Incidental Mutation 'R0898:Trmt10a'
| ID |
83746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt10a
|
| Ensembl Gene |
ENSMUSG00000004127 |
| Gene Name |
tRNA methyltransferase 10A |
| Synonyms |
3110023L08Rik, Rg9mtd2 |
| MMRRC Submission |
039058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0898 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137849214-137865582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137855279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 139
(P139L)
|
| 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 damaging
Transcript: ENSMUST00000040321
AA Change: P139L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042082
Gene: ENSMUSG00000004127
AA Change: P139L
| 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 damaging
Transcript: ENSMUST00000161141
AA Change: P139L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125681
Gene: ENSMUSG00000004127
AA Change: P139L
| 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 damaging
Transcript: ENSMUST00000162864
AA Change: P139L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125749
Gene: ENSMUSG00000004127
AA Change: P139L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
82 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
111 |
277 |
2.7e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197680
|
| Meta Mutation Damage Score |
0.8954 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
T |
A |
1: 134,351,814 (GRCm39) |
|
probably null |
Het |
| Apmap |
A |
G |
2: 150,427,669 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,667,221 (GRCm39) |
N442S |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,075,254 (GRCm39) |
A394V |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,025,964 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,383,055 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,373,153 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
C |
10: 117,512,011 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
G |
C |
5: 109,705,004 (GRCm39) |
P67R |
probably damaging |
Het |
| Ddx59 |
T |
C |
1: 136,344,679 (GRCm39) |
Y117H |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,773 (GRCm39) |
F98L |
probably damaging |
Het |
| Fmn2 |
G |
A |
1: 174,331,026 (GRCm39) |
G472E |
unknown |
Het |
| Gcdh |
T |
C |
8: 85,620,189 (GRCm39) |
H41R |
possibly damaging |
Het |
| Gm7713 |
A |
C |
15: 59,866,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb1 |
T |
C |
4: 131,962,093 (GRCm39) |
T189A |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,570,664 (GRCm39) |
C272Y |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,904,490 (GRCm39) |
|
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,496 (GRCm39) |
I169V |
probably benign |
Het |
| Or14j8 |
T |
C |
17: 38,263,127 (GRCm39) |
T263A |
probably benign |
Het |
| Or8c20 |
G |
A |
9: 38,260,738 (GRCm39) |
V120M |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,026,111 (GRCm39) |
I569V |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,229,063 (GRCm39) |
T1096S |
possibly damaging |
Het |
| Plscr4 |
A |
C |
9: 92,366,806 (GRCm39) |
D140A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,479,332 (GRCm39) |
D1331G |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,248,864 (GRCm39) |
T498A |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,013,001 (GRCm39) |
L372I |
possibly damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,246,880 (GRCm39) |
N120S |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,970,859 (GRCm39) |
V846I |
possibly damaging |
Het |
| Slc16a7 |
A |
G |
10: 125,069,370 (GRCm39) |
I102T |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,349 (GRCm39) |
T506A |
probably damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,744,075 (GRCm39) |
T462A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,224 (GRCm39) |
Y395C |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,923,480 (GRCm39) |
T266A |
probably damaging |
Het |
| Tanc1 |
C |
T |
2: 59,621,132 (GRCm39) |
T317I |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,719 (GRCm39) |
S71P |
probably damaging |
Het |
| Tpgs2 |
G |
A |
18: 25,282,207 (GRCm39) |
P115S |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,051 (GRCm39) |
S400G |
probably benign |
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 |
|
IGL00771:Trmt10a
|
APN |
3 |
137,856,216 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01140:Trmt10a
|
APN |
3 |
137,862,459 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Trmt10a
|
APN |
3 |
137,857,945 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGACTTTTGCCTGCCTGACCATC -3'
(R):5'- TAAACCAGACACGTCTAAGAGGGCCTG -3'
Sequencing Primer
(F):5'- GCCTGACCATCTCTTCTGC -3'
(R):5'- TTCCCACAGTGGAAGGAGTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation