Incidental Mutation 'IGL00508:Mettl3'
ID |
28914 |
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 # |
IGL00508
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52532298-52542585 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 52532436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022767]
[ENSMUST00000122962]
[ENSMUST00000147768]
[ENSMUST00000173138]
[ENSMUST00000174351]
[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: 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 |
noncoding transcript
Transcript: ENSMUST00000173546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156611
|
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: 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 |
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: 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: 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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
Gpr45 |
C |
T |
1: 43,071,452 (GRCm39) |
P32S |
possibly damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,031,062 (GRCm39) |
N74I |
probably damaging |
Het |
Ifi47 |
C |
T |
11: 48,986,241 (GRCm39) |
Q3* |
probably null |
Het |
Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
Micall1 |
A |
G |
15: 79,014,768 (GRCm39) |
K715E |
probably damaging |
Het |
Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
Syt9 |
C |
T |
7: 107,024,574 (GRCm39) |
R156* |
probably null |
Het |
Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably 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 |
|
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 |
2013-04-17 |