Incidental Mutation 'IGL00926:Mettl18'
| ID |
26644 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl18
|
| Ensembl Gene |
ENSMUSG00000041396 |
| Gene Name |
methyltransferase like 18 |
| Synonyms |
2810422O20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
IGL00926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
163822458-163824812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 163823795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 39
(S39T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045694]
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000111490]
[ENSMUST00000160926]
|
| AlphaFold |
Q9CZ09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045694
AA Change: S39T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: S39T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
150 |
233 |
7.3e-7 |
PFAM |
|
Pfam:PrmA
|
166 |
240 |
2.1e-7 |
PFAM |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045876
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Pfam:DUF4487
|
233 |
779 |
2.3e-209 |
PFAM |
|
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097493
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Pfam:DUF4487
|
233 |
779 |
1.3e-186 |
PFAM |
|
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111490
AA Change: S39T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: S39T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTS
|
147 |
232 |
4.5e-6 |
PFAM |
|
Pfam:Methyltransf_16
|
149 |
233 |
3.6e-7 |
PFAM |
|
Pfam:PrmA
|
166 |
238 |
2.7e-7 |
PFAM |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160926
|
| SMART Domains |
Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162949
|
| 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 |
|---|
| Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
| Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
| Cavin2 |
A |
G |
1: 51,340,036 (GRCm39) |
K238E |
probably damaging |
Het |
| Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
| Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
| Clec4a1 |
T |
A |
6: 122,899,014 (GRCm39) |
C28S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
| Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
T |
A |
4: 116,444,710 (GRCm39) |
|
probably null |
Het |
| Helq |
T |
C |
5: 100,912,948 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
| Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
| Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
| Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
| Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
| Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,155 (GRCm39) |
N423S |
possibly damaging |
Het |
| Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
G |
A |
3: 116,383,884 (GRCm39) |
Q58* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
| Other mutations in Mettl18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Mettl18
|
APN |
1 |
163,823,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0190:Mettl18
|
UTSW |
1 |
163,823,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0394:Mettl18
|
UTSW |
1 |
163,823,910 (GRCm39) |
missense |
probably benign |
|
|
R0562:Mettl18
|
UTSW |
1 |
163,824,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2260:Mettl18
|
UTSW |
1 |
163,824,394 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4293:Mettl18
|
UTSW |
1 |
163,824,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Mettl18
|
UTSW |
1 |
163,824,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Mettl18
|
UTSW |
1 |
163,824,354 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5930:Mettl18
|
UTSW |
1 |
163,824,746 (GRCm39) |
missense |
probably null |
0.00 |
|
R5987:Mettl18
|
UTSW |
1 |
163,824,344 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6503:Mettl18
|
UTSW |
1 |
163,824,687 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6687:Mettl18
|
UTSW |
1 |
163,824,369 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6730:Mettl18
|
UTSW |
1 |
163,824,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Mettl18
|
UTSW |
1 |
163,824,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Mettl18
|
UTSW |
1 |
163,824,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation