Incidental Mutation 'IGL02369:Tspan8'
| ID |
290859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115652737-115685798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 115675782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 149
(F149L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035563]
[ENSMUST00000080630]
[ENSMUST00000179196]
|
| AlphaFold |
Q8R3G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035563
AA Change: F149L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: F149L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080630
AA Change: F149L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: F149L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179196
AA Change: F149L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: F149L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220081
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
G |
T |
6: 39,551,678 (GRCm39) |
L148F |
probably damaging |
Het |
| Arhgef10 |
G |
A |
8: 15,047,551 (GRCm39) |
R1138H |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atp6v0b |
T |
A |
4: 117,742,850 (GRCm39) |
I79F |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,334,205 (GRCm39) |
N324Y |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,579,975 (GRCm39) |
I610M |
possibly damaging |
Het |
| Casr |
G |
T |
16: 36,315,051 (GRCm39) |
D929E |
probably benign |
Het |
| Cbln2 |
T |
C |
18: 86,731,479 (GRCm39) |
S96P |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,238,344 (GRCm39) |
K73E |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,814,645 (GRCm39) |
Y457C |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,535,000 (GRCm39) |
Y152H |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,751,969 (GRCm39) |
S910T |
possibly damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,947 (GRCm39) |
S103P |
probably benign |
Het |
| Gm12886 |
A |
G |
4: 121,280,229 (GRCm39) |
S16P |
unknown |
Het |
| Gpr146 |
T |
C |
5: 139,378,443 (GRCm39) |
Y82H |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,399,293 (GRCm39) |
Q4282* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,943,722 (GRCm39) |
E434V |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,893 (GRCm39) |
|
probably benign |
Het |
| Islr |
A |
C |
9: 58,064,907 (GRCm39) |
V200G |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,815,737 (GRCm39) |
D400G |
probably benign |
Het |
| Lonrf2 |
A |
G |
1: 38,850,913 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,294,980 (GRCm39) |
L3446Q |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,164,794 (GRCm39) |
V1425I |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,251,100 (GRCm39) |
|
probably benign |
Het |
| Nutm2 |
T |
G |
13: 50,623,944 (GRCm39) |
S214A |
probably benign |
Het |
| Or10aa1 |
T |
A |
1: 173,869,539 (GRCm39) |
W8R |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,665 (GRCm39) |
F66S |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,977,072 (GRCm39) |
S241P |
probably damaging |
Het |
| Or6c33 |
C |
A |
10: 129,853,425 (GRCm39) |
A65E |
possibly damaging |
Het |
| Pax5 |
A |
T |
4: 44,691,919 (GRCm39) |
M109K |
probably damaging |
Het |
| Pfkfb2 |
G |
A |
1: 130,628,572 (GRCm39) |
R345W |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,342,977 (GRCm39) |
D105G |
unknown |
Het |
| Prdm11 |
A |
G |
2: 92,805,864 (GRCm39) |
V362A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,171,393 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,760,924 (GRCm39) |
T103A |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,409,357 (GRCm39) |
I493V |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,146 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,634,382 (GRCm39) |
S3791R |
possibly damaging |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,222 (GRCm39) |
S681* |
probably null |
Het |
| Stmnd1 |
T |
A |
13: 46,439,029 (GRCm39) |
I87K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,772,720 (GRCm39) |
E2425G |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation