Incidental Mutation 'R2370:Mettl4'
ID |
247513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mettl4
|
Ensembl Gene |
ENSMUSG00000055660 |
Gene Name |
methyltransferase 4, N6-adenosine |
Synonyms |
2410198H06Rik, A730091E08Rik, HsT661 |
MMRRC Submission |
040350-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R2370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
95030018-95057447 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95040576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 404
(D404G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171284]
|
AlphaFold |
Q3U034 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171284
AA Change: D404G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127142 Gene: ENSMUSG00000055660 AA Change: D404G
Domain | Start | End | E-Value | Type |
Pfam:MT-A70
|
280 |
454 |
9.9e-43 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
probably damaging |
Het |
|
Other mutations in Mettl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03376:Mettl4
|
APN |
17 |
95,042,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Mettl4
|
UTSW |
17 |
95,055,285 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2172:Mettl4
|
UTSW |
17 |
95,040,591 (GRCm39) |
missense |
probably benign |
|
R3621:Mettl4
|
UTSW |
17 |
95,042,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R3913:Mettl4
|
UTSW |
17 |
95,047,960 (GRCm39) |
missense |
probably benign |
0.06 |
R4155:Mettl4
|
UTSW |
17 |
95,048,003 (GRCm39) |
missense |
probably benign |
|
R4536:Mettl4
|
UTSW |
17 |
95,042,933 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4946:Mettl4
|
UTSW |
17 |
95,047,960 (GRCm39) |
missense |
probably benign |
0.06 |
R5263:Mettl4
|
UTSW |
17 |
95,047,937 (GRCm39) |
nonsense |
probably null |
|
R5397:Mettl4
|
UTSW |
17 |
95,034,705 (GRCm39) |
nonsense |
probably null |
|
R6242:Mettl4
|
UTSW |
17 |
95,042,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R6508:Mettl4
|
UTSW |
17 |
95,051,373 (GRCm39) |
missense |
probably damaging |
0.98 |
R7069:Mettl4
|
UTSW |
17 |
95,041,061 (GRCm39) |
missense |
probably damaging |
0.98 |
R7941:Mettl4
|
UTSW |
17 |
95,040,622 (GRCm39) |
splice site |
probably null |
|
R8088:Mettl4
|
UTSW |
17 |
95,042,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R8373:Mettl4
|
UTSW |
17 |
95,041,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Mettl4
|
UTSW |
17 |
95,041,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R9055:Mettl4
|
UTSW |
17 |
95,047,843 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9130:Mettl4
|
UTSW |
17 |
95,042,913 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9335:Mettl4
|
UTSW |
17 |
95,042,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9697:Mettl4
|
UTSW |
17 |
95,034,806 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Mettl4
|
UTSW |
17 |
95,040,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGATATAAACTAACCTGTGCTC -3'
(R):5'- ATCTGAAAGTGACCTAGAGCTG -3'
Sequencing Primer
(F):5'- AAACTAACCTGTGCTCTATTTCAC -3'
(R):5'- GACCTAGAGCTGAAAAGTATGTTAC -3'
|
Posted On |
2014-11-11 |