Incidental Mutation 'R6524:Tspan8'
| ID |
521607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspan8
|
| Ensembl Gene |
ENSMUSG00000034127 |
| Gene Name |
tetraspanin 8 |
| Synonyms |
Tm4sf3, E330007O21Rik |
| MMRRC Submission |
044650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115652737-115685798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115679984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 200
(F200L)
|
| 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: F200L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: F200L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080630
AA Change: F200L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: F200L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179196
AA Change: F200L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: F200L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
7 |
232 |
8.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220081
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
| Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,274,902 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
G |
18: 10,582,188 (GRCm39) |
|
probably null |
Het |
| Fam83a |
T |
C |
15: 57,858,736 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
| H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
| Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
| Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
| Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
| Or5h23 |
C |
T |
16: 58,906,640 (GRCm39) |
V69M |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
| Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
| Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
| Six3 |
C |
T |
17: 85,929,398 (GRCm39) |
T244I |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
| Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
| Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,687,406 (GRCm39) |
D208E |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
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 |
|
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 |
|
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 |
|
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'- AGACGGCTCAAATGCTCTTTAG -3'
(R):5'- ACAAGTCTTATTGCCCACAGC -3'
Sequencing Primer
(F):5'- GCTCTTTAGCTATTGAGTAAGAGTC -3'
(R):5'- AGCAGCCATGGACACTGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation