Incidental Mutation 'IGL00718:Mettl14'
| ID |
13612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl14
|
| Ensembl Gene |
ENSMUSG00000028114 |
| Gene Name |
methyltransferase 14, N6-adenosine-methyltransferase subunit |
| Synonyms |
G430022H21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
123161944-123179639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123164988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 334
(I334M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029759]
[ENSMUST00000090371]
[ENSMUST00000174006]
[ENSMUST00000174323]
|
| AlphaFold |
Q3UIK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029759
AA Change: I334M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: I334M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
90 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
186 |
363 |
2.7e-66 |
PFAM |
|
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090371
|
| SMART Domains |
Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
90 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
186 |
289 |
3e-33 |
PFAM |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174006
AA Change: I117M
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: I117M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
28 |
146 |
6e-45 |
PFAM |
|
low complexity region
|
180 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174323
AA Change: I334M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: I334M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
90 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
186 |
360 |
7.3e-63 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C9orf72 |
A |
T |
4: 35,213,015 (GRCm39) |
L220H |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,140,502 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,962,012 (GRCm39) |
E163G |
probably benign |
Het |
| Decr1 |
C |
A |
4: 15,933,056 (GRCm39) |
D37Y |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,755,613 (GRCm39) |
I282V |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,922 (GRCm39) |
K1064R |
possibly damaging |
Het |
| Insrr |
G |
T |
3: 87,720,981 (GRCm39) |
|
probably null |
Het |
| Kcnt1 |
C |
T |
2: 25,782,419 (GRCm39) |
T186M |
probably damaging |
Het |
| Mical3 |
G |
T |
6: 121,017,410 (GRCm39) |
H135Q |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,535,335 (GRCm39) |
N211I |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,196,562 (GRCm39) |
V230A |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,874 (GRCm39) |
Y751H |
possibly damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
| Scara3 |
G |
A |
14: 66,168,876 (GRCm39) |
T247I |
possibly damaging |
Het |
| Snx19 |
T |
A |
9: 30,343,622 (GRCm39) |
L594Q |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,135,906 (GRCm39) |
V2251A |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,266,901 (GRCm39) |
S1895P |
probably benign |
Het |
| Vps4a |
A |
G |
8: 107,769,258 (GRCm39) |
N261S |
probably benign |
Het |
|
| Other mutations in Mettl14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Mettl14
|
APN |
3 |
123,165,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01614:Mettl14
|
APN |
3 |
123,167,609 (GRCm39) |
splice site |
probably benign |
|
|
IGL02219:Mettl14
|
APN |
3 |
123,168,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02960:Mettl14
|
APN |
3 |
123,168,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Mettl14
|
UTSW |
3 |
123,165,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Mettl14
|
UTSW |
3 |
123,165,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Mettl14
|
UTSW |
3 |
123,176,475 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0468:Mettl14
|
UTSW |
3 |
123,165,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Mettl14
|
UTSW |
3 |
123,168,411 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1181:Mettl14
|
UTSW |
3 |
123,167,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Mettl14
|
UTSW |
3 |
123,167,722 (GRCm39) |
splice site |
probably benign |
|
|
R4256:Mettl14
|
UTSW |
3 |
123,177,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Mettl14
|
UTSW |
3 |
123,163,063 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4845:Mettl14
|
UTSW |
3 |
123,165,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Mettl14
|
UTSW |
3 |
123,168,474 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6476:Mettl14
|
UTSW |
3 |
123,167,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Mettl14
|
UTSW |
3 |
123,168,503 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7682:Mettl14
|
UTSW |
3 |
123,177,253 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7808:Mettl14
|
UTSW |
3 |
123,166,234 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8044:Mettl14
|
UTSW |
3 |
123,163,309 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8381:Mettl14
|
UTSW |
3 |
123,168,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Mettl14
|
UTSW |
3 |
123,167,693 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9518:Mettl14
|
UTSW |
3 |
123,167,687 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2012-12-06 |
Incidental Mutation