Incidental Mutation 'R1734:Tspan5'
ID199555
Institutional Source Beutler Lab
Gene Symbol Tspan5
Ensembl Gene ENSMUSG00000028152
Gene Nametetraspanin 5
Synonyms4930505M03Rik, 2810455A09Rik, NET-4, Tm4sf9
MMRRC Submission 039766-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #R1734 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location138742195-138907905 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138898140 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 131 (Y131H)
Ref Sequence ENSEMBL: ENSMUSP00000113359 (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: Y202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152
AA Change: Y202H

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 261 4.4e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119993
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152
AA Change: Y131H

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 190 1e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121826
AA Change: Y131H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152
AA Change: Y131H

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 silent
Transcript: ENSMUST00000142001
SMART Domains Protein: ENSMUSP00000117857
Gene: ENSMUSG00000028152

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 80 1.7e-16 PFAM
Predicted Effect silent
Transcript: ENSMUST00000142890
SMART Domains Protein: ENSMUSP00000120969
Gene: ENSMUSG00000028152

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
Meta Mutation Damage Score 0.066 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,585,460 C4695R probably benign Het
Actr10 T A 12: 70,961,996 V401E probably benign Het
Adamts16 G A 13: 70,779,518 probably benign Het
Aimp1 A T 3: 132,674,796 I59K probably damaging Het
Alms1 T A 6: 85,641,550 probably null Het
Anln A T 9: 22,350,955 S947T possibly damaging Het
Atp2c1 T C 9: 105,414,655 T733A probably damaging Het
BC049715 C T 6: 136,840,308 P182L probably damaging Het
Cblb T C 16: 52,186,240 probably benign Het
Cep295 C T 9: 15,340,883 E397K probably damaging Het
Ces4a G A 8: 105,138,097 G69S probably damaging Het
Chac1 A T 2: 119,353,458 L180F probably damaging Het
Cherp A T 8: 72,470,088 probably null Het
Ckap4 A G 10: 84,527,874 S442P probably benign Het
Clstn3 G A 6: 124,436,814 probably benign Het
Crb2 T A 2: 37,793,656 C1057S probably damaging Het
Dact2 T C 17: 14,196,639 D433G probably benign Het
Dnah6 G A 6: 73,044,761 T3526M probably damaging Het
Ethe1 A G 7: 24,608,384 T210A probably benign Het
Fat2 A G 11: 55,281,371 S2839P probably benign Het
Fbxl7 T C 15: 26,543,649 Y304C probably damaging Het
Gad1-ps A T 10: 99,445,775 noncoding transcript Het
Gm436 A T 4: 144,670,026 C379S probably benign Het
Grm3 C T 5: 9,589,742 R101K probably benign Het
Hspa12b A G 2: 131,138,536 Y125C possibly damaging Het
Il10ra T C 9: 45,255,943 T437A probably benign Het
Jcad T C 18: 4,674,526 F763L probably damaging Het
Map3k10 T C 7: 27,658,115 D746G probably damaging Het
Mettl9 T A 7: 121,047,841 Y57N probably damaging Het
Nav2 G A 7: 49,575,720 E1803K probably damaging Het
Nol11 G A 11: 107,175,623 S447L possibly damaging Het
Olfr294 C T 7: 86,616,217 V143M probably benign Het
Osbpl1a T C 18: 12,788,316 probably null Het
Pde6a A G 18: 61,285,965 N804S probably damaging Het
Pepd A T 7: 35,031,426 D301V probably benign Het
Piwil2 A T 14: 70,426,505 probably null Het
Plec C T 15: 76,186,218 V931M probably damaging Het
Prrc2a A G 17: 35,150,707 S1877P possibly damaging Het
Retreg2 G T 1: 75,142,986 probably null Het
Slc7a11 G A 3: 50,372,346 Q489* probably null Het
Sned1 G A 1: 93,259,768 D256N probably damaging Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Ssfa2 G A 2: 79,657,822 V750M probably damaging Het
Syce2 G A 8: 84,887,147 E168K probably benign Het
Tex37 T A 6: 70,913,661 Q49L probably benign Het
Tmem260 G T 14: 48,509,093 V609L probably benign Het
Trim35 A G 14: 66,309,329 D515G probably damaging Het
Ttbk2 T C 2: 120,755,838 I466V probably benign Het
Ttn T C 2: 76,745,813 D24912G probably damaging Het
Utp20 A T 10: 88,767,461 N1843K probably damaging Het
Vmn1r20 A G 6: 57,432,300 R204G probably damaging Het
Vps18 A T 2: 119,293,942 Q450L probably benign Het
Zbtb4 A G 11: 69,776,463 E198G probably benign Het
Other mutations in Tspan5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Tspan5 APN 3 138890756 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CACTGAGAACTGTGTCATCCTGCC -3'
(R):5'- ACCAGCCACGATGGTTAAATTGTCC -3'

Sequencing Primer
(F):5'- CTGCTCTAGTAAAAGCATGGC -3'
(R):5'- GGTTAAATTGTCCTGTAGCCAC -3'
Posted On2014-05-23