Incidental Mutation 'IGL00945:Mettl16'
ID |
28562 |
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 # |
IGL00945
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74661658-74716649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74708192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 464
(H464Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010698]
[ENSMUST00000092912]
[ENSMUST00000141755]
|
AlphaFold |
Q9CQG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010698
AA Change: H464Y
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000010698 Gene: ENSMUSG00000010554 AA Change: H464Y
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 benign
Transcript: ENSMUST00000141755
AA Change: H424Y
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000114682 Gene: ENSMUSG00000010554 AA Change: H424Y
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
Aldh5a1 |
A |
G |
13: 25,110,141 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
Dct |
G |
A |
14: 118,277,916 (GRCm39) |
T218M |
probably damaging |
Het |
Hcn2 |
C |
T |
10: 79,569,637 (GRCm39) |
R546* |
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
Pop5 |
A |
G |
5: 115,378,618 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
St7l |
C |
A |
3: 104,833,798 (GRCm39) |
H486Q |
probably damaging |
Het |
Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
G |
3: 89,151,725 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
probably damaging |
Het |
|
Other mutations in Mettl16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |