Incidental Mutation 'R1269:Tspan8'
| ID |
151251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspan8
|
| Ensembl Gene |
ENSMUSG00000034127 |
| Gene Name |
tetraspanin 8 |
| Synonyms |
Tm4sf3, E330007O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1269 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
115652737-115685798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115685287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 232
(I232V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035563]
[ENSMUST00000080630]
[ENSMUST00000179196]
|
| AlphaFold |
Q8R3G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035563
AA Change: I232V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: I232V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080630
AA Change: I232V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: I232V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179196
AA Change: I232V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: I232V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220081
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,742,857 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
C |
T |
2: 118,591,871 (GRCm39) |
E90K |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Epc2 |
T |
A |
2: 49,412,588 (GRCm39) |
S189T |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,428,823 (GRCm39) |
S83P |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,247,016 (GRCm39) |
D809G |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,202 (GRCm39) |
E1195G |
probably benign |
Het |
| Nfasc |
G |
T |
1: 132,538,526 (GRCm39) |
P454T |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,052,763 (GRCm39) |
I894N |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 89,814,757 (GRCm39) |
R129* |
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,607,243 (GRCm39) |
I101T |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,021,590 (GRCm39) |
D38G |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,714,956 (GRCm39) |
S3P |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sytl1 |
A |
T |
4: 132,983,426 (GRCm39) |
L370Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,899,185 (GRCm39) |
I2658F |
possibly damaging |
Het |
| Tmc5 |
A |
G |
7: 118,265,816 (GRCm39) |
M769V |
probably benign |
Het |
| Wbp1 |
G |
A |
6: 83,096,584 (GRCm39) |
T156I |
probably benign |
Het |
| Wfikkn2 |
T |
C |
11: 94,129,301 (GRCm39) |
Y280C |
probably damaging |
Het |
| Xrcc6 |
A |
T |
15: 81,907,048 (GRCm39) |
Q123H |
possibly damaging |
Het |
| Zfp526 |
T |
C |
7: 24,923,788 (GRCm39) |
S16P |
probably benign |
Het |
|
| Other mutations in Tspan8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Tspan8
|
APN |
10 |
115,680,044 (GRCm39) |
splice site |
probably benign |
|
|
IGL01738:Tspan8
|
APN |
10 |
115,653,570 (GRCm39) |
splice site |
probably null |
|
|
IGL01755:Tspan8
|
APN |
10 |
115,671,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01993:Tspan8
|
APN |
10 |
115,675,913 (GRCm39) |
splice site |
probably benign |
|
|
IGL02369:Tspan8
|
APN |
10 |
115,675,783 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02369:Tspan8
|
APN |
10 |
115,675,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB001:Tspan8
|
UTSW |
10 |
115,669,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB011:Tspan8
|
UTSW |
10 |
115,669,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4131001:Tspan8
|
UTSW |
10 |
115,653,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Tspan8
|
UTSW |
10 |
115,679,949 (GRCm39) |
splice site |
probably benign |
|
|
R1850:Tspan8
|
UTSW |
10 |
115,669,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1975:Tspan8
|
UTSW |
10 |
115,680,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1976:Tspan8
|
UTSW |
10 |
115,680,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1977:Tspan8
|
UTSW |
10 |
115,680,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4058:Tspan8
|
UTSW |
10 |
115,671,187 (GRCm39) |
nonsense |
probably null |
|
|
R4059:Tspan8
|
UTSW |
10 |
115,671,187 (GRCm39) |
nonsense |
probably null |
|
|
R4999:Tspan8
|
UTSW |
10 |
115,653,534 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5879:Tspan8
|
UTSW |
10 |
115,669,156 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6290:Tspan8
|
UTSW |
10 |
115,663,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6358:Tspan8
|
UTSW |
10 |
115,669,132 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6524:Tspan8
|
UTSW |
10 |
115,679,984 (GRCm39) |
missense |
probably benign |
|
|
R7924:Tspan8
|
UTSW |
10 |
115,669,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8139:Tspan8
|
UTSW |
10 |
115,675,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9427:Tspan8
|
UTSW |
10 |
115,669,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTGAAGATTGGCTGGCAAG -3'
(R):5'- AGATCCCAGATTCACTGCCCTAGAG -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GACTGCCTCAGTGAGATACTTCAA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation