Incidental Mutation 'R8160:Mettl16'
ID |
633481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mettl16
|
Ensembl Gene |
ENSMUSG00000010554 |
Gene Name |
methyltransferase 16, N6-methyladenosine |
Synonyms |
2810013M15Rik, 2610100D03Rik, A830095F14Rik, Mett10d |
MMRRC Submission |
067586-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8160 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74661658-74716649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74708505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 568
(V568A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010698]
[ENSMUST00000092912]
[ENSMUST00000141755]
|
AlphaFold |
Q9CQG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010698
AA Change: V568A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000010698 Gene: ENSMUSG00000010554 AA Change: V568A
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 |
probably damaging
Transcript: ENSMUST00000141755
AA Change: V528A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000114682 Gene: ENSMUSG00000010554 AA Change: V528A
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
C |
T |
7: 133,569,770 (GRCm39) |
|
probably null |
Het |
Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
Cdh24 |
C |
A |
14: 54,875,946 (GRCm39) |
V208F |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
Mvb12b |
G |
T |
2: 33,730,234 (GRCm39) |
D81E |
probably benign |
Het |
Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
Ppm1h |
A |
T |
10: 122,638,341 (GRCm39) |
T204S |
probably benign |
Het |
Rad51b |
T |
A |
12: 79,350,115 (GRCm39) |
L70I |
probably benign |
Het |
Smok3c |
A |
G |
5: 138,063,286 (GRCm39) |
T258A |
possibly damaging |
Het |
Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
probably damaging |
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 |
|
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 |
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'- TTACTGTGCCAGGAGGAGAC -3'
(R):5'- AACACAGGGTAACTTCTGGATAC -3'
Sequencing Primer
(F):5'- AGGAGACTCCCGAGGCCAC -3'
(R):5'- CACAGGGTAACTTCTGGATACTAAGC -3'
|
Posted On |
2020-07-13 |