Incidental Mutation 'IGL01614:Mettl14'
ID |
92336 |
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 # |
IGL01614
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
123161944-123179639 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 123167609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029759]
[ENSMUST00000090371]
[ENSMUST00000174006]
[ENSMUST00000174323]
|
AlphaFold |
Q3UIK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029759
|
SMART Domains |
Protein: ENSMUSP00000029759 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 |
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 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 |
probably benign
Transcript: ENSMUST00000174323
|
SMART Domains |
Protein: ENSMUSP00000134198 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 |
360 |
7.3e-63 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
A |
17: 43,735,362 (GRCm39) |
S143T |
possibly damaging |
Het |
Arhgap32 |
G |
T |
9: 32,171,801 (GRCm39) |
S1527I |
probably damaging |
Het |
Atp8a2 |
A |
G |
14: 60,282,437 (GRCm39) |
V128A |
probably damaging |
Het |
Bpi |
T |
C |
2: 158,113,866 (GRCm39) |
F255L |
probably damaging |
Het |
Clptm1 |
A |
T |
7: 19,371,625 (GRCm39) |
D269E |
probably benign |
Het |
Cyria |
T |
C |
12: 12,411,574 (GRCm39) |
|
probably null |
Het |
E2f7 |
T |
C |
10: 110,595,839 (GRCm39) |
V63A |
probably damaging |
Het |
Eif4e1b |
T |
A |
13: 54,934,729 (GRCm39) |
I184N |
probably damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,996 (GRCm39) |
L401Q |
probably damaging |
Het |
Gm7808 |
G |
A |
9: 19,839,442 (GRCm39) |
|
probably benign |
Het |
Hdac5 |
G |
A |
11: 102,090,854 (GRCm39) |
T741I |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,172,507 (GRCm39) |
T522A |
probably benign |
Het |
Lama5 |
A |
C |
2: 179,822,657 (GRCm39) |
F2832V |
probably damaging |
Het |
Ltk |
A |
C |
2: 119,583,968 (GRCm39) |
L230R |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,433,173 (GRCm39) |
F1507L |
possibly damaging |
Het |
Nsd3 |
T |
A |
8: 26,156,095 (GRCm39) |
I554K |
possibly damaging |
Het |
Or1j12 |
T |
G |
2: 36,342,636 (GRCm39) |
I13S |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,529 (GRCm39) |
C30Y |
probably benign |
Het |
Or51a43 |
C |
T |
7: 103,717,576 (GRCm39) |
V221I |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,741 (GRCm39) |
I140N |
possibly damaging |
Het |
Prr14 |
T |
A |
7: 127,074,305 (GRCm39) |
L279H |
probably damaging |
Het |
Rbm25 |
G |
T |
12: 83,706,341 (GRCm39) |
D229Y |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,684,684 (GRCm39) |
K1926E |
probably damaging |
Het |
Slc25a23 |
C |
T |
17: 57,352,579 (GRCm39) |
R435Q |
probably null |
Het |
Srebf2 |
A |
G |
15: 82,063,054 (GRCm39) |
N457S |
probably benign |
Het |
Stac2 |
T |
C |
11: 97,943,774 (GRCm39) |
D12G |
probably benign |
Het |
Tal1 |
A |
C |
4: 114,920,325 (GRCm39) |
|
probably null |
Het |
Usp25 |
G |
A |
16: 76,874,005 (GRCm39) |
R527Q |
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 |
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 |
2013-12-09 |