Incidental Mutation 'D3080:Stoml3'
| ID |
113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stoml3
|
| Ensembl Gene |
ENSMUSG00000027744 |
| Gene Name |
stomatin (Epb7.2)-like 3 |
| Synonyms |
SRO, SLP3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
D3080
of strain
grasshopper
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
53396074-53415923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53405415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 32
(F32S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029307]
|
| AlphaFold |
Q6PE84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029307
AA Change: F32S
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: F32S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
PHB
|
45 |
204 |
3.56e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124702
|
| Meta Mutation Damage Score |
0.0924 |
| Coding Region Coverage |
|
| Validation Efficiency |
82% (141/173) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display loss of mechanoreceptor function and impaired tactile-driven behaviors. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Gene trapped(1) |
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
A |
5: 88,119,846 (GRCm39) |
P201Q |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,160,129 (GRCm39) |
S2417R |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,106,495 (GRCm39) |
|
|
Het |
| Dscaml1 |
A |
T |
9: 45,595,623 (GRCm39) |
H783L |
probably benign |
Het |
| Fbxl5 |
A |
T |
5: 43,915,708 (GRCm39) |
M568K |
probably benign |
Het |
| Gab1 |
T |
A |
8: 81,493,007 (GRCm39) |
D710V |
probably damaging |
Homo |
| Gabrr2 |
T |
C |
4: 33,084,466 (GRCm39) |
F128S |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,295,774 (GRCm39) |
V343E |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,143,766 (GRCm39) |
T44A |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,203,572 (GRCm39) |
T1362N |
possibly damaging |
Homo |
| Or6f2 |
G |
A |
7: 139,756,275 (GRCm39) |
V81M |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,728,976 (GRCm39) |
N649K |
probably damaging |
Homo |
| Pde4dip |
T |
C |
3: 97,674,146 (GRCm39) |
K257E |
probably damaging |
Het |
| Pfpl |
G |
A |
19: 12,406,196 (GRCm39) |
R149Q |
probably damaging |
Homo |
| Pou2f2 |
G |
T |
7: 24,796,558 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,135 (GRCm39) |
D156G |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,511,691 (GRCm39) |
D1107G |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,913,987 (GRCm39) |
Y239H |
probably damaging |
Het |
| Tnnc1 |
C |
A |
14: 30,932,147 (GRCm39) |
D62E |
probably damaging |
Homo |
| Vsig10 |
C |
T |
5: 117,481,884 (GRCm39) |
A358V |
probably damaging |
Het |
|
| Other mutations in Stoml3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01733:Stoml3
|
APN |
3 |
53,405,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02394:Stoml3
|
APN |
3 |
53,405,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02406:Stoml3
|
APN |
3 |
53,410,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Stoml3
|
UTSW |
3 |
53,405,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Stoml3
|
UTSW |
3 |
53,405,559 (GRCm39) |
nonsense |
probably null |
|
|
R1377:Stoml3
|
UTSW |
3 |
53,415,062 (GRCm39) |
missense |
probably benign |
|
|
R1702:Stoml3
|
UTSW |
3 |
53,412,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1945:Stoml3
|
UTSW |
3 |
53,412,866 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2155:Stoml3
|
UTSW |
3 |
53,415,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Stoml3
|
UTSW |
3 |
53,414,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Stoml3
|
UTSW |
3 |
53,408,213 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5717:Stoml3
|
UTSW |
3 |
53,412,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Stoml3
|
UTSW |
3 |
53,414,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6291:Stoml3
|
UTSW |
3 |
53,414,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Stoml3
|
UTSW |
3 |
53,410,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Stoml3
|
UTSW |
3 |
53,405,397 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9293:Stoml3
|
UTSW |
3 |
53,408,185 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9519:Stoml3
|
UTSW |
3 |
53,405,402 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Stoml3
|
UTSW |
3 |
53,410,647 (GRCm39) |
nonsense |
probably null |
|
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a G to A transition at position 95 of the Stoml3 transcript in exon 2 of 7 total exons. Two transcripts of the Stoml3 gene are displayed on Ensembl. The mutated nucleotide causes a phenylalanine to serine substitution at amino acid 32 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Stoml3 gene encodes for a 287 amino acid single-pass type III membrane protein found in olfactory epithelium. STOML3 is detected in lipid rafts, apical membranes and olfactory cilia (Uniprot Q6PE84) .
The F32S change occurs in the transmembrane domain and is predicted to be probably benign by the PolyPhen program. |
| Posted On |
2010-03-11 |
Incidental Mutation