Incidental Mutation 'IGL01573:Mettl5'
| ID |
91156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl5
|
| Ensembl Gene |
ENSMUSG00000051730 |
| Gene Name |
methyltransferase 5, N6-adenosine |
| Synonyms |
2810410A08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.659)
|
| Stock # |
IGL01573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69701542-69715959 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69711659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 69
(A69V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060447]
[ENSMUST00000142127]
|
| AlphaFold |
Q8K1A0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060447
AA Change: A69V
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000050907
Gene: ENSMUSG00000051730
AA Change: A69V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:Cons_hypoth95
|
21 |
184 |
1.8e-12 |
PFAM |
|
Pfam:UPF0020
|
25 |
170 |
3.8e-8 |
PFAM |
|
Pfam:PrmA
|
35 |
127 |
8.4e-14 |
PFAM |
|
Pfam:MTS
|
36 |
174 |
2.2e-16 |
PFAM |
|
Pfam:Methyltransf_31
|
49 |
199 |
4e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
51 |
171 |
8.1e-11 |
PFAM |
|
Pfam:Methyltransf_15
|
52 |
179 |
1.1e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
52 |
182 |
3.9e-8 |
PFAM |
|
Pfam:Methyltransf_25
|
55 |
171 |
5.2e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
56 |
131 |
8e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135487
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142127
AA Change: A69V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121474
Gene: ENSMUSG00000051730
AA Change: A69V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:Cons_hypoth95
|
21 |
141 |
8.7e-12 |
PFAM |
|
Pfam:UPF0020
|
24 |
141 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_16
|
31 |
126 |
5e-7 |
PFAM |
|
Pfam:PrmA
|
34 |
127 |
4e-15 |
PFAM |
|
Pfam:MTS
|
35 |
141 |
1.4e-17 |
PFAM |
|
Pfam:Methyltransf_31
|
49 |
142 |
5.2e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
51 |
141 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_15
|
52 |
140 |
4.5e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
52 |
140 |
1.3e-14 |
PFAM |
|
Pfam:Methyltransf_25
|
55 |
142 |
4.7e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
56 |
134 |
3.8e-6 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gntl1 |
A |
G |
11: 121,561,789 (GRCm39) |
S58P |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,113 (GRCm39) |
D1018G |
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,240,936 (GRCm39) |
I108V |
possibly damaging |
Het |
| Il7 |
T |
C |
3: 7,638,903 (GRCm39) |
I154M |
possibly damaging |
Het |
| Itga9 |
C |
A |
9: 118,706,298 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,438,640 (GRCm39) |
|
probably benign |
Het |
| Lrrc72 |
T |
A |
12: 36,262,561 (GRCm39) |
|
probably null |
Het |
| Mbd3 |
G |
T |
10: 80,229,095 (GRCm39) |
Q233K |
probably benign |
Het |
| Naip1 |
C |
A |
13: 100,563,890 (GRCm39) |
C425F |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,162,090 (GRCm39) |
I395V |
unknown |
Het |
| Nelfb |
A |
G |
2: 25,093,969 (GRCm39) |
L393P |
probably damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,545 (GRCm39) |
M37K |
probably damaging |
Het |
| Rgs5 |
T |
C |
1: 169,504,413 (GRCm39) |
I21T |
probably benign |
Het |
| Slc22a2 |
G |
A |
17: 12,824,848 (GRCm39) |
V237I |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,318,209 (GRCm39) |
M621V |
probably benign |
Het |
| Slco1a4 |
A |
G |
6: 141,758,577 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,185 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,274,700 (GRCm39) |
M15T |
possibly damaging |
Het |
|
| Other mutations in Mettl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1355:Mettl5
|
UTSW |
2 |
69,711,764 (GRCm39) |
splice site |
probably null |
|
|
R1370:Mettl5
|
UTSW |
2 |
69,711,764 (GRCm39) |
splice site |
probably null |
|
|
R1416:Mettl5
|
UTSW |
2 |
69,701,633 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1463:Mettl5
|
UTSW |
2 |
69,715,590 (GRCm39) |
splice site |
probably benign |
|
|
R1842:Mettl5
|
UTSW |
2 |
69,715,686 (GRCm39) |
missense |
unknown |
|
|
R1886:Mettl5
|
UTSW |
2 |
69,711,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2989:Mettl5
|
UTSW |
2 |
69,711,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4290:Mettl5
|
UTSW |
2 |
69,711,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5646:Mettl5
|
UTSW |
2 |
69,711,663 (GRCm39) |
nonsense |
probably null |
|
|
R6313:Mettl5
|
UTSW |
2 |
69,702,071 (GRCm39) |
splice site |
probably null |
|
|
R9349:Mettl5
|
UTSW |
2 |
69,702,113 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9623:Mettl5
|
UTSW |
2 |
69,711,717 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9668:Mettl5
|
UTSW |
2 |
69,711,723 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation