Incidental Mutation 'R3621:Mettl4'
| ID |
268650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl4
|
| Ensembl Gene |
ENSMUSG00000055660 |
| Gene Name |
methyltransferase 4, N6-adenosine |
| Synonyms |
2410198H06Rik, A730091E08Rik, HsT661 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R3621 (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 95042936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 300
(Y300C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171284]
|
| AlphaFold |
Q3U034 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171284
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127142
Gene: ENSMUSG00000055660
AA Change: Y300C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MT-A70
|
280 |
454 |
9.9e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,140,735 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 60,263,587 (GRCm39) |
|
probably null |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,454,369 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Fam118a |
T |
C |
15: 84,930,002 (GRCm39) |
F77L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
A |
T |
9: 40,713,219 (GRCm39) |
M1L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,413,014 (GRCm39) |
V179M |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,209 (GRCm39) |
Y235H |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Tep1 |
G |
A |
14: 51,066,477 (GRCm39) |
R2328C |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Timd2 |
G |
A |
11: 46,569,040 (GRCm39) |
T206I |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
| Zpbp2 |
A |
G |
11: 98,443,382 (GRCm39) |
T18A |
probably benign |
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 |
|
|
R2370:Mettl4
|
UTSW |
17 |
95,040,576 (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'- CTTCCTGGAAGTGAAAAGTGATG -3'
(R):5'- TGGTACATGTGTAAGTGCCAG -3'
Sequencing Primer
(F):5'- TGCTGAGATAACAGACAAGCTAAC -3'
(R):5'- GGCTCCTAGACCTTTGTATT -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation