Incidental Mutation 'IGL01584:Trdmt1'
| ID |
91468 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trdmt1
|
| Ensembl Gene |
ENSMUSG00000026723 |
| Gene Name |
tRNA aspartic acid methyltransferase 1 |
| Synonyms |
Rnmt2, Dnmt2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
IGL01584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
13513825-13549479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13524739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 239
(R239G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124488]
[ENSMUST00000144957]
|
| AlphaFold |
O55055 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124488
AA Change: R239G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114572
Gene: ENSMUSG00000026723
AA Change: R239G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_methylase
|
4 |
391 |
1.6e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144957
|
| SMART Domains |
Protein: ENSMUSP00000141758
Gene: ENSMUSG00000026723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_methylase
|
4 |
84 |
4.7e-13 |
PFAM |
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,195,749 (GRCm39) |
V570A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,748,637 (GRCm39) |
S323P |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,687,170 (GRCm39) |
D445N |
probably damaging |
Het |
| Cdc14a |
A |
T |
3: 116,186,474 (GRCm39) |
Y102* |
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,472 (GRCm39) |
|
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,653 (GRCm39) |
S279P |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,511,567 (GRCm39) |
Q1514R |
probably damaging |
Het |
| Dtx2 |
G |
A |
5: 136,055,420 (GRCm39) |
S369N |
possibly damaging |
Het |
| Dusp11 |
A |
G |
6: 85,930,376 (GRCm39) |
F136S |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,047,632 (GRCm39) |
D227G |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,120,773 (GRCm39) |
V1215E |
unknown |
Het |
| Flg2 |
A |
T |
3: 93,122,777 (GRCm39) |
D1649V |
unknown |
Het |
| Gabbr2 |
T |
C |
4: 46,674,524 (GRCm39) |
K821R |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,590,761 (GRCm39) |
T516A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,668 (GRCm39) |
*64K |
probably null |
Het |
| Gm5900 |
T |
C |
7: 104,599,361 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rb |
A |
G |
14: 29,725,637 (GRCm39) |
F121S |
probably damaging |
Het |
| Ip6k3 |
C |
A |
17: 27,370,034 (GRCm39) |
R128L |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,754,250 (GRCm39) |
|
probably benign |
Het |
| Lrrn4 |
A |
G |
2: 132,719,996 (GRCm39) |
L268P |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,966,738 (GRCm39) |
S332R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,495 (GRCm39) |
V61I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,569 (GRCm39) |
E25G |
probably damaging |
Het |
| Prima1 |
A |
T |
12: 103,169,047 (GRCm39) |
|
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,616,644 (GRCm39) |
|
probably null |
Het |
| Sema5b |
G |
T |
16: 35,465,793 (GRCm39) |
C114F |
probably damaging |
Het |
| Spata31f1e |
A |
C |
4: 42,794,014 (GRCm39) |
S39R |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,943 (GRCm39) |
Y126C |
probably benign |
Het |
| Tmem171 |
T |
C |
13: 98,828,683 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
T |
A |
15: 80,763,883 (GRCm39) |
W462R |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,796,350 (GRCm39) |
V583E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,602,111 (GRCm39) |
V639A |
probably benign |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,964 (GRCm39) |
K81R |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,197 (GRCm39) |
I599M |
probably benign |
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 |
|
|
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 |
|
R2231:Trdmt1
|
UTSW |
2 |
13,530,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation