Incidental Mutation 'R3706:Mettl2'
| ID |
271781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl2
|
| Ensembl Gene |
ENSMUSG00000020691 |
| Gene Name |
methyltransferase 2, methylcytidine |
| Synonyms |
PSENIP1, C130031G21Rik, 2810438F06Rik, D11Ertd768e |
| MMRRC Submission |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R3706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
105017251-105031220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105030552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 376
(I376N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021030]
|
| AlphaFold |
Q8BMK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021030
AA Change: I376N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021030
Gene: ENSMUSG00000020691
AA Change: I376N
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
probably damaging |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- ACACCAGGTGAGCTGGATAC -3'
(R):5'- TCCAGAAAATACGCATTAATGGGC -3'
Sequencing Primer
(F):5'- AGCTGGATACGCTCTTCACCG -3'
(R):5'- GGCTGTCATCAAACTCAGAGATCTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation