Incidental Mutation 'R6687:Mettl18'
ID |
527817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mettl18
|
Ensembl Gene |
ENSMUSG00000041396 |
Gene Name |
methyltransferase like 18 |
Synonyms |
2810422O20Rik |
MMRRC Submission |
044805-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6687 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
163822458-163824812 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 163824369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 230
(D230G)
|
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: D230G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000048636 Gene: ENSMUSG00000041396 AA Change: D230G
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: D230G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107116 Gene: ENSMUSG00000041396 AA Change: D230G
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: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
probably damaging |
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 |
R6503:Mettl18
|
UTSW |
1 |
163,824,687 (GRCm39) |
missense |
possibly damaging |
0.94 |
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'- AAGTGAAATTTGCTGGGCAG -3'
(R):5'- CCGGCCACTCCTACTTAATAG -3'
Sequencing Primer
(F):5'- CAGAAAGTGTTAGACCTTGGCTG -3'
(R):5'- CATGCAAAGTGCTGTAATAATCCGG -3'
|
Posted On |
2018-07-23 |