Incidental Mutation 'IGL01135:Trdmt1'
ID |
50599 |
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 # |
IGL01135
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
13513825-13549479 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 13526071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000124488
|
SMART Domains |
Protein: ENSMUSP00000114572 Gene: ENSMUSG00000026723
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
5730507C01Rik |
G |
A |
12: 18,583,375 (GRCm39) |
R145H |
possibly damaging |
Het |
Acox3 |
T |
A |
5: 35,746,096 (GRCm39) |
V93E |
probably benign |
Het |
Ankar |
T |
C |
1: 72,704,378 (GRCm39) |
N848S |
probably benign |
Het |
Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ceacam23 |
A |
T |
7: 17,636,396 (GRCm39) |
|
noncoding transcript |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Ckmt1 |
A |
C |
2: 121,191,631 (GRCm39) |
D267A |
probably damaging |
Het |
Dtl |
G |
T |
1: 191,280,442 (GRCm39) |
T364K |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,877 (GRCm39) |
F2308I |
probably damaging |
Het |
Fbxo41 |
A |
T |
6: 85,454,890 (GRCm39) |
S673T |
probably benign |
Het |
Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,598,855 (GRCm39) |
|
probably benign |
Het |
Grik3 |
C |
T |
4: 125,526,208 (GRCm39) |
T147I |
probably benign |
Het |
Htr1a |
T |
C |
13: 105,581,792 (GRCm39) |
V344A |
possibly damaging |
Het |
Isg20l2 |
A |
T |
3: 87,839,068 (GRCm39) |
D93V |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,282,293 (GRCm39) |
|
probably null |
Het |
Mfsd4b3-ps |
A |
G |
10: 39,824,068 (GRCm39) |
M64T |
probably benign |
Het |
Nox3 |
T |
A |
17: 3,746,527 (GRCm39) |
|
probably benign |
Het |
Or2ag12 |
C |
T |
7: 106,277,400 (GRCm39) |
A98T |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,290,794 (GRCm39) |
N1204K |
probably damaging |
Het |
Pou4f3 |
C |
T |
18: 42,529,031 (GRCm39) |
Q325* |
probably null |
Het |
Rap1a |
T |
A |
3: 105,639,351 (GRCm39) |
T103S |
probably benign |
Het |
Rfc4 |
G |
A |
16: 22,934,526 (GRCm39) |
R165C |
probably damaging |
Het |
Smtnl1 |
A |
G |
2: 84,649,231 (GRCm39) |
S8P |
probably benign |
Het |
Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
Tcf20 |
T |
A |
15: 82,738,101 (GRCm39) |
M1117L |
probably benign |
Het |
Tent5a |
A |
G |
9: 85,208,652 (GRCm39) |
V57A |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
Twf2 |
A |
G |
9: 106,090,027 (GRCm39) |
I127V |
probably benign |
Het |
Unc13c |
A |
G |
9: 73,392,175 (GRCm39) |
V2059A |
probably damaging |
Het |
|
Other mutations in Trdmt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |