Incidental Mutation 'R9533:Tspan1'
| ID |
719556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tspan1
|
| Ensembl Gene |
ENSMUSG00000028699 |
| Gene Name |
tetraspanin 1 |
| Synonyms |
9030418M05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116019066-116024798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116020211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 233
(M233L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030465]
[ENSMUST00000106494]
[ENSMUST00000106496]
[ENSMUST00000106498]
[ENSMUST00000120083]
[ENSMUST00000121052]
[ENSMUST00000143426]
|
| AlphaFold |
Q99J59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030465
AA Change: M233L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030465
Gene: ENSMUSG00000028699
AA Change: M233L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
6 |
239 |
2.2e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106494
|
| SMART Domains |
Protein: ENSMUSP00000102103
Gene: ENSMUSG00000028700
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
106 |
195 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
271 |
591 |
3e-52 |
PFAM |
|
low complexity region
|
623 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106496
|
| SMART Domains |
Protein: ENSMUSP00000102105
Gene: ENSMUSG00000028700
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
129 |
217 |
5e-10 |
PDB |
|
Pfam:GNT-I
|
260 |
580 |
2.9e-52 |
PFAM |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106498
|
| SMART Domains |
Protein: ENSMUSP00000102107
Gene: ENSMUSG00000028700
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
129 |
217 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
293 |
613 |
3.2e-52 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120083
|
| SMART Domains |
Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:ILEI
|
129 |
220 |
8.9e-28 |
PFAM |
|
Pfam:GNT-I
|
293 |
612 |
1.9e-51 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121052
|
| SMART Domains |
Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
PDB:2YOQ|C
|
129 |
217 |
6e-10 |
PDB |
|
Pfam:GNT-I
|
293 |
613 |
3.2e-52 |
PFAM |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143426
|
| SMART Domains |
Protein: ENSMUSP00000121906
Gene: ENSMUSG00000028699
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
6 |
224 |
7.3e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.1162 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (40/40) |
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
C |
T |
11: 110,102,582 (GRCm39) |
V881I |
probably benign |
Het |
| Acot1 |
C |
T |
12: 84,063,988 (GRCm39) |
S57F |
|
Het |
| Actr3 |
T |
C |
1: 125,339,048 (GRCm39) |
I97V |
probably benign |
Het |
| C4b |
A |
T |
17: 34,956,698 (GRCm39) |
C633* |
probably null |
Het |
| Cdh19 |
T |
A |
1: 110,817,589 (GRCm39) |
T718S |
probably damaging |
Het |
| Coasy |
T |
A |
11: 100,975,852 (GRCm39) |
S355T |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,132 (GRCm39) |
I374V |
possibly damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,675,050 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,073,178 (GRCm39) |
M760K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,957,566 (GRCm39) |
Y428H |
probably damaging |
Het |
| Fst |
G |
A |
13: 114,592,397 (GRCm39) |
R107* |
probably null |
Het |
| Gba1 |
A |
G |
3: 89,114,756 (GRCm39) |
T387A |
probably benign |
Het |
| Gid8 |
A |
T |
2: 180,358,713 (GRCm39) |
Q126L |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,383,929 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,924 (GRCm39) |
S535L |
probably benign |
Het |
| Krt79 |
G |
A |
15: 101,848,417 (GRCm39) |
A78V |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,871 (GRCm39) |
F2964S |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,519,808 (GRCm39) |
D125G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,092,637 (GRCm39) |
G234D |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,108,297 (GRCm39) |
V1188A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,473,729 (GRCm39) |
T37A |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,109,095 (GRCm39) |
I135M |
probably benign |
Het |
| Or2a51 |
A |
G |
6: 43,178,991 (GRCm39) |
R138G |
probably benign |
Het |
| Or6c69 |
T |
A |
10: 129,747,404 (GRCm39) |
I248F |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,789,725 (GRCm39) |
Y514C |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,093,986 (GRCm39) |
N165S |
probably damaging |
Het |
| Phf10 |
G |
C |
17: 15,175,366 (GRCm39) |
H157D |
probably damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,792 (GRCm39) |
R708H |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,692 (GRCm39) |
S408P |
unknown |
Het |
| Rab3a |
A |
T |
8: 71,209,804 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rbak |
A |
T |
5: 143,160,172 (GRCm39) |
S294T |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,373,996 (GRCm39) |
D677G |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,228,413 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,735,481 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,327,034 (GRCm39) |
V209A |
unknown |
Het |
| Srp72 |
T |
C |
5: 77,128,274 (GRCm39) |
V165A |
probably benign |
Het |
| Tars3 |
A |
C |
7: 65,333,808 (GRCm39) |
|
probably null |
Het |
| Zfp574 |
G |
A |
7: 24,780,379 (GRCm39) |
G467D |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,722 (GRCm39) |
S117P |
probably benign |
Het |
| Zfp932 |
C |
G |
5: 110,157,787 (GRCm39) |
P495R |
probably damaging |
Het |
|
| Other mutations in Tspan1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00560:Tspan1
|
APN |
4 |
116,020,176 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02622:Tspan1
|
APN |
4 |
116,021,052 (GRCm39) |
splice site |
probably benign |
|
|
R1970:Tspan1
|
UTSW |
4 |
116,020,826 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2112:Tspan1
|
UTSW |
4 |
116,020,885 (GRCm39) |
splice site |
probably null |
|
|
R4022:Tspan1
|
UTSW |
4 |
116,024,232 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4899:Tspan1
|
UTSW |
4 |
116,020,563 (GRCm39) |
nonsense |
probably null |
|
|
R5325:Tspan1
|
UTSW |
4 |
116,021,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5607:Tspan1
|
UTSW |
4 |
116,021,277 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5853:Tspan1
|
UTSW |
4 |
116,020,502 (GRCm39) |
splice site |
probably null |
|
|
R7403:Tspan1
|
UTSW |
4 |
116,020,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7939:Tspan1
|
UTSW |
4 |
116,024,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Tspan1
|
UTSW |
4 |
116,021,532 (GRCm39) |
missense |
probably null |
0.79 |
|
R8432:Tspan1
|
UTSW |
4 |
116,021,151 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8918:Tspan1
|
UTSW |
4 |
116,020,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATTTAGCCCAAAGTCCCTG -3'
(R):5'- CATCTCTGAGGCTTCTCTAGAGG -3'
Sequencing Primer
(F):5'- TATTTAGCCCAAAGTCCCTGAGCAG -3'
(R):5'- CATTTCTGGAGCTGAGGACTCAAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation