Incidental Mutation 'IGL00401:Mettl3'
| ID |
4193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl3
|
| Ensembl Gene |
ENSMUSG00000022160 |
| Gene Name |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
| Synonyms |
M6A, 2310024F18Rik, Spo8 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52532298-52542585 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 52534424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022767]
[ENSMUST00000122962]
[ENSMUST00000145875]
[ENSMUST00000147768]
[ENSMUST00000174351]
[ENSMUST00000153539]
[ENSMUST00000173138]
[ENSMUST00000174853]
[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
|
| SMART Domains |
Protein: ENSMUSP00000022767
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160
| 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: ENSMUST00000156611
|
| Predicted Effect |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152493
|
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,202,743 (GRCm39) |
D1164V |
probably damaging |
Het |
| Baiap3 |
T |
G |
17: 25,463,302 (GRCm39) |
L964F |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,392,072 (GRCm39) |
V471E |
probably damaging |
Het |
| Carmil3 |
C |
T |
14: 55,735,755 (GRCm39) |
T569M |
probably damaging |
Het |
| Dapk2 |
G |
T |
9: 66,176,060 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,138,682 (GRCm39) |
Y291* |
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,541,357 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
T |
G |
2: 53,004,929 (GRCm39) |
D674E |
probably damaging |
Het |
| Foxq1 |
A |
T |
13: 31,743,260 (GRCm39) |
I121F |
probably damaging |
Het |
| Galnt13 |
C |
T |
2: 54,406,547 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,389,782 (GRCm39) |
|
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,323,609 (GRCm39) |
F146Y |
possibly damaging |
Het |
| Gm7353 |
A |
G |
7: 3,160,630 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,071,633 (GRCm39) |
|
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,050 (GRCm39) |
D56G |
possibly damaging |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,543 (GRCm39) |
C39S |
unknown |
Het |
| Lgsn |
A |
G |
1: 31,242,647 (GRCm39) |
K243R |
possibly damaging |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,190,874 (GRCm39) |
M934L |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,969,863 (GRCm39) |
|
probably null |
Het |
| Pias2 |
T |
A |
18: 77,220,907 (GRCm39) |
C381S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,937,712 (GRCm39) |
D887E |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,194,745 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
C |
3: 133,172,643 (GRCm39) |
E1873G |
possibly damaging |
Het |
| Txlng |
T |
A |
X: 161,565,305 (GRCm39) |
K341* |
probably null |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,340 (GRCm39) |
T369S |
possibly damaging |
Het |
| Usp46 |
C |
A |
5: 74,163,832 (GRCm39) |
V302F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,808,683 (GRCm39) |
C1454R |
probably benign |
Het |
|
| Other mutations in Mettl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation