Incidental Mutation 'IGL03217:Mettl16'
| ID |
413502 |
| 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 # |
IGL03217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
74661658-74716649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74708529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 536
(M536K)
|
| 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: M576K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: M576K
| 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: M536K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: M536K
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,272,262 (GRCm39) |
P640L |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cd300lf |
T |
A |
11: 115,015,117 (GRCm39) |
T151S |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,945,778 (GRCm39) |
T219A |
probably benign |
Het |
| Eml1 |
G |
T |
12: 108,501,201 (GRCm39) |
E680D |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,035 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,619,418 (GRCm39) |
I1232N |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,295 (GRCm39) |
S170P |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,856,281 (GRCm39) |
I287V |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,065,039 (GRCm39) |
D17G |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,567,432 (GRCm39) |
C270R |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,955 (GRCm39) |
D750G |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,875 (GRCm39) |
E490K |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,428,172 (GRCm39) |
G519D |
possibly damaging |
Het |
| Sox5 |
A |
G |
6: 143,853,223 (GRCm39) |
S352P |
probably damaging |
Het |
| Spart |
G |
T |
3: 55,035,912 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,737,947 (GRCm39) |
T45A |
possibly damaging |
Het |
| Tat |
G |
A |
8: 110,721,818 (GRCm39) |
V242I |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,251,714 (GRCm39) |
|
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 |
|
IGL02079:Mettl16
|
APN |
11 |
74,708,450 (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 |
2016-08-02 |
Incidental Mutation