Incidental Mutation 'IGL00846:Mettl14'
| ID |
11966 |
| 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 # |
IGL00846
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
123161944-123179639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123165012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 109
(K109N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029759]
[ENSMUST00000090371]
[ENSMUST00000174006]
[ENSMUST00000174323]
|
| AlphaFold |
Q3UIK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029759
AA Change: K326N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: K326N
| 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 |
probably damaging
Transcript: ENSMUST00000174006
AA Change: K109N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: K109N
| 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: K326N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: K326N
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
| Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
| Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
| Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,396,171 (GRCm39) |
T355K |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
| Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
| Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Naprt |
T |
A |
15: 75,763,637 (GRCm39) |
Y395F |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
| Plpp5 |
A |
T |
8: 26,210,585 (GRCm39) |
I59F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,579 (GRCm39) |
N200I |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
| Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
| Wt1 |
G |
T |
2: 104,997,302 (GRCm39) |
R413L |
probably damaging |
Het |
| Zfp345 |
C |
T |
2: 150,314,538 (GRCm39) |
G333D |
possibly damaging |
Het |
| Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
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 |
|
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