Incidental Mutation 'R5702:Mettl13'
ID |
451730 |
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 |
043182-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R5702 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
162359694-162376098 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 162373549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 234
(V234A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028017]
[ENSMUST00000159316]
[ENSMUST00000159817]
[ENSMUST00000176220]
|
AlphaFold |
Q91YR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028017
AA Change: V234A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000028017 Gene: ENSMUSG00000026694 AA Change: V234A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195027
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,787,752 (GRCm39) |
S1018N |
probably benign |
Het |
Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,979,204 (GRCm39) |
V163L |
probably damaging |
Het |
Atf6b |
T |
C |
17: 34,869,978 (GRCm39) |
I288T |
possibly damaging |
Het |
Blm |
A |
T |
7: 80,108,675 (GRCm39) |
V1323E |
probably benign |
Het |
Brap |
T |
A |
5: 121,803,206 (GRCm39) |
L118Q |
probably damaging |
Het |
C1qbp |
G |
A |
11: 70,869,570 (GRCm39) |
T171I |
probably benign |
Het |
Ccdc136 |
C |
A |
6: 29,412,981 (GRCm39) |
H455Q |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,252,261 (GRCm39) |
V47D |
possibly damaging |
Het |
Cnot10 |
A |
C |
9: 114,458,078 (GRCm39) |
F143V |
probably damaging |
Het |
Cnot8 |
T |
C |
11: 58,004,873 (GRCm39) |
S191P |
possibly damaging |
Het |
Coro2b |
G |
A |
9: 62,333,859 (GRCm39) |
T345I |
probably damaging |
Het |
Dennd1b |
T |
C |
1: 139,061,413 (GRCm39) |
I365T |
probably damaging |
Het |
Dnah11 |
C |
A |
12: 118,077,642 (GRCm39) |
A1284S |
probably benign |
Het |
Dock4 |
G |
A |
12: 40,787,490 (GRCm39) |
D802N |
probably benign |
Het |
Dsg1a |
T |
C |
18: 20,469,922 (GRCm39) |
|
probably null |
Het |
Elp3 |
C |
T |
14: 65,815,431 (GRCm39) |
R187Q |
probably damaging |
Het |
Ercc3 |
G |
A |
18: 32,387,206 (GRCm39) |
R473Q |
probably damaging |
Het |
F5 |
G |
A |
1: 164,022,116 (GRCm39) |
W1530* |
probably null |
Het |
Fmnl1 |
T |
C |
11: 103,076,491 (GRCm39) |
I219T |
probably damaging |
Het |
Gemin4 |
G |
A |
11: 76,101,663 (GRCm39) |
R1033C |
probably benign |
Het |
Gm2381 |
T |
A |
7: 42,471,820 (GRCm39) |
I20F |
probably benign |
Het |
Hmgcll1 |
A |
G |
9: 75,991,672 (GRCm39) |
M129V |
possibly damaging |
Het |
Ltbp3 |
G |
T |
19: 5,797,849 (GRCm39) |
R496L |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,473,208 (GRCm39) |
A901V |
probably benign |
Het |
Or1j4 |
A |
G |
2: 36,740,946 (GRCm39) |
D296G |
probably damaging |
Het |
Pde7a |
A |
T |
3: 19,295,371 (GRCm39) |
C146* |
probably null |
Het |
Pla2g4e |
T |
A |
2: 120,018,992 (GRCm39) |
N202Y |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,401 (GRCm39) |
|
probably null |
Het |
Plscr1l1 |
G |
A |
9: 92,225,741 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,582 (GRCm39) |
T15A |
probably benign |
Het |
Rrn3 |
T |
A |
16: 13,631,130 (GRCm39) |
Y655* |
probably null |
Het |
Scarb2 |
C |
T |
5: 92,599,255 (GRCm39) |
G355D |
probably damaging |
Het |
Scd2 |
G |
A |
19: 44,286,502 (GRCm39) |
A111T |
possibly damaging |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,838,021 (GRCm39) |
T57A |
possibly damaging |
Het |
Spire2 |
C |
T |
8: 124,073,402 (GRCm39) |
P94S |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,435,221 (GRCm39) |
H237R |
possibly damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,774,407 (GRCm39) |
D316G |
probably benign |
Het |
Zfp830 |
T |
A |
11: 82,655,800 (GRCm39) |
F201L |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,133 (GRCm39) |
F313S |
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 |
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 |
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'- CAAAATGATTGTCCCGCGATG -3'
(R):5'- GAAGAAAGCAGTGGGCCACTTC -3'
Sequencing Primer
(F):5'- AAAATGATTGTCCCGCGATGGTTTC -3'
(R):5'- AGTGGGCCACTTCTCTCG -3'
|
Posted On |
2017-01-03 |