Incidental Mutation 'IGL01565:Mettl2'
| ID |
90970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl2
|
| Ensembl Gene |
ENSMUSG00000020691 |
| Gene Name |
methyltransferase 2, methylcytidine |
| Synonyms |
PSENIP1, C130031G21Rik, 2810438F06Rik, D11Ertd768e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
105017251-105031220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105017364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 14
(D14E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021030]
|
| AlphaFold |
Q8BMK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021030
AA Change: D14E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021030
Gene: ENSMUSG00000020691
AA Change: D14E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
150 |
337 |
1.2e-18 |
PFAM |
|
Pfam:Ubie_methyltran
|
164 |
300 |
1.2e-8 |
PFAM |
|
Pfam:MTS
|
166 |
291 |
4.3e-6 |
PFAM |
|
Pfam:Methyltransf_31
|
171 |
331 |
1.6e-14 |
PFAM |
|
Pfam:Methyltransf_18
|
173 |
286 |
2e-7 |
PFAM |
|
Pfam:Methyltransf_25
|
177 |
279 |
7.6e-12 |
PFAM |
|
Pfam:Methyltransf_12
|
178 |
281 |
1.1e-18 |
PFAM |
|
Pfam:Methyltransf_11
|
178 |
283 |
5.7e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136214
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of tRNA. [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 |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Mettl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Mettl2
|
APN |
11 |
105,017,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0071:Mettl2
|
UTSW |
11 |
105,022,468 (GRCm39) |
splice site |
probably benign |
|
|
R0726:Mettl2
|
UTSW |
11 |
105,017,670 (GRCm39) |
missense |
probably benign |
|
|
R0990:Mettl2
|
UTSW |
11 |
105,028,570 (GRCm39) |
nonsense |
probably null |
|
|
R1318:Mettl2
|
UTSW |
11 |
105,028,597 (GRCm39) |
nonsense |
probably null |
|
|
R1699:Mettl2
|
UTSW |
11 |
105,030,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1885:Mettl2
|
UTSW |
11 |
105,022,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1907:Mettl2
|
UTSW |
11 |
105,017,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3706:Mettl2
|
UTSW |
11 |
105,030,552 (GRCm39) |
missense |
probably benign |
|
|
R4396:Mettl2
|
UTSW |
11 |
105,017,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Mettl2
|
UTSW |
11 |
105,017,436 (GRCm39) |
splice site |
probably null |
|
|
R4876:Mettl2
|
UTSW |
11 |
105,019,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4955:Mettl2
|
UTSW |
11 |
105,028,605 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6463:Mettl2
|
UTSW |
11 |
105,023,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7058:Mettl2
|
UTSW |
11 |
105,019,719 (GRCm39) |
missense |
probably benign |
|
|
R7387:Mettl2
|
UTSW |
11 |
105,023,364 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7934:Mettl2
|
UTSW |
11 |
105,019,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Mettl2
|
UTSW |
11 |
105,019,866 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8546:Mettl2
|
UTSW |
11 |
105,022,399 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8977:Mettl2
|
UTSW |
11 |
105,019,791 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9085:Mettl2
|
UTSW |
11 |
105,021,274 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0025:Mettl2
|
UTSW |
11 |
105,030,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation