Incidental Mutation 'R4042:Mettl16'
| ID |
315777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl16
|
| Ensembl Gene |
ENSMUSG00000010554 |
| Gene Name |
methyltransferase 16, N6-methyladenosine |
| Synonyms |
2810013M15Rik, 2610100D03Rik, A830095F14Rik, Mett10d |
| MMRRC Submission |
040851-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4042 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74661658-74716649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74683118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 187
(F187I)
|
| 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: F187I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010698
Gene: ENSMUSG00000010554
AA Change: F187I
| 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 damaging
Transcript: ENSMUST00000092912
AA Change: F187I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090590
Gene: ENSMUSG00000010554
AA Change: F187I
| 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 |
probably damaging
Transcript: ENSMUST00000141755
AA Change: F187I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114682
Gene: ENSMUSG00000010554
AA Change: F187I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
A |
G |
17: 33,768,514 (GRCm39) |
H864R |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,162 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
G |
6: 116,437,979 (GRCm39) |
S3P |
possibly damaging |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,091 (GRCm39) |
E85K |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,830,253 (GRCm39) |
I1014N |
probably damaging |
Het |
| Cog1 |
A |
T |
11: 113,551,836 (GRCm39) |
Q156L |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,014,678 (GRCm39) |
S909F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,477,480 (GRCm39) |
G3339D |
probably damaging |
Het |
| Cst11 |
A |
G |
2: 148,613,200 (GRCm39) |
S42P |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,290,269 (GRCm39) |
R67H |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,813,896 (GRCm39) |
R3405L |
probably benign |
Het |
| H2-Ab1 |
T |
C |
17: 34,483,834 (GRCm39) |
V65A |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,721,134 (GRCm39) |
M1095K |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Miga2 |
T |
C |
2: 30,257,738 (GRCm39) |
I12T |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,624 (GRCm39) |
Y3857H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,317,871 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5bb10 |
A |
T |
19: 12,206,676 (GRCm39) |
I83N |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,934,241 (GRCm39) |
D823G |
probably benign |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Prune2 |
T |
C |
19: 16,981,190 (GRCm39) |
|
probably null |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Homo |
| Rgl2 |
C |
T |
17: 34,156,236 (GRCm39) |
R775W |
probably damaging |
Het |
| Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,761,450 (GRCm39) |
Y162H |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,584 (GRCm39) |
M8377V |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,142,839 (GRCm39) |
I107L |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Ythdc1 |
T |
C |
5: 86,964,383 (GRCm39) |
I76T |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTACACACAGGCTTGCCG -3'
(R):5'- CTGTTGAACTGGGAAGTCTATCTG -3'
Sequencing Primer
(F):5'- ACACAGGCTTGCCGTCATTTTC -3'
(R):5'- AAGCTAGCTAAGCATTTGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation