Incidental Mutation 'IGL00771:Trmt10a'
ID |
14587 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trmt10a
|
Ensembl Gene |
ENSMUSG00000004127 |
Gene Name |
tRNA methyltransferase 10A |
Synonyms |
3110023L08Rik, Rg9mtd2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00771
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
137849214-137865582 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137856216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 159
(D159G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040321]
[ENSMUST00000159481]
[ENSMUST00000159622]
[ENSMUST00000161141]
[ENSMUST00000162864]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040321
AA Change: D159G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000042082 Gene: ENSMUSG00000004127 AA Change: D159G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
82 |
N/A |
INTRINSIC |
Pfam:tRNA_m1G_MT
|
111 |
277 |
3.7e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159481
|
SMART Domains |
Protein: ENSMUSP00000124465 Gene: ENSMUSG00000004127
Domain | Start | End | E-Value | Type |
coiled coil region
|
44 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159622
|
SMART Domains |
Protein: ENSMUSP00000130478 Gene: ENSMUSG00000004127
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161141
AA Change: D159G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000125681 Gene: ENSMUSG00000004127 AA Change: D159G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
82 |
N/A |
INTRINSIC |
Pfam:tRNA_m1G_MT
|
111 |
165 |
2.6e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161791
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162864
AA Change: D159G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000125749 Gene: ENSMUSG00000004127 AA Change: D159G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
82 |
N/A |
INTRINSIC |
Pfam:tRNA_m1G_MT
|
111 |
277 |
2.7e-33 |
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 that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating magnesium level. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
G |
17: 48,452,855 (GRCm39) |
L28S |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,240,870 (GRCm39) |
L911Q |
probably damaging |
Het |
Armc9 |
C |
A |
1: 86,127,557 (GRCm39) |
|
probably null |
Het |
Asxl2 |
A |
G |
12: 3,524,560 (GRCm39) |
H196R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,404,354 (GRCm39) |
D1329G |
probably benign |
Het |
Cds2 |
T |
C |
2: 132,146,272 (GRCm39) |
|
probably benign |
Het |
Cep295 |
A |
T |
9: 15,233,861 (GRCm39) |
C2184S |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,394,890 (GRCm39) |
F623L |
possibly damaging |
Het |
Dmd |
G |
A |
X: 82,951,978 (GRCm39) |
|
probably null |
Het |
F11r |
T |
A |
1: 171,290,510 (GRCm39) |
|
probably null |
Het |
Gbp3 |
C |
T |
3: 142,271,005 (GRCm39) |
|
probably benign |
Het |
Gpc4 |
A |
G |
X: 51,163,527 (GRCm39) |
S119P |
possibly damaging |
Het |
H2-M10.2 |
A |
G |
17: 36,597,288 (GRCm39) |
L9P |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,053,106 (GRCm39) |
D144G |
probably damaging |
Het |
Jaml |
A |
G |
9: 45,005,105 (GRCm39) |
K124E |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,005,802 (GRCm39) |
N950S |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,669,511 (GRCm39) |
D1099V |
probably damaging |
Het |
Mlxipl |
C |
T |
5: 135,161,632 (GRCm39) |
T517I |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,274,512 (GRCm39) |
R308C |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,013,567 (GRCm39) |
L561* |
probably null |
Het |
Prom1 |
A |
T |
5: 44,187,118 (GRCm39) |
|
probably benign |
Het |
Ptprc |
T |
A |
1: 138,041,415 (GRCm39) |
E148V |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,443,835 (GRCm39) |
V224A |
probably damaging |
Het |
Slc7a6 |
T |
C |
8: 106,905,872 (GRCm39) |
S35P |
probably benign |
Het |
Snx17 |
C |
T |
5: 31,354,679 (GRCm39) |
R314C |
probably damaging |
Het |
Spats2l |
T |
C |
1: 57,982,231 (GRCm39) |
L371P |
probably damaging |
Het |
Spsb1 |
C |
T |
4: 149,991,564 (GRCm39) |
M1I |
probably null |
Het |
Sv2a |
G |
A |
3: 96,100,600 (GRCm39) |
V661I |
probably benign |
Het |
Taar7b |
T |
A |
10: 23,876,096 (GRCm39) |
V87E |
probably benign |
Het |
Tcf7l2 |
G |
A |
19: 55,905,853 (GRCm39) |
V292I |
probably damaging |
Het |
Teddm1b |
T |
A |
1: 153,750,340 (GRCm39) |
C50S |
possibly damaging |
Het |
Urod |
T |
C |
4: 116,847,581 (GRCm39) |
N336S |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,567,353 (GRCm39) |
|
probably null |
Het |
Zfp182 |
A |
G |
X: 20,896,896 (GRCm39) |
Y467H |
probably damaging |
Het |
|
Other mutations in Trmt10a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Trmt10a
|
APN |
3 |
137,853,177 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00563:Trmt10a
|
APN |
3 |
137,853,177 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01140:Trmt10a
|
APN |
3 |
137,862,459 (GRCm39) |
splice site |
probably benign |
|
IGL02869:Trmt10a
|
APN |
3 |
137,857,945 (GRCm39) |
splice site |
probably null |
|
R0898:Trmt10a
|
UTSW |
3 |
137,855,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R0975:Trmt10a
|
UTSW |
3 |
137,862,570 (GRCm39) |
missense |
probably benign |
0.41 |
R1511:Trmt10a
|
UTSW |
3 |
137,857,945 (GRCm39) |
splice site |
probably null |
|
R1872:Trmt10a
|
UTSW |
3 |
137,862,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R4856:Trmt10a
|
UTSW |
3 |
137,854,146 (GRCm39) |
nonsense |
probably null |
|
R4880:Trmt10a
|
UTSW |
3 |
137,857,972 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4886:Trmt10a
|
UTSW |
3 |
137,854,146 (GRCm39) |
nonsense |
probably null |
|
R5399:Trmt10a
|
UTSW |
3 |
137,853,265 (GRCm39) |
missense |
probably damaging |
0.97 |
R5516:Trmt10a
|
UTSW |
3 |
137,857,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5994:Trmt10a
|
UTSW |
3 |
137,862,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R7272:Trmt10a
|
UTSW |
3 |
137,860,527 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Trmt10a
|
UTSW |
3 |
137,860,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |