Incidental Mutation 'R4058:Tspan8'
| ID |
314350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspan8
|
| Ensembl Gene |
ENSMUSG00000034127 |
| Gene Name |
tetraspanin 8 |
| Synonyms |
Tm4sf3, E330007O21Rik |
| MMRRC Submission |
040969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4058 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
115652737-115685798 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 115671187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 115
(R115*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035563]
[ENSMUST00000080630]
[ENSMUST00000179196]
[ENSMUST00000217900]
|
| AlphaFold |
Q8R3G9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035563
AA Change: R115*
|
| SMART Domains |
Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: R115*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000080630
AA Change: R115*
|
| SMART Domains |
Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: R115*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179196
AA Change: R115*
|
| SMART Domains |
Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: R115*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220081
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
88% (38/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
| Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
| H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
| Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
| Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
| Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
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 |
|
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 |
|
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'- GCTGCTGATTCTGATTCTGC -3'
(R):5'- GGGACTAGAAACTGTTCCAAATAC -3'
Sequencing Primer
(F):5'- CTGATTCTGATTCTGCAAGTGGC -3'
(R):5'- TGGCTACAGCTCTAAAGGACCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation