Incidental Mutation 'R4087:Mettl13'
| ID |
317402 |
| 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 |
040980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R4087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162359694-162376098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 162375771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 19
(K19E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028017]
[ENSMUST00000159316]
[ENSMUST00000159817]
[ENSMUST00000176220]
|
| AlphaFold |
Q91YR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028017
AA Change: K19E
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: K19E
| 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 |
possibly damaging
Transcript: ENSMUST00000159817
AA Change: K19E
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: K19E
| 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 |
0.0852 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Col6a6 |
A |
T |
9: 105,661,155 (GRCm39) |
I318N |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,363,172 (GRCm39) |
Y559N |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,248 (GRCm39) |
V59A |
possibly damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,333 (GRCm39) |
R697Q |
probably damaging |
Het |
| Fermt3 |
T |
A |
19: 6,980,945 (GRCm39) |
|
probably null |
Het |
| Git2 |
A |
G |
5: 114,902,466 (GRCm39) |
Y189H |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm7713 |
C |
T |
15: 59,866,258 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,691 (GRCm39) |
Q925* |
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,110,428 (GRCm39) |
I213T |
possibly damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,495,728 (GRCm39) |
I306F |
possibly damaging |
Het |
| Mapk8 |
T |
C |
14: 33,112,205 (GRCm39) |
T228A |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,205,342 (GRCm39) |
V2101A |
probably benign |
Het |
| Mta1 |
A |
G |
12: 113,075,802 (GRCm39) |
Y22C |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,087 (GRCm39) |
T273A |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,803,409 (GRCm39) |
W1443R |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,697 (GRCm39) |
D32V |
probably damaging |
Het |
| Or8k36-ps1 |
C |
A |
2: 86,437,297 (GRCm39) |
*206L |
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Rnf144a |
C |
T |
12: 26,377,591 (GRCm39) |
V51I |
probably damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,552,256 (GRCm39) |
T682S |
probably damaging |
Het |
| Sertad2 |
GCCCC |
GCCCCC |
11: 20,598,664 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,979,920 (GRCm39) |
Q256* |
probably null |
Het |
| Tmprss11d |
A |
T |
5: 86,457,138 (GRCm39) |
S174T |
probably damaging |
Het |
| Tor1b |
T |
A |
2: 30,846,531 (GRCm39) |
I238N |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,957 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,350,651 (GRCm39) |
N46S |
possibly damaging |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,357,380 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
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 |
|
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 |
|
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 |
|
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'- CCAAGATGCTGGGCAGAATC -3'
(R):5'- TTTGCGTGCAGAACAAATCTATGG -3'
Sequencing Primer
(F):5'- ATAGATCTGAGTGGGGTCCCC -3'
(R):5'- TGCAGAACAAATCTATGGTGCCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation