Incidental Mutation 'R2429:Mettl13'
| ID |
250327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl13
|
| Ensembl Gene |
ENSMUSG00000026694 |
| Gene Name |
methyltransferase 13, eEF1A lysine and N-terminal methyltransferase |
| Synonyms |
Eef1aknmt, 5630401D24Rik |
| MMRRC Submission |
040391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R2429 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162359694-162376098 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 162373894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 119
(L119*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028017]
[ENSMUST00000159316]
[ENSMUST00000159817]
[ENSMUST00000176220]
|
| AlphaFold |
Q91YR5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028017
AA Change: L119*
|
| SMART Domains |
Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: L119*
| 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 null
Transcript: ENSMUST00000159316
AA Change: L68*
|
| SMART Domains |
Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: L68*
| 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 null
Transcript: ENSMUST00000159817
AA Change: L119*
|
| SMART Domains |
Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: L119*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195027
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
| Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
| Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
| Gpd1 |
A |
G |
15: 99,618,488 (GRCm39) |
M181V |
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
| Npffr2 |
A |
T |
5: 89,731,006 (GRCm39) |
Y312F |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
| Prpsap1 |
G |
A |
11: 116,363,061 (GRCm39) |
T314M |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
| Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
| Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,526,781 (GRCm39) |
K43E |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,482 (GRCm39) |
L168* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGAACTTAGTCATGACG -3'
(R):5'- GCAACTCAGAGCTCAGTGAAC -3'
Sequencing Primer
(F):5'- CCTGAACTTAGTCATGACGAAGGC -3'
(R):5'- CTCAGTGAACAACTCTATGATGTGGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation