Incidental Mutation 'R1377:Stoml3'
| ID |
162903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stoml3
|
| Ensembl Gene |
ENSMUSG00000027744 |
| Gene Name |
stomatin (Epb7.2)-like 3 |
| Synonyms |
SRO, SLP3 |
| MMRRC Submission |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
53396074-53415923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53415062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 285
(A285T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029307]
|
| AlphaFold |
Q6PE84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029307
AA Change: A285T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: A285T
| 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: ENSMUST00000157311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198286
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
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 |
|
D3080:Stoml3
|
UTSW |
3 |
53,405,415 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0755:Stoml3
|
UTSW |
3 |
53,405,559 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCTTTGCCAAGAACGTGAGC -3'
(R):5'- TTATCAGTCACCTAGAGTCTCCGCC -3'
Sequencing Primer
(F):5'- GCTTCAAAGTCTCTGAAGTCAGC -3'
(R):5'- TCAAAGCAGTGCATGGCTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation