Incidental Mutation 'IGL00589:Mettl13'
| ID |
332722 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl13
|
| Ensembl Gene |
ENSMUSG00000026694 |
| Gene Name |
methyltransferase 13, eEF1A lysine and N-terminal methyltransferase |
| Synonyms |
Eef1aknmt, 5630401D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL00589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
162359694-162376098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162369960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 392
(S392R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028017]
[ENSMUST00000159316]
[ENSMUST00000159817]
[ENSMUST00000176220]
|
| AlphaFold |
Q91YR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028017
AA Change: S392R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: S392R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPMT
|
13 |
172 |
1e-7 |
PFAM |
|
Pfam:Ubie_methyltran
|
38 |
190 |
6.6e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
46 |
198 |
5.3e-13 |
PFAM |
|
Pfam:Methyltransf_18
|
48 |
161 |
1.1e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
52 |
154 |
3.7e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
53 |
158 |
4.1e-16 |
PFAM |
|
low complexity region
|
436 |
452 |
N/A |
INTRINSIC |
|
Pfam:Spermine_synth
|
472 |
630 |
7.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159255
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159316
AA Change: V188E
|
| SMART Domains |
Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: V188E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_25
|
1 |
101 |
2.7e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
1 |
102 |
8e-11 |
PFAM |
|
Pfam:Methyltransf_31
|
1 |
149 |
1.9e-12 |
PFAM |
|
Pfam:Methyltransf_11
|
2 |
100 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159817
AA Change: V233E
|
| SMART Domains |
Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: V233E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPMT
|
13 |
144 |
4.6e-8 |
PFAM |
|
Pfam:Methyltransf_31
|
46 |
195 |
3.5e-12 |
PFAM |
|
Pfam:Methyltransf_18
|
48 |
160 |
5e-11 |
PFAM |
|
Pfam:Methyltransf_25
|
52 |
154 |
1.1e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
53 |
158 |
6e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176220
AA Change: S80R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694
AA Change: S80R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spermine_synth
|
73 |
239 |
1.8e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
126 |
234 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195027
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
A |
T |
X: 154,078,236 (GRCm39) |
I261L |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,216 (GRCm39) |
F525I |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,096 (GRCm39) |
Y674* |
probably null |
Het |
| Baz1b |
A |
G |
5: 135,225,346 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ccz1 |
T |
C |
5: 143,949,713 (GRCm39) |
T72A |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,742,474 (GRCm39) |
R1629H |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,270,761 (GRCm39) |
D257E |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,016 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,566,332 (GRCm39) |
D94N |
probably damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,231,923 (GRCm39) |
T151S |
probably benign |
Het |
| Nphp1 |
A |
G |
2: 127,605,769 (GRCm39) |
I352T |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,244,869 (GRCm39) |
C97S |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,813,687 (GRCm39) |
D266G |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,067 (GRCm39) |
Y233H |
probably benign |
Het |
| Rwdd4a |
A |
T |
8: 47,997,219 (GRCm39) |
E146V |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,485,816 (GRCm39) |
I90V |
probably benign |
Het |
| Slc38a3 |
G |
A |
9: 107,535,876 (GRCm39) |
L86F |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,554,362 (GRCm39) |
V1576M |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,275,635 (GRCm39) |
L806Q |
probably damaging |
Het |
|
| Other mutations in Mettl13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Mettl13
|
APN |
1 |
162,363,434 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01765:Mettl13
|
APN |
1 |
162,366,522 (GRCm39) |
missense |
probably benign |
|
|
IGL02200:Mettl13
|
APN |
1 |
162,366,392 (GRCm39) |
intron |
probably benign |
|
|
IGL02835:Mettl13
|
UTSW |
1 |
162,373,585 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0055:Mettl13
|
UTSW |
1 |
162,373,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Mettl13
|
UTSW |
1 |
162,371,745 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Mettl13
|
UTSW |
1 |
162,366,458 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0423:Mettl13
|
UTSW |
1 |
162,371,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Mettl13
|
UTSW |
1 |
162,361,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Mettl13
|
UTSW |
1 |
162,364,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2429:Mettl13
|
UTSW |
1 |
162,373,894 (GRCm39) |
nonsense |
probably null |
|
|
R3755:Mettl13
|
UTSW |
1 |
162,371,789 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3756:Mettl13
|
UTSW |
1 |
162,371,789 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4058:Mettl13
|
UTSW |
1 |
162,373,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Mettl13
|
UTSW |
1 |
162,373,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Mettl13
|
UTSW |
1 |
162,375,771 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4885:Mettl13
|
UTSW |
1 |
162,364,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4974:Mettl13
|
UTSW |
1 |
162,364,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5070:Mettl13
|
UTSW |
1 |
162,373,468 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5447:Mettl13
|
UTSW |
1 |
162,363,449 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5702:Mettl13
|
UTSW |
1 |
162,373,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6137:Mettl13
|
UTSW |
1 |
162,363,455 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6570:Mettl13
|
UTSW |
1 |
162,371,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6754:Mettl13
|
UTSW |
1 |
162,375,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Mettl13
|
UTSW |
1 |
162,366,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7386:Mettl13
|
UTSW |
1 |
162,375,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Mettl13
|
UTSW |
1 |
162,371,887 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8557:Mettl13
|
UTSW |
1 |
162,371,921 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8901:Mettl13
|
UTSW |
1 |
162,373,814 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8905:Mettl13
|
UTSW |
1 |
162,364,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Mettl13
|
UTSW |
1 |
162,364,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation