Incidental Mutation 'IGL01336:Mettl27'
| ID |
74647 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl27
|
| Ensembl Gene |
ENSMUSG00000040557 |
| Gene Name |
methyltransferase like 27 |
| Synonyms |
Wbscr27 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
134961222-134971491 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 134964734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047196]
[ENSMUST00000068617]
[ENSMUST00000111218]
[ENSMUST00000111219]
[ENSMUST00000111221]
[ENSMUST00000136246]
[ENSMUST00000201847]
[ENSMUST00000148286]
|
| AlphaFold |
Q8BGM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047196
|
| SMART Domains |
Protein: ENSMUSP00000039080
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubie_methyltran
|
29 |
188 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_23
|
45 |
217 |
4.9e-13 |
PFAM |
|
Pfam:MetW
|
62 |
165 |
6.4e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
169 |
4.7e-14 |
PFAM |
|
Pfam:Methyltransf_31
|
67 |
215 |
1.4e-12 |
PFAM |
|
Pfam:Methyltransf_25
|
71 |
162 |
1.4e-10 |
PFAM |
|
Pfam:Methyltransf_12
|
72 |
164 |
1.8e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
166 |
2.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068617
|
| SMART Domains |
Protein: ENSMUSP00000067814
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
46 |
185 |
9e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
164 |
3.8e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
148 |
9.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111218
|
| SMART Domains |
Protein: ENSMUSP00000106849
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubie_methyltran
|
29 |
188 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_23
|
46 |
219 |
6.2e-14 |
PFAM |
|
Pfam:MetW
|
62 |
165 |
6.4e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
169 |
7.2e-15 |
PFAM |
|
Pfam:Methyltransf_31
|
67 |
216 |
1e-12 |
PFAM |
|
Pfam:Methyltransf_25
|
71 |
162 |
1.3e-10 |
PFAM |
|
Pfam:Methyltransf_12
|
72 |
164 |
1.8e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
166 |
5.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111219
|
| SMART Domains |
Protein: ENSMUSP00000106850
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubie_methyltran
|
29 |
188 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_23
|
46 |
219 |
6.2e-14 |
PFAM |
|
Pfam:MetW
|
62 |
165 |
6.4e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
169 |
7.2e-15 |
PFAM |
|
Pfam:Methyltransf_31
|
67 |
216 |
1e-12 |
PFAM |
|
Pfam:Methyltransf_25
|
71 |
162 |
1.3e-10 |
PFAM |
|
Pfam:Methyltransf_12
|
72 |
164 |
1.8e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
166 |
5.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111221
|
| SMART Domains |
Protein: ENSMUSP00000106852
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
46 |
185 |
9e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
164 |
3.8e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
148 |
9.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136246
|
| SMART Domains |
Protein: ENSMUSP00000119451
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubie_methyltran
|
28 |
116 |
1.2e-6 |
PFAM |
|
Pfam:Methyltransf_23
|
45 |
123 |
1.3e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
127 |
2.5e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
127 |
5.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136815
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201847
|
| SMART Domains |
Protein: ENSMUSP00000144170
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ubie_methyltran
|
29 |
188 |
2.3e-9 |
PFAM |
|
Pfam:Methyltransf_23
|
45 |
214 |
6.5e-11 |
PFAM |
|
Pfam:MetW
|
62 |
165 |
8.7e-5 |
PFAM |
|
Pfam:Methyltransf_18
|
67 |
169 |
4e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
67 |
215 |
1.1e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
71 |
162 |
1.6e-8 |
PFAM |
|
Pfam:Methyltransf_12
|
72 |
164 |
2.7e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
72 |
166 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148286
|
| SMART Domains |
Protein: ENSMUSP00000119109
Gene: ENSMUSG00000040557
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ACTIN
|
1 |
59 |
4e-17 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mettl27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0931:Mettl27
|
UTSW |
5 |
134,963,285 (GRCm39) |
splice site |
probably benign |
|
|
R4039:Mettl27
|
UTSW |
5 |
134,969,463 (GRCm39) |
nonsense |
probably null |
|
|
R4839:Mettl27
|
UTSW |
5 |
134,963,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Mettl27
|
UTSW |
5 |
134,969,430 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7226:Mettl27
|
UTSW |
5 |
134,964,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9772:Mettl27
|
UTSW |
5 |
134,962,390 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2013-10-07 |
Incidental Mutation