Incidental Mutation 'R3755:Mettl13'
ID |
271369 |
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 |
040738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R3755 (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 162371789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 360
(E360G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028017]
[ENSMUST00000159316]
[ENSMUST00000159817]
[ENSMUST00000176220]
|
AlphaFold |
Q91YR5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028017
AA Change: E360G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028017 Gene: ENSMUSG00000026694 AA Change: E360G
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: S156G
|
SMART Domains |
Protein: ENSMUSP00000135822 Gene: ENSMUSG00000026694 AA Change: S156G
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 |
unknown
Transcript: ENSMUST00000159817
AA Change: S201G
|
SMART Domains |
Protein: ENSMUSP00000124267 Gene: ENSMUSG00000026694 AA Change: S201G
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
AA Change: E48G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000135879 Gene: ENSMUSG00000026694 AA Change: E48G
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 |
0.1430 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
C |
A |
10: 29,098,110 (GRCm39) |
S169Y |
probably damaging |
Het |
Abcb1a |
G |
A |
5: 8,797,403 (GRCm39) |
V1225M |
possibly damaging |
Het |
Adamdec1 |
A |
T |
14: 68,814,587 (GRCm39) |
I130N |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
Bace2 |
C |
G |
16: 97,237,857 (GRCm39) |
T436R |
probably benign |
Het |
Capn13 |
G |
A |
17: 73,638,114 (GRCm39) |
Q430* |
probably null |
Het |
Ccdc30 |
A |
T |
4: 119,225,005 (GRCm39) |
|
probably null |
Het |
Ces5a |
T |
C |
8: 94,255,130 (GRCm39) |
T184A |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,411,594 (GRCm39) |
C493R |
possibly damaging |
Het |
Creb3l2 |
A |
T |
6: 37,340,961 (GRCm39) |
I146N |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
A |
2: 20,748,348 (GRCm39) |
V27I |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,808,561 (GRCm39) |
D1627N |
probably benign |
Het |
Gcdh |
A |
G |
8: 85,620,109 (GRCm39) |
|
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,369 (GRCm39) |
F219L |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,941,349 (GRCm39) |
L280S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,933,060 (GRCm39) |
V2073D |
probably damaging |
Het |
Kprp |
A |
G |
3: 92,732,346 (GRCm39) |
S235P |
unknown |
Het |
Lpp |
A |
G |
16: 24,663,911 (GRCm39) |
H396R |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,502,048 (GRCm39) |
N179S |
probably benign |
Het |
Nfib |
A |
T |
4: 82,241,936 (GRCm39) |
S418R |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,979,358 (GRCm39) |
F14L |
probably damaging |
Het |
Or8s2 |
A |
C |
15: 98,276,463 (GRCm39) |
I176S |
probably benign |
Het |
Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,359,171 (GRCm39) |
T844I |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,452,802 (GRCm39) |
E3909V |
probably damaging |
Het |
Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,816,143 (GRCm39) |
I219T |
probably damaging |
Het |
Rad18 |
T |
C |
6: 112,670,432 (GRCm39) |
N44S |
probably damaging |
Het |
Reep5 |
T |
C |
18: 34,505,527 (GRCm39) |
Y48C |
probably damaging |
Het |
Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
Slamf1 |
C |
T |
1: 171,604,728 (GRCm39) |
A166V |
probably damaging |
Het |
Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
Snap23 |
T |
A |
2: 120,416,726 (GRCm39) |
C79S |
probably damaging |
Het |
Spag6l |
A |
C |
16: 16,580,884 (GRCm39) |
|
probably null |
Het |
Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
Trav4-3 |
C |
A |
14: 53,836,596 (GRCm39) |
S20R |
probably benign |
Het |
Tssk2 |
G |
A |
16: 17,716,827 (GRCm39) |
E77K |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,195,482 (GRCm39) |
F1051S |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,367,498 (GRCm39) |
T414A |
probably benign |
Het |
Urod |
C |
T |
4: 116,850,601 (GRCm39) |
C66Y |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,271 (GRCm39) |
K62E |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,578,106 (GRCm39) |
S460P |
probably damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zbtb7a |
C |
T |
10: 80,980,100 (GRCm39) |
T98M |
probably damaging |
Het |
Zfp524 |
C |
A |
7: 5,020,884 (GRCm39) |
H137Q |
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 |
|
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'- ATGTGTCTCTGTCATAACGCT -3'
(R):5'- TAGACATCGACTGTGGGCCTT -3'
Sequencing Primer
(F):5'- GTCATAACGCTTTGCTCTCATCTG -3'
(R):5'- GTGGGCCTTGAACATTTCACCAG -3'
|
Posted On |
2015-03-18 |