Incidental Mutation 'IGL02960:Mettl14'
| ID |
365307 |
| 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 # |
IGL02960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
123161944-123179639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123168534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 169
(Y169H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029759]
[ENSMUST00000090371]
[ENSMUST00000174006]
[ENSMUST00000174323]
|
| AlphaFold |
Q3UIK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029759
AA Change: Y169H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: Y169H
| 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 damaging
Transcript: ENSMUST00000090371
AA Change: Y169H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114
AA Change: Y169H
| 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 |
probably benign
Transcript: ENSMUST00000174006
|
| SMART Domains |
Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
| 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 |
possibly damaging
Transcript: ENSMUST00000174323
AA Change: Y169H
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: Y169H
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,257 (GRCm39) |
R14C |
probably benign |
Het |
| Adam29 |
A |
T |
8: 56,325,701 (GRCm39) |
L251* |
probably null |
Het |
| Atpaf2 |
T |
C |
11: 60,296,650 (GRCm39) |
E161G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,858,666 (GRCm39) |
D381G |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,446,712 (GRCm39) |
R45* |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,367,615 (GRCm39) |
E273G |
unknown |
Het |
| Cuzd1 |
T |
C |
7: 130,921,832 (GRCm39) |
N57D |
probably benign |
Het |
| Cyp2b13 |
A |
G |
7: 25,761,101 (GRCm39) |
K53E |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,276 (GRCm39) |
E203G |
probably benign |
Het |
| Gm3159 |
G |
A |
14: 4,400,552 (GRCm38) |
|
probably null |
Het |
| Gpr137c |
T |
C |
14: 45,483,890 (GRCm39) |
F206L |
possibly damaging |
Het |
| Hephl1 |
G |
T |
9: 14,995,615 (GRCm39) |
T471N |
probably damaging |
Het |
| Ido1 |
A |
T |
8: 25,083,345 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,285,797 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,147,025 (GRCm39) |
L613H |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,149,155 (GRCm39) |
Q254R |
probably benign |
Het |
| Or4c15 |
A |
C |
2: 88,760,128 (GRCm39) |
M177R |
possibly damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,371 (GRCm39) |
I126N |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,078 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,447,670 (GRCm39) |
M2241K |
possibly damaging |
Het |
| Ptprd |
G |
A |
4: 76,047,105 (GRCm39) |
S387L |
probably damaging |
Het |
| Ryr1 |
A |
C |
7: 28,759,478 (GRCm39) |
L3264R |
probably damaging |
Het |
| Serpina16 |
G |
A |
12: 103,641,638 (GRCm39) |
T29I |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,382 (GRCm39) |
M237T |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,428,544 (GRCm39) |
T300A |
probably benign |
Het |
| Tcaf1 |
A |
C |
6: 42,663,393 (GRCm39) |
D162E |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,717,217 (GRCm39) |
|
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,947 (GRCm39) |
H398Q |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,389,389 (GRCm39) |
T303M |
probably benign |
Het |
| Vmn2r86 |
A |
C |
10: 130,289,636 (GRCm39) |
D86E |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,175,870 (GRCm39) |
C822S |
probably benign |
Het |
| Zp3r |
T |
C |
1: 130,511,175 (GRCm39) |
D336G |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,849 (GRCm39) |
H82R |
probably damaging |
Het |
|
| Other mutations in Mettl14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Mettl14
|
APN |
3 |
123,164,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation