Incidental Mutation 'IGL00517:Mettl24'
| ID |
6114 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl24
|
| Ensembl Gene |
ENSMUSG00000045555 |
| Gene Name |
methyltransferase like 24 |
| Synonyms |
9030224M15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
40559278-40687079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40686496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 291
(V291A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058747]
|
| AlphaFold |
Q8CCB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058747
AA Change: V291A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049997
Gene: ENSMUSG00000045555
AA Change: V291A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_21
|
131 |
328 |
3.8e-8 |
PFAM |
|
Pfam:Methyltransf_22
|
139 |
344 |
3.7e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
T |
7: 101,037,256 (GRCm39) |
R180W |
probably damaging |
Het |
| Atg4a |
T |
A |
X: 139,945,488 (GRCm39) |
M345K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,015,077 (GRCm39) |
V408A |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,884,988 (GRCm39) |
G551D |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,760,693 (GRCm39) |
V558G |
possibly damaging |
Het |
| Col9a1 |
T |
A |
1: 24,234,615 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,977,225 (GRCm39) |
F46I |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,653,478 (GRCm39) |
I497T |
probably damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,232,941 (GRCm39) |
V75A |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,839,196 (GRCm39) |
H384R |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 27,073,326 (GRCm39) |
T1044S |
probably benign |
Het |
| Lamp2 |
T |
C |
X: 37,545,186 (GRCm39) |
|
probably benign |
Het |
| Lipe |
C |
A |
7: 25,087,985 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,933,606 (GRCm39) |
E1594G |
possibly damaging |
Het |
| Patj |
G |
T |
4: 98,329,308 (GRCm39) |
V521F |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,872,068 (GRCm39) |
D242E |
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,112,267 (GRCm39) |
I92V |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,852,534 (GRCm39) |
Y367H |
probably damaging |
Het |
| Rpl21-ps4 |
T |
C |
14: 11,227,544 (GRCm38) |
|
noncoding transcript |
Het |
| Sigirr |
T |
C |
7: 140,672,147 (GRCm39) |
E266G |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,988,547 (GRCm39) |
T387A |
probably benign |
Het |
| Smim22 |
T |
C |
16: 4,825,860 (GRCm39) |
L54P |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,566,206 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,259,967 (GRCm39) |
V363A |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,663,011 (GRCm39) |
L497S |
probably damaging |
Het |
|
| Other mutations in Mettl24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0381:Mettl24
|
UTSW |
10 |
40,622,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:Mettl24
|
UTSW |
10 |
40,686,615 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1172:Mettl24
|
UTSW |
10 |
40,613,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1430:Mettl24
|
UTSW |
10 |
40,613,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Mettl24
|
UTSW |
10 |
40,613,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1940:Mettl24
|
UTSW |
10 |
40,613,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3424:Mettl24
|
UTSW |
10 |
40,559,637 (GRCm39) |
nonsense |
probably null |
|
|
R4831:Mettl24
|
UTSW |
10 |
40,559,413 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5430:Mettl24
|
UTSW |
10 |
40,613,780 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5889:Mettl24
|
UTSW |
10 |
40,622,486 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6893:Mettl24
|
UTSW |
10 |
40,613,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Mettl24
|
UTSW |
10 |
40,559,509 (GRCm39) |
missense |
probably benign |
|
|
R7177:Mettl24
|
UTSW |
10 |
40,686,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Mettl24
|
UTSW |
10 |
40,686,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7898:Mettl24
|
UTSW |
10 |
40,686,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0022:Mettl24
|
UTSW |
10 |
40,622,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation