Incidental Mutation 'IGL01603:Tspan5'
ID92183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan5
Ensembl Gene ENSMUSG00000028152
Gene Nametetraspanin 5
Synonyms4930505M03Rik, 2810455A09Rik, NET-4, Tm4sf9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL01603
Quality Score
Status
Chromosome3
Chromosomal Location138742195-138907905 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138890756 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 52 (S52P)
Ref Sequence ENSEMBL: ENSMUSP00000029800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029800] [ENSMUST00000119993] [ENSMUST00000121826] [ENSMUST00000127772] [ENSMUST00000135629] [ENSMUST00000142001] [ENSMUST00000142890] [ENSMUST00000146356] [ENSMUST00000153336]
Predicted Effect probably damaging
Transcript: ENSMUST00000029800
AA Change: S52P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152
AA Change: S52P

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 261 4.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119993
SMART Domains Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 190 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121826
SMART Domains Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 190 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127772
Predicted Effect probably benign
Transcript: ENSMUST00000135629
SMART Domains Protein: ENSMUSP00000120961
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 79 3.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142001
SMART Domains Protein: ENSMUSP00000117857
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 80 1.7e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142890
AA Change: S52P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120969
Gene: ENSMUSG00000028152
AA Change: S52P

DomainStartEndE-ValueType
Pfam:Tetraspannin 14 151 6.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146356
SMART Domains Protein: ENSMUSP00000114663
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 105 2.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153336
SMART Domains Protein: ENSMUSP00000122120
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 30 139 6.7e-22 PFAM
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,345,353 D20V probably damaging Het
Akr1c12 A G 13: 4,272,927 probably null Het
Baiap2l1 C T 5: 144,280,815 probably benign Het
Baz2a T C 10: 128,111,168 F184L probably damaging Het
BC049730 T A 7: 24,712,529 W45R probably damaging Het
Cadps T C 14: 12,454,154 probably benign Het
Cbr4 A T 8: 61,503,211 *237Y probably null Het
Cln3 T G 7: 126,575,354 N275T probably benign Het
Csf1r A G 18: 61,129,301 E823G probably damaging Het
Ctr9 C A 7: 111,049,331 A726D probably damaging Het
Def6 C T 17: 28,219,740 probably benign Het
Dock4 T A 12: 40,693,031 I395N probably damaging Het
Eln T C 5: 134,719,040 probably benign Het
Fasn A T 11: 120,816,065 H920Q probably damaging Het
Glb1l3 A G 9: 26,859,536 I78T probably damaging Het
Gm7275 A T 16: 48,073,579 noncoding transcript Het
Grm5 A C 7: 87,603,178 Y212S probably damaging Het
Gtf2ird2 T C 5: 134,202,288 probably benign Het
Gucy1b1 A G 3: 82,034,868 V528A probably damaging Het
Hspg2 G A 4: 137,552,803 A3168T probably damaging Het
Kcnj6 A G 16: 94,833,199 S18P probably benign Het
Kcnq5 T A 1: 21,505,340 K294I possibly damaging Het
Lama4 G A 10: 39,065,646 G693E possibly damaging Het
Ldb1 A T 19: 46,035,575 I124K probably damaging Het
Lrrfip1 C T 1: 91,115,913 T680I probably benign Het
Map3k19 T A 1: 127,830,273 D186V possibly damaging Het
Mrgprx2 T C 7: 48,482,626 Y148C probably damaging Het
Muc4 G A 16: 32,750,655 A178T probably benign Het
Mylip A C 13: 45,390,003 E16A probably benign Het
Nek9 A G 12: 85,305,605 F828S probably damaging Het
Obscn A G 11: 59,037,805 F6012L probably damaging Het
Olfr1394 A C 11: 49,160,611 D199A probably damaging Het
Olfr298 A G 7: 86,488,931 S207P possibly damaging Het
Olfr474 A G 7: 107,955,373 Y244C possibly damaging Het
Pcid2 T A 8: 13,079,936 K273N possibly damaging Het
Plekhm3 C T 1: 64,921,832 D422N probably damaging Het
Prr12 T C 7: 45,043,485 H1541R probably damaging Het
Psg26 A C 7: 18,475,103 V460G probably damaging Het
Rbmxl1 G A 8: 78,505,830 R295* probably null Het
Sbf1 A T 15: 89,303,278 V690E probably damaging Het
Serpinb2 T A 1: 107,522,180 S108T probably benign Het
Sin3b T C 8: 72,750,064 Y709H probably damaging Het
Slc17a5 A G 9: 78,574,707 W160R probably damaging Het
Spef2 T A 15: 9,704,380 D449V probably damaging Het
Tas2r108 C A 6: 40,493,786 N65K possibly damaging Het
Tex15 T A 8: 33,573,547 F1002I possibly damaging Het
Trpm5 G A 7: 143,075,601 S942L probably benign Het
Uqcrfs1 T C 13: 30,541,198 T120A probably benign Het
Usp6nl T C 2: 6,423,435 F193L probably damaging Het
Vmn2r26 T A 6: 124,053,874 C523S probably damaging Het
Wfdc2 C T 2: 164,564,059 P92S probably benign Het
Zbtb18 A T 1: 177,447,983 H303L probably benign Het
Zfp174 A T 16: 3,854,289 H234L probably benign Het
Zmynd12 T C 4: 119,441,920 probably null Het
Other mutations in Tspan5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0144:Tspan5 UTSW 3 138898348 missense probably damaging 0.99
R0736:Tspan5 UTSW 3 138868398 critical splice donor site probably null
R1546:Tspan5 UTSW 3 138898341 missense probably damaging 1.00
R1601:Tspan5 UTSW 3 138896835 missense probably damaging 1.00
R1734:Tspan5 UTSW 3 138898140 missense probably damaging 1.00
R2327:Tspan5 UTSW 3 138898142 nonsense probably null
R3037:Tspan5 UTSW 3 138898355 missense probably damaging 1.00
R4132:Tspan5 UTSW 3 138896867 nonsense probably null
R4648:Tspan5 UTSW 3 138898315 missense probably damaging 1.00
Z1088:Tspan5 UTSW 3 138898326 missense possibly damaging 0.60
Posted On2013-12-09