Incidental Mutation 'IGL02079:Mettl16'
| ID |
186054 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl16
|
| Ensembl Gene |
ENSMUSG00000010554 |
| Gene Name |
methyltransferase 16, N6-methyladenosine |
| Synonyms |
2810013M15Rik, 2610100D03Rik, A830095F14Rik, Mett10d |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
74661658-74716649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74708450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 510
(C510G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010698]
[ENSMUST00000092912]
[ENSMUST00000141755]
|
| AlphaFold |
Q9CQG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010698
AA Change: C550G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: C550G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_10
|
1 |
268 |
2.9e-114 |
PFAM |
|
Pfam:MTS
|
92 |
202 |
1.8e-7 |
PFAM |
|
Pfam:Methyltransf_10
|
276 |
331 |
5.5e-21 |
PFAM |
|
low complexity region
|
421 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092912
|
| SMART Domains |
Protein: ENSMUSP00000090590
Gene: ENSMUSG00000010554
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_10
|
1 |
211 |
7.8e-97 |
PFAM |
|
Pfam:PrmA
|
85 |
185 |
6.5e-7 |
PFAM |
|
Pfam:MTS
|
92 |
200 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134571
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141755
AA Change: C510G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: C510G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_10
|
1 |
291 |
4.8e-138 |
PFAM |
|
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144692
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,579,960 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,410,877 (GRCm39) |
M204K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,616 (GRCm39) |
V2422A |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,868 (GRCm39) |
|
probably null |
Het |
| Arsa |
T |
C |
15: 89,357,554 (GRCm39) |
T470A |
probably benign |
Het |
| Bri3bp |
T |
C |
5: 125,531,753 (GRCm39) |
V233A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,388,675 (GRCm39) |
N236I |
possibly damaging |
Het |
| Ephb6 |
T |
A |
6: 41,592,948 (GRCm39) |
D395E |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,505,641 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,323,089 (GRCm39) |
N1080I |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,888,768 (GRCm39) |
D266E |
probably benign |
Het |
| Gspt1 |
A |
G |
16: 11,058,693 (GRCm39) |
S123P |
probably benign |
Het |
| Kctd17 |
T |
C |
15: 78,314,356 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,359,312 (GRCm39) |
C313S |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,544,126 (GRCm39) |
S106R |
probably benign |
Het |
| Lgr5 |
A |
C |
10: 115,288,099 (GRCm39) |
S776R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,146,811 (GRCm39) |
T101A |
possibly damaging |
Het |
| Myh6 |
A |
T |
14: 55,187,998 (GRCm39) |
L1152Q |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,681,001 (GRCm39) |
R87H |
possibly damaging |
Het |
| Npepl1 |
C |
T |
2: 173,961,183 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,950,511 (GRCm39) |
M548K |
probably damaging |
Het |
| Or10a48 |
T |
A |
7: 108,425,143 (GRCm39) |
E21V |
probably damaging |
Het |
| Or4c11c |
T |
A |
2: 88,661,991 (GRCm39) |
C177S |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,557,449 (GRCm39) |
Q69L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,819,067 (GRCm39) |
V192A |
possibly damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,792,706 (GRCm39) |
I211N |
probably benign |
Het |
| Plekhg3 |
T |
A |
12: 76,607,203 (GRCm39) |
Y88N |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,566,540 (GRCm39) |
C58Y |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rusc2 |
A |
G |
4: 43,425,668 (GRCm39) |
S1258G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,153,704 (GRCm39) |
R710G |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,766,885 (GRCm39) |
S457P |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,198,272 (GRCm39) |
G1205D |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,978 (GRCm39) |
S1080P |
probably benign |
Het |
|
| Other mutations in Mettl16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Mettl16
|
APN |
11 |
74,708,192 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01538:Mettl16
|
APN |
11 |
74,683,093 (GRCm39) |
nonsense |
probably null |
|
|
IGL01893:Mettl16
|
APN |
11 |
74,696,097 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03217:Mettl16
|
APN |
11 |
74,708,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Mettl16
|
UTSW |
11 |
74,708,195 (GRCm39) |
missense |
probably benign |
|
|
R2117:Mettl16
|
UTSW |
11 |
74,693,755 (GRCm39) |
missense |
probably benign |
|
|
R4042:Mettl16
|
UTSW |
11 |
74,683,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Mettl16
|
UTSW |
11 |
74,708,127 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5031:Mettl16
|
UTSW |
11 |
74,693,825 (GRCm39) |
missense |
probably benign |
|
|
R5056:Mettl16
|
UTSW |
11 |
74,707,766 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5951:Mettl16
|
UTSW |
11 |
74,686,823 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5986:Mettl16
|
UTSW |
11 |
74,683,063 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6012:Mettl16
|
UTSW |
11 |
74,678,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Mettl16
|
UTSW |
11 |
74,686,832 (GRCm39) |
nonsense |
probably null |
|
|
R6450:Mettl16
|
UTSW |
11 |
74,696,164 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7744:Mettl16
|
UTSW |
11 |
74,693,829 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7959:Mettl16
|
UTSW |
11 |
74,707,852 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8086:Mettl16
|
UTSW |
11 |
74,696,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8160:Mettl16
|
UTSW |
11 |
74,708,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9180:Mettl16
|
UTSW |
11 |
74,693,826 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9257:Mettl16
|
UTSW |
11 |
74,708,127 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9327:Mettl16
|
UTSW |
11 |
74,696,089 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9496:Mettl16
|
UTSW |
11 |
74,707,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
X0012:Mettl16
|
UTSW |
11 |
74,707,851 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0028:Mettl16
|
UTSW |
11 |
74,707,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation