Incidental Mutation 'R6282:Mettl3'
ID |
508017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mettl3
|
Ensembl Gene |
ENSMUSG00000022160 |
Gene Name |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
Synonyms |
M6A, 2310024F18Rik, Spo8 |
MMRRC Submission |
044452-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6282 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52532298-52542585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 52535428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 287
(D287E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022767]
[ENSMUST00000122962]
[ENSMUST00000145875]
[ENSMUST00000147768]
[ENSMUST00000174351]
[ENSMUST00000174853]
[ENSMUST00000173138]
[ENSMUST00000173896]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022766
|
SMART Domains |
Protein: ENSMUSP00000022766 Gene: ENSMUSG00000016831
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
HMG
|
222 |
292 |
1.17e-18 |
SMART |
low complexity region
|
307 |
339 |
N/A |
INTRINSIC |
low complexity region
|
435 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022767
AA Change: D338E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022767 Gene: ENSMUSG00000022160 AA Change: D338E
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
191 |
213 |
N/A |
INTRINSIC |
Pfam:MT-A70
|
389 |
550 |
9.9e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122962
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130550
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145875
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147768
|
SMART Domains |
Protein: ENSMUSP00000134577 Gene: ENSMUSG00000022160
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
191 |
213 |
N/A |
INTRINSIC |
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174351
AA Change: D287E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000134732 Gene: ENSMUSG00000022160 AA Change: D287E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
low complexity region
|
140 |
162 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174853
|
SMART Domains |
Protein: ENSMUSP00000133864 Gene: ENSMUSG00000022160
Domain | Start | End | E-Value | Type |
low complexity region
|
120 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173138
|
SMART Domains |
Protein: ENSMUSP00000134018 Gene: ENSMUSG00000022160
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173656
|
SMART Domains |
Protein: ENSMUSP00000133759 Gene: ENSMUSG00000022160
Domain | Start | End | E-Value | Type |
Pfam:MT-A70
|
1 |
60 |
8.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174360
|
SMART Domains |
Protein: ENSMUSP00000134578 Gene: ENSMUSG00000022160
Domain | Start | End | E-Value | Type |
Pfam:MT-A70
|
1 |
34 |
4.3e-10 |
PFAM |
Pfam:MT-A70
|
30 |
74 |
1.4e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173896
|
SMART Domains |
Protein: ENSMUSP00000133506 Gene: ENSMUSG00000022160
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156611
|
Meta Mutation Damage Score |
0.0632 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
98% (45/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E8.5 with a deficiency in adopting the epiblast egg cylinder. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
Il10ra |
C |
A |
9: 45,171,703 (GRCm39) |
C255F |
probably damaging |
Het |
Insyn2b |
A |
G |
11: 34,352,819 (GRCm39) |
D287G |
possibly damaging |
Het |
Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
Mier2 |
A |
G |
10: 79,380,576 (GRCm39) |
F278S |
probably damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
Ntsr2 |
A |
G |
12: 16,708,426 (GRCm39) |
Y320C |
probably damaging |
Het |
Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
Pik3cd |
G |
T |
4: 149,744,200 (GRCm39) |
R184S |
probably benign |
Het |
Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
probably damaging |
Het |
Zfp985 |
T |
A |
4: 147,667,805 (GRCm39) |
H224Q |
probably benign |
Het |
|
Other mutations in Mettl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Mettl3
|
APN |
14 |
52,534,424 (GRCm39) |
unclassified |
probably benign |
|
IGL00508:Mettl3
|
APN |
14 |
52,532,436 (GRCm39) |
unclassified |
probably benign |
|
R0417:Mettl3
|
UTSW |
14 |
52,534,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R1533:Mettl3
|
UTSW |
14 |
52,534,385 (GRCm39) |
missense |
probably benign |
0.01 |
R2113:Mettl3
|
UTSW |
14 |
52,532,441 (GRCm39) |
makesense |
probably null |
|
R3785:Mettl3
|
UTSW |
14 |
52,537,363 (GRCm39) |
missense |
probably benign |
0.15 |
R3786:Mettl3
|
UTSW |
14 |
52,537,363 (GRCm39) |
missense |
probably benign |
0.15 |
R4651:Mettl3
|
UTSW |
14 |
52,532,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Mettl3
|
UTSW |
14 |
52,532,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Mettl3
|
UTSW |
14 |
52,537,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R5462:Mettl3
|
UTSW |
14 |
52,537,336 (GRCm39) |
missense |
probably damaging |
0.96 |
R6046:Mettl3
|
UTSW |
14 |
52,536,243 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6151:Mettl3
|
UTSW |
14 |
52,532,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Mettl3
|
UTSW |
14 |
52,536,214 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6225:Mettl3
|
UTSW |
14 |
52,534,215 (GRCm39) |
splice site |
probably null |
|
R8038:Mettl3
|
UTSW |
14 |
52,537,421 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8110:Mettl3
|
UTSW |
14 |
52,537,709 (GRCm39) |
missense |
probably benign |
0.02 |
R9332:Mettl3
|
UTSW |
14 |
52,534,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R9757:Mettl3
|
UTSW |
14 |
52,537,361 (GRCm39) |
missense |
probably benign |
0.00 |
RF001:Mettl3
|
UTSW |
14 |
52,537,756 (GRCm39) |
missense |
probably benign |
|
X0025:Mettl3
|
UTSW |
14 |
52,535,545 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCCCATCAGTAAGCCAG -3'
(R):5'- TCAAGTCTTTAGTCAGGAGAACG -3'
Sequencing Primer
(F):5'- TCCCATCAGTAAGCCAGATTGC -3'
(R):5'- CGAAAGTCCTTTAGTTTAACAATGC -3'
|
Posted On |
2018-03-15 |