Incidental Mutation 'R9757:Mettl3'
| ID |
732810 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52532298-52542585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 52537361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 174
(A174S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022767]
[ENSMUST00000122962]
[ENSMUST00000145875]
[ENSMUST00000147768]
[ENSMUST00000173138]
[ENSMUST00000173896]
[ENSMUST00000174351]
[ENSMUST00000174853]
|
| 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: A174S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160
AA Change: A174S
| 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 |
probably benign
Transcript: ENSMUST00000145875
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147768
AA Change: A174S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160
AA Change: A174S
| 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: 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: 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 |
probably benign
Transcript: ENSMUST00000174351
AA Change: A123S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160
AA Change: A123S
| 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: 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 |
|
| SMART Domains |
Protein: ENSMUSP00000133864
Gene: ENSMUSG00000022160
AA Change: A103S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
142 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,613,086 (GRCm39) |
V105A |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,235 (GRCm39) |
V621L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,517,676 (GRCm39) |
S323P |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,885,182 (GRCm39) |
K456* |
probably null |
Het |
| C7 |
G |
T |
15: 5,075,134 (GRCm39) |
T186K |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,609,113 (GRCm39) |
E396G |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,762,170 (GRCm39) |
T20I |
|
Het |
| Ces1b |
G |
T |
8: 93,806,501 (GRCm39) |
P15Q |
probably benign |
Het |
| Dnah14 |
G |
T |
1: 181,513,349 (GRCm39) |
A1901S |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,901,035 (GRCm39) |
H310R |
possibly damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,269,398 (GRCm39) |
S23R |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,773,652 (GRCm39) |
C485R |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,758,990 (GRCm39) |
W171R |
|
Het |
| Ing2 |
G |
A |
8: 48,128,075 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
C |
1: 180,160,372 (GRCm39) |
I166T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,805 (GRCm39) |
I101F |
probably benign |
Het |
| Krtap6-2 |
C |
T |
16: 89,216,958 (GRCm39) |
C3Y |
unknown |
Het |
| Lep |
A |
G |
6: 29,069,083 (GRCm39) |
I45V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,695,229 (GRCm39) |
I2355L |
probably benign |
Het |
| Mmp23 |
T |
C |
4: 155,735,515 (GRCm39) |
N317S |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,257 (GRCm39) |
V777E |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,617 (GRCm39) |
C844S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,338 (GRCm39) |
E6823G |
probably benign |
Het |
| Or6y1 |
A |
T |
1: 174,276,866 (GRCm39) |
I226F |
probably damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,302 (GRCm39) |
Q751L |
probably benign |
Het |
| Pdgfrl |
T |
A |
8: 41,379,454 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Pdzph1 |
A |
C |
17: 59,281,898 (GRCm39) |
L128* |
probably null |
Het |
| Pramel24 |
A |
G |
4: 143,454,992 (GRCm39) |
D430G |
probably benign |
Het |
| Prr36 |
A |
T |
8: 4,260,998 (GRCm39) |
S940T |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,595,120 (GRCm39) |
I279N |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,807,719 (GRCm39) |
T259S |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,628,433 (GRCm39) |
I538N |
probably damaging |
Het |
| Sdf2l1 |
A |
T |
16: 16,948,398 (GRCm39) |
D213E |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,711,363 (GRCm39) |
Y643H |
probably damaging |
Het |
| Sval2 |
G |
T |
6: 41,838,774 (GRCm39) |
C4F |
possibly damaging |
Het |
| Taldo1 |
A |
G |
7: 140,980,263 (GRCm39) |
E131G |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,296 (GRCm39) |
I166M |
probably benign |
Het |
| Tmem178 |
A |
G |
17: 81,308,289 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,423 (GRCm39) |
L17188* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,810,558 (GRCm39) |
K273E |
probably damaging |
Het |
| Usp32 |
A |
C |
11: 84,968,155 (GRCm39) |
Y169* |
probably null |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,908 (GRCm39) |
Y247N |
possibly damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,079,310 (GRCm39) |
C882* |
probably null |
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 |
|
|
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 |
|
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'- GCCTTCTCCAGAAATTTGCC -3'
Sequencing Primer
(F):5'- CGTTGACTGTTGGTTCAAAAGGC -3'
(R):5'- AAATTTGCCGCCCAGGAGTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation