Incidental Mutation 'R5879:Tspan8'
ID |
455725 |
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 # |
R5879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
115652737-115685798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115669156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 64
(S64P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035563]
[ENSMUST00000080630]
[ENSMUST00000179196]
[ENSMUST00000217900]
|
AlphaFold |
Q8R3G9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035563
AA Change: S64P
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049243 Gene: ENSMUSG00000034127 AA Change: S64P
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
7 |
232 |
4.8e-51 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080630
AA Change: S64P
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079463 Gene: ENSMUSG00000034127 AA Change: S64P
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179196
AA Change: S64P
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136645 Gene: ENSMUSG00000034127 AA Change: S64P
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217900
AA Change: S64P
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220081
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
C |
T |
7: 44,796,930 (GRCm39) |
W66* |
probably null |
Het |
Arhgap39 |
T |
C |
15: 76,636,007 (GRCm39) |
D76G |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,550,924 (GRCm39) |
|
probably null |
Het |
C1qtnf2 |
T |
C |
11: 43,376,835 (GRCm39) |
M99T |
probably damaging |
Het |
Cyren |
A |
G |
6: 34,851,593 (GRCm39) |
L87P |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,912,379 (GRCm39) |
C392Y |
possibly damaging |
Het |
Ephb4 |
C |
A |
5: 137,358,678 (GRCm39) |
P287Q |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,941,485 (GRCm39) |
R126L |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,271,719 (GRCm39) |
M858V |
probably damaging |
Het |
Gprin3 |
A |
C |
6: 59,331,698 (GRCm39) |
I203R |
probably benign |
Het |
Insr |
G |
T |
8: 3,248,173 (GRCm39) |
Y457* |
probably null |
Het |
Ipo13 |
G |
A |
4: 117,760,400 (GRCm39) |
T649I |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,392,678 (GRCm39) |
D818G |
possibly damaging |
Het |
Llgl1 |
G |
A |
11: 60,603,806 (GRCm39) |
G1016R |
probably benign |
Het |
Loxl4 |
A |
G |
19: 42,596,066 (GRCm39) |
V142A |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,340,992 (GRCm39) |
I464V |
probably benign |
Het |
Mycs |
C |
A |
X: 5,380,131 (GRCm39) |
K316N |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,103,839 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,781,909 (GRCm39) |
F516S |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,882,743 (GRCm39) |
S540G |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,242 (GRCm39) |
T653S |
probably damaging |
Het |
Or8s16 |
C |
T |
15: 98,211,369 (GRCm39) |
V21I |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,500,685 (GRCm39) |
N1468K |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,611,503 (GRCm39) |
I258T |
probably damaging |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,161 (GRCm39) |
Y487F |
possibly damaging |
Het |
Prop1 |
C |
T |
11: 50,844,153 (GRCm39) |
V27M |
probably damaging |
Het |
Rfx4 |
T |
G |
10: 84,650,625 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,422,437 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,595,260 (GRCm39) |
F541I |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,699,807 (GRCm39) |
V1057E |
possibly damaging |
Het |
Synpo2 |
A |
T |
3: 122,907,946 (GRCm39) |
W457R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,193,721 (GRCm39) |
N238Y |
possibly damaging |
Het |
Tiam2 |
T |
A |
17: 3,487,540 (GRCm39) |
M687K |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,346,438 (GRCm39) |
E1866G |
probably benign |
Het |
Ugt2b37 |
C |
T |
5: 87,402,265 (GRCm39) |
G122D |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,237,111 (GRCm39) |
E53G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,071 (GRCm39) |
D963G |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,764,226 (GRCm39) |
Y368N |
possibly damaging |
Het |
Wdr5 |
A |
G |
2: 27,418,323 (GRCm39) |
T208A |
probably benign |
Het |
Zbtb18 |
A |
G |
1: 177,275,936 (GRCm39) |
Y423C |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,839,696 (GRCm39) |
|
probably null |
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 |
R1269:Tspan8
|
UTSW |
10 |
115,685,287 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- CTAGGACAATTCAAGGCTGGAAAC -3'
(R):5'- GTCCAAAACCTATGCCATAGTATCTTC -3'
Sequencing Primer
(F):5'- TCAGGAGGTGCCAACATTTC -3'
(R):5'- CCTATGCCATAGTATCTTCCATAAAC -3'
|
Posted On |
2017-02-10 |