Incidental Mutation 'IGL02012:Trmt10b'
| ID |
183393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt10b
|
| Ensembl Gene |
ENSMUSG00000035601 |
| Gene Name |
tRNA methyltransferase 10B |
| Synonyms |
2610042J10Rik, Rg9mtd3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
IGL02012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45297127-45316131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45315045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 292
(R292H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030003]
[ENSMUST00000044673]
[ENSMUST00000107800]
|
| AlphaFold |
Q9D075 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030003
|
| SMART Domains |
Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S1
|
111 |
180 |
4e-36 |
BLAST |
|
Pfam:KH_6
|
196 |
243 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044673
AA Change: R294H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601
AA Change: R294H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
135 |
308 |
2.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107800
AA Change: R292H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601
AA Change: R292H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
133 |
306 |
1.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152056
|
| SMART Domains |
Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S1
|
24 |
93 |
8e-38 |
BLAST |
|
Pfam:KH_6
|
109 |
145 |
8e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,266,214 (GRCm39) |
D309E |
possibly damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,701 (GRCm39) |
C40S |
possibly damaging |
Het |
| Cops8 |
T |
C |
1: 90,539,956 (GRCm39) |
V204A |
probably damaging |
Het |
| Cstdc5 |
T |
G |
16: 36,187,802 (GRCm39) |
D21A |
possibly damaging |
Het |
| Dchs1 |
T |
G |
7: 105,413,504 (GRCm39) |
T1104P |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,435,529 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
G |
A |
11: 22,051,218 (GRCm39) |
P420S |
probably damaging |
Het |
| Eif1ad |
T |
G |
19: 5,418,687 (GRCm39) |
V80G |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,577 (GRCm39) |
Y3004H |
possibly damaging |
Het |
| Fbxo11 |
C |
T |
17: 88,320,079 (GRCm39) |
R211Q |
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,810,499 (GRCm39) |
N146S |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,199,662 (GRCm39) |
N334K |
probably benign |
Het |
| Gm45234 |
C |
A |
6: 124,723,011 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,323,069 (GRCm39) |
F1157I |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,167,638 (GRCm39) |
W64L |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,126,152 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,973,894 (GRCm39) |
I390T |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,674,764 (GRCm39) |
V351M |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,491 (GRCm39) |
I635M |
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,104 (GRCm39) |
L431P |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,847 (GRCm39) |
N463S |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,158 (GRCm39) |
C182R |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,333 (GRCm39) |
V3068A |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,022 (GRCm39) |
S88T |
probably benign |
Het |
| Prx |
A |
G |
7: 27,217,326 (GRCm39) |
E748G |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,148,773 (GRCm39) |
|
probably null |
Het |
| Tuft1 |
A |
G |
3: 94,529,462 (GRCm39) |
|
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,445,070 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trmt10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Trmt10b
|
APN |
4 |
45,314,347 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01743:Trmt10b
|
APN |
4 |
45,305,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02174:Trmt10b
|
APN |
4 |
45,308,508 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0454:Trmt10b
|
UTSW |
4 |
45,304,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Trmt10b
|
UTSW |
4 |
45,304,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1757:Trmt10b
|
UTSW |
4 |
45,307,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Trmt10b
|
UTSW |
4 |
45,314,378 (GRCm39) |
nonsense |
probably null |
|
|
R2944:Trmt10b
|
UTSW |
4 |
45,300,445 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4781:Trmt10b
|
UTSW |
4 |
45,305,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5802:Trmt10b
|
UTSW |
4 |
45,314,236 (GRCm39) |
unclassified |
probably benign |
|
|
R6400:Trmt10b
|
UTSW |
4 |
45,308,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Trmt10b
|
UTSW |
4 |
45,314,322 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7165:Trmt10b
|
UTSW |
4 |
45,308,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Trmt10b
|
UTSW |
4 |
45,308,520 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8399:Trmt10b
|
UTSW |
4 |
45,305,870 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8805:Trmt10b
|
UTSW |
4 |
45,301,281 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9778:Trmt10b
|
UTSW |
4 |
45,314,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation