Incidental Mutation 'IGL03025:Trdmt1'
ID |
408139 |
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 # |
IGL03025
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
13513825-13549479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 13528246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 105
(I105N)
|
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 damaging
Transcript: ENSMUST00000124488
AA Change: I105N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114572 Gene: ENSMUSG00000026723 AA Change: I105N
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
|
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 |
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 |
2016-08-02 |