Incidental Mutation 'IGL02200:Mettl13'
| ID |
284169 |
| 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 # |
IGL02200
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
162359694-162376098 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 162366392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028017]
[ENSMUST00000159316]
[ENSMUST00000159817]
[ENSMUST00000176220]
|
| AlphaFold |
Q91YR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028017
|
| SMART Domains |
Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
| 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 |
probably benign
Transcript: ENSMUST00000159316
|
| SMART Domains |
Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
| 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 |
probably benign
Transcript: ENSMUST00000159817
|
| SMART Domains |
Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694
| 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
|
| 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 |
|---|
| Abca4 |
A |
G |
3: 121,862,663 (GRCm39) |
E207G |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,857,213 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,536,302 (GRCm39) |
V97E |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,385,527 (GRCm39) |
Y736C |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,394,405 (GRCm39) |
W884R |
probably benign |
Het |
| Cflar |
A |
G |
1: 58,791,828 (GRCm39) |
D380G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,457,690 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,547,190 (GRCm39) |
S316P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,820,557 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,023,735 (GRCm39) |
P701L |
unknown |
Het |
| Dip2b |
T |
C |
15: 100,049,083 (GRCm39) |
L159P |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,346,000 (GRCm39) |
T181A |
probably benign |
Het |
| Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
| Gm2663 |
A |
G |
6: 40,972,947 (GRCm39) |
V220A |
probably benign |
Het |
| Gpi-ps |
A |
G |
8: 5,689,968 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
A |
G |
16: 87,737,453 (GRCm39) |
F614L |
probably damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,605 (GRCm39) |
I395N |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,686,632 (GRCm39) |
D528G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,110,762 (GRCm39) |
|
probably benign |
Het |
| M6pr |
A |
G |
6: 122,292,027 (GRCm39) |
M120V |
probably benign |
Het |
| Mtfmt |
A |
G |
9: 65,356,063 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Ogfrl1 |
C |
T |
1: 23,409,150 (GRCm39) |
V359I |
probably benign |
Het |
| Or51f1d |
C |
T |
7: 102,701,000 (GRCm39) |
T165I |
probably benign |
Het |
| Ovch2 |
T |
C |
7: 107,394,030 (GRCm39) |
Y141C |
probably damaging |
Het |
| Pwwp2a |
A |
C |
11: 43,596,955 (GRCm39) |
I432L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,679,855 (GRCm39) |
V1245M |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,850,937 (GRCm39) |
H587R |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,254,014 (GRCm39) |
K6E |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,136,884 (GRCm39) |
D115V |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,097,977 (GRCm39) |
T143K |
probably damaging |
Het |
| Spag4 |
T |
C |
2: 155,908,517 (GRCm39) |
L55S |
probably benign |
Het |
| Trgc2 |
T |
C |
13: 19,491,521 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,451,187 (GRCm39) |
S358P |
probably benign |
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 |
|
IGL00589:Mettl13
|
APN |
1 |
162,369,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01765:Mettl13
|
APN |
1 |
162,366,522 (GRCm39) |
missense |
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 |
2015-04-16 |
Incidental Mutation