Incidental Mutation 'IGL03247:Tm4sf1'
| ID |
414455 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tm4sf1
|
| Ensembl Gene |
ENSMUSG00000027800 |
| Gene Name |
transmembrane 4 superfamily member 1 |
| Synonyms |
M3s1, L6, 12A8 target antigen, L6 antigen |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL03247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
57193032-57209409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57200436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 89
(S89P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029376]
[ENSMUST00000171384]
[ENSMUST00000196506]
[ENSMUST00000196979]
|
| AlphaFold |
Q64302 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029376
AA Change: S89P
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
194 |
6e-77 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171384
AA Change: S89P
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
195 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196506
AA Change: S89P
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
137 |
3.5e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196704
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196979
AA Change: S89P
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
194 |
6e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198030
|
| 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 antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
| Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
| Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
| Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
| Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
| Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
| Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
| Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
| Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
| Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
probably benign |
Het |
|
| Other mutations in Tm4sf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02004:Tm4sf1
|
APN |
3 |
57,200,499 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02988:Tm4sf1
|
UTSW |
3 |
57,200,537 (GRCm39) |
splice site |
probably null |
|
|
R0195:Tm4sf1
|
UTSW |
3 |
57,200,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Tm4sf1
|
UTSW |
3 |
57,200,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Tm4sf1
|
UTSW |
3 |
57,202,206 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4801:Tm4sf1
|
UTSW |
3 |
57,202,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Tm4sf1
|
UTSW |
3 |
57,202,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Tm4sf1
|
UTSW |
3 |
57,200,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Tm4sf1
|
UTSW |
3 |
57,200,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Tm4sf1
|
UTSW |
3 |
57,200,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5670:Tm4sf1
|
UTSW |
3 |
57,200,508 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5946:Tm4sf1
|
UTSW |
3 |
57,200,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6905:Tm4sf1
|
UTSW |
3 |
57,202,330 (GRCm39) |
start gained |
probably benign |
|
|
R7334:Tm4sf1
|
UTSW |
3 |
57,200,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Tm4sf1
|
UTSW |
3 |
57,202,176 (GRCm39) |
missense |
probably benign |
|
|
R8013:Tm4sf1
|
UTSW |
3 |
57,200,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8014:Tm4sf1
|
UTSW |
3 |
57,200,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8024:Tm4sf1
|
UTSW |
3 |
57,195,186 (GRCm39) |
nonsense |
probably null |
|
|
R9264:Tm4sf1
|
UTSW |
3 |
57,202,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9430:Tm4sf1
|
UTSW |
3 |
57,197,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation