Incidental Mutation 'R1318:Mettl2'
| ID |
157609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl2
|
| Ensembl Gene |
ENSMUSG00000020691 |
| Gene Name |
methyltransferase 2, methylcytidine |
| Synonyms |
PSENIP1, C130031G21Rik, 2810438F06Rik, D11Ertd768e |
| MMRRC Submission |
039384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R1318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
105017251-105031220 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 105028597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 316
(Y316*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021030]
|
| AlphaFold |
Q8BMK1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021030
AA Change: Y316*
|
| SMART Domains |
Protein: ENSMUSP00000021030
Gene: ENSMUSG00000020691
AA Change: Y316*
| 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: ENSMUST00000129012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157634
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,751,621 (GRCm39) |
V334L |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,605,531 (GRCm39) |
S1925A |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Comt |
G |
T |
16: 18,226,641 (GRCm39) |
D248E |
probably damaging |
Het |
| Ctnna2 |
A |
C |
6: 76,859,773 (GRCm39) |
N874K |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,669 (GRCm39) |
P237L |
possibly damaging |
Het |
| Galnt4 |
T |
G |
10: 98,945,772 (GRCm39) |
V499G |
probably damaging |
Het |
| Gh |
T |
C |
11: 106,191,923 (GRCm39) |
T96A |
probably benign |
Het |
| Gng8 |
T |
C |
7: 16,629,161 (GRCm39) |
V29A |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,040,972 (GRCm39) |
L1001P |
probably damaging |
Het |
| Jph1 |
A |
C |
1: 17,067,714 (GRCm39) |
F658V |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,750 (GRCm39) |
M180L |
possibly damaging |
Het |
| Ldb2 |
C |
T |
5: 44,692,379 (GRCm39) |
|
probably null |
Het |
| Mug2 |
G |
A |
6: 122,054,361 (GRCm39) |
V1047M |
probably damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,956 (GRCm39) |
C140F |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,559,401 (GRCm39) |
I101T |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,039,442 (GRCm39) |
N210S |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,328 (GRCm39) |
|
probably benign |
Het |
| Plaat3 |
T |
A |
19: 7,556,591 (GRCm39) |
|
probably null |
Het |
| Rims2 |
G |
A |
15: 39,381,222 (GRCm39) |
R1051H |
probably damaging |
Het |
| Rnf4 |
C |
A |
5: 34,508,590 (GRCm39) |
R151S |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,777 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,706,164 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
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 |
|
IGL01565:Mettl2
|
APN |
11 |
105,017,364 (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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-02-18 |
Incidental Mutation