Incidental Mutation 'IGL01539:Tspan18'
ID |
90100 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tspan18
|
Ensembl Gene |
ENSMUSG00000027217 |
Gene Name |
tetraspanin 18 |
Synonyms |
2610042G18Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01539
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
93032105-93164850 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93041198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 135
(S135P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028646]
[ENSMUST00000111265]
|
AlphaFold |
Q80WR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028646
AA Change: S135P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028646 Gene: ENSMUSG00000027217 AA Change: S135P
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
8 |
247 |
1.8e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111265
AA Change: S135P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106896 Gene: ENSMUSG00000027217 AA Change: S135P
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
8 |
247 |
3.3e-50 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
probably damaging |
Het |
|
Other mutations in Tspan18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02897:Tspan18
|
APN |
2 |
93,050,518 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2513:Tspan18
|
UTSW |
2 |
93,050,440 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3826:Tspan18
|
UTSW |
2 |
93,050,453 (GRCm39) |
missense |
probably benign |
0.00 |
R3827:Tspan18
|
UTSW |
2 |
93,050,453 (GRCm39) |
missense |
probably benign |
0.00 |
R3830:Tspan18
|
UTSW |
2 |
93,050,453 (GRCm39) |
missense |
probably benign |
0.00 |
R4114:Tspan18
|
UTSW |
2 |
93,142,291 (GRCm39) |
critical splice donor site |
probably null |
|
R4697:Tspan18
|
UTSW |
2 |
93,142,375 (GRCm39) |
splice site |
probably null |
|
R5468:Tspan18
|
UTSW |
2 |
93,040,207 (GRCm39) |
missense |
probably benign |
|
R6358:Tspan18
|
UTSW |
2 |
93,040,219 (GRCm39) |
missense |
probably benign |
0.17 |
R6707:Tspan18
|
UTSW |
2 |
93,040,302 (GRCm39) |
missense |
probably benign |
0.27 |
R7389:Tspan18
|
UTSW |
2 |
93,040,272 (GRCm39) |
missense |
probably benign |
0.05 |
R7942:Tspan18
|
UTSW |
2 |
93,041,203 (GRCm39) |
missense |
probably benign |
0.01 |
R7955:Tspan18
|
UTSW |
2 |
93,040,305 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8155:Tspan18
|
UTSW |
2 |
93,040,357 (GRCm39) |
splice site |
probably null |
|
R9255:Tspan18
|
UTSW |
2 |
93,040,200 (GRCm39) |
missense |
probably benign |
|
R9328:Tspan18
|
UTSW |
2 |
93,036,065 (GRCm39) |
missense |
probably benign |
0.12 |
R9510:Tspan18
|
UTSW |
2 |
93,050,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |