het |
| Sgce |
T |
C |
6: 4,730,066 (GRCm39) |
K53E |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,171,590 (GRCm39) |
T254A |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,191,313 (GRCm39) |
Y180C |
probably benign |
Het |
| Ssna1 |
G |
T |
2: 25,162,019 (GRCm39) |
N58K |
possibly damaging |
Het |
| Tbx3 |
C |
A |
5: 119,815,589 (GRCm39) |
N296K |
probably damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,309 (GRCm39) |
T264A |
unknown |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,079,023 (GRCm39) |
A425V |
probably benign |
Het |
| Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,421 (GRCm39) |
T282M |
possibly damaging |
Het |
|
| Other mutations in Trdmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Trdmt1
|
APN |
2 |
13,526,071 (GRCm39) |
splice site |
probably null |
|
|
IGL01584:Trdmt1
|
APN |
2 |
13,524,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02491:Trdmt1
|
APN |
2 |
13,521,483 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03025:Trdmt1
|
APN |
2 |
13,528,246 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0167:Trdmt1
|
UTSW |
2 |
13,520,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Trdmt1
|
UTSW |
2 |
13,549,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Trdmt1
|
UTSW |
2 |
13,521,459 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Trdmt1
|
UTSW |
2 |
13,549,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0735:Trdmt1
|
UTSW |
2 |
13,528,249 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1102:Trdmt1
|
UTSW |
2 |
13,528,225 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Trdmt1
|
UTSW |
2 |
13,524,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1610:Trdmt1
|
UTSW |
2 |
13,520,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Trdmt1
|
UTSW |
2 |
13,516,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Trdmt1
|
UTSW |
2 |
13,516,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Trdmt1
|
UTSW |
2 |
13,524,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2339:Trdmt1
|
UTSW |
2 |
13,524,871 (GRCm39) |
nonsense |
probably null |
|
|
R3703:Trdmt1
|
UTSW |
2 |
13,526,108 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3735:Trdmt1
|
UTSW |
2 |
13,524,684 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4751:Trdmt1
|
UTSW |
2 |
13,549,464 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6258:Trdmt1
|
UTSW |
2 |
13,524,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6260:Trdmt1
|
UTSW |
2 |
13,524,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6799:Trdmt1
|
UTSW |
2 |
13,520,824 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7329:Trdmt1
|
UTSW |
2 |
13,520,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8126:Trdmt1
|
UTSW |
2 |
13,524,816 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8941:Trdmt1
|
UTSW |
2 |
13,526,918 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGGATTCCTATGCTCGATG -3'
(R):5'- AGCTGCGTTGTAAAGCTGTG -3'
Sequencing Primer
(F):5'- TGGGAAGATTCTATGCCCCAGTAC -3'
(R):5'- TAAAGCTGTGCTGTGGTATGGAAAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation