Incidental Mutation 'R6570:Mettl13'
| ID |
526206 |
| 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 |
044694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R6570 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162359694-162376098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162371855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 26
(L26P)
|
| 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
AA Change: L338P
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: L338P
| 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: S134P
|
| SMART Domains |
Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: S134P
| 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
AA Change: S179P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: S179P
| 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 damaging
Transcript: ENSMUST00000176220
AA Change: L26P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694
AA Change: L26P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
T |
C |
8: 123,584,130 (GRCm39) |
V77A |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,820 (GRCm39) |
V3077I |
unknown |
Het |
| Erbb2 |
T |
C |
11: 98,313,873 (GRCm39) |
L272P |
possibly damaging |
Het |
| Exd1 |
T |
C |
2: 119,350,654 (GRCm39) |
T536A |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,675,731 (GRCm39) |
R401L |
possibly damaging |
Het |
| Mad2l1bp |
A |
T |
17: 46,463,933 (GRCm39) |
H30Q |
probably benign |
Het |
| Mmp16 |
G |
A |
4: 18,011,501 (GRCm39) |
V110I |
possibly damaging |
Het |
| Or2m13 |
T |
C |
16: 19,226,068 (GRCm39) |
S233G |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,824,906 (GRCm39) |
A863V |
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,108,028 (GRCm39) |
S219N |
probably benign |
Het |
| Serpine3 |
T |
A |
14: 62,911,770 (GRCm39) |
L244Q |
probably damaging |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,883 (GRCm39) |
V205A |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,895,927 (GRCm39) |
V481A |
possibly 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 |
|
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 |
|
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'- GTGTCTCTGTCATAACGCTTTG -3'
(R):5'- TTGTAGACATCGACTGTGGGC -3'
Sequencing Primer
(F):5'- TGGTCCTACCCTCTAAAGGC -3'
(R):5'- GTGGGCCTTGAACATTTCACCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation