Incidental Mutation 'R6503:Mettl18'
| ID |
519837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl18
|
| Ensembl Gene |
ENSMUSG00000041396 |
| Gene Name |
methyltransferase like 18 |
| Synonyms |
2810422O20Rik |
| MMRRC Submission |
044635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R6503 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
163822458-163824812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163824687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 336
(V336A)
|
| 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: V336A
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: V336A
| 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: V336A
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: V336A
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
T |
7: 78,747,580 (GRCm39) |
A784S |
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,721,649 (GRCm39) |
S204P |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,883,054 (GRCm39) |
N625D |
possibly damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,425 (GRCm39) |
T78I |
possibly damaging |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,285 (GRCm39) |
C259S |
probably benign |
Het |
| Enah |
C |
T |
1: 181,746,076 (GRCm39) |
G402R |
probably damaging |
Het |
| Epha6 |
T |
A |
16: 60,025,984 (GRCm39) |
H486L |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,036,406 (GRCm39) |
M3353V |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,812,540 (GRCm39) |
Q170L |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,943,549 (GRCm39) |
G216S |
probably damaging |
Het |
| Krt8 |
T |
A |
15: 101,906,369 (GRCm39) |
Y380F |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,531,715 (GRCm39) |
D146V |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,926,042 (GRCm39) |
D342G |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,922 (GRCm39) |
S205P |
possibly damaging |
Het |
| Parp10 |
G |
A |
15: 76,126,684 (GRCm39) |
R195C |
probably damaging |
Het |
| Pcdha1 |
G |
A |
18: 37,064,724 (GRCm39) |
V463M |
probably damaging |
Het |
| Prb1c |
C |
A |
6: 132,338,655 (GRCm39) |
G188* |
probably null |
Het |
| Rb1 |
T |
C |
14: 73,443,320 (GRCm39) |
I778V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,448,810 (GRCm39) |
S3619T |
probably benign |
Het |
| St18 |
A |
T |
1: 6,865,621 (GRCm39) |
D33V |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,302,682 (GRCm39) |
S1014P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,163,658 (GRCm39) |
D40G |
probably benign |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
A |
G |
3: 83,848,251 (GRCm39) |
S300P |
probably benign |
Het |
|
| Other mutations in Mettl18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Mettl18
|
APN |
1 |
163,823,795 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCTCATTCTCACTTCAGAAAC -3'
(R):5'- TGAGGCTACTACTTCTATACTTTGC -3'
Sequencing Primer
(F):5'- CACTTCAGAAACCATTTATAATCCGG -3'
(R):5'- AAAAACACCAAACCGTAATTTCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation