Incidental Mutation 'R3785:Mettl3'
| ID |
272231 |
| 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 |
040752-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52532298-52542585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52537363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 102
(I102N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022767]
[ENSMUST00000122962]
[ENSMUST00000145875]
[ENSMUST00000147768]
[ENSMUST00000174853]
[ENSMUST00000174351]
[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: I173N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160
AA Change: I173N
| 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
AA Change: I173N
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160
AA Change: I173N
| 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: ENSMUST00000174853
AA Change: I102N
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133864
Gene: ENSMUSG00000022160
AA Change: I102N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174351
AA Change: I122N
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160
AA Change: I122N
| 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 |
noncoding transcript
Transcript: ENSMUST00000197394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173546
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
95% (38/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A2ml1 |
C |
T |
6: 128,521,887 (GRCm39) |
|
probably null |
Het |
| Aak1 |
T |
C |
6: 86,942,560 (GRCm39) |
F701S |
unknown |
Het |
| Arid2 |
T |
A |
15: 96,270,439 (GRCm39) |
D1517E |
possibly damaging |
Het |
| Cyp2r1 |
C |
T |
7: 114,153,931 (GRCm39) |
V88I |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 117,981,337 (GRCm39) |
Q2610K |
probably damaging |
Het |
| Gm5698 |
T |
C |
1: 31,016,560 (GRCm39) |
T164A |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,956 (GRCm39) |
T76A |
probably benign |
Het |
| Htra3 |
A |
T |
5: 35,828,472 (GRCm39) |
L136H |
probably benign |
Het |
| Ifitm10 |
G |
A |
7: 141,882,335 (GRCm39) |
T145I |
possibly damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Kcnd3 |
C |
A |
3: 105,575,541 (GRCm39) |
T555K |
possibly damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 12,930,099 (GRCm39) |
G40C |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,389 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Mypn |
C |
A |
10: 63,028,961 (GRCm39) |
R34L |
probably benign |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,831 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Or9g3 |
G |
A |
2: 85,589,797 (GRCm39) |
P308S |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf5 |
A |
G |
17: 34,820,906 (GRCm39) |
|
probably null |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,264,827 (GRCm39) |
T131S |
probably damaging |
Het |
| Slc9a4 |
C |
A |
1: 40,623,130 (GRCm39) |
P123Q |
probably damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,426,441 (GRCm39) |
|
probably null |
Het |
| Swt1 |
T |
C |
1: 151,255,155 (GRCm39) |
D814G |
probably benign |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Zfp26 |
A |
T |
9: 20,349,098 (GRCm39) |
C489S |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,820,153 (GRCm39) |
T934M |
possibly damaging |
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 |
|
|
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 |
|
|
R6282:Mettl3
|
UTSW |
14 |
52,535,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AAGGAATGTGAGCGTGTTCG -3'
(R):5'- GGGTAGAAAGCCTTCTCCAG -3'
Sequencing Primer
(F):5'- CGTTGACTGTTGGTTCAAAAGGC -3'
(R):5'- GAAATTTGCCGCCCAGGAGTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation