Incidental Mutation 'R8140:Tspan9'
ID 632475
Institutional Source Beutler Lab
Gene Symbol Tspan9
Ensembl Gene ENSMUSG00000030352
Gene Name tetraspanin 9
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock # R8140 (G1)
Quality Score 181.009
Status Validated
Chromosome 6
Chromosomal Location 127961396-128143594 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127965278 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 203 (H203R)
Ref Sequence ENSEMBL: ENSMUSP00000032503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032503] [ENSMUST00000112171] [ENSMUST00000112173] [ENSMUST00000123786] [ENSMUST00000127105] [ENSMUST00000145940] [ENSMUST00000146268] [ENSMUST00000154375] [ENSMUST00000202372]
AlphaFold Q8BJU2
Predicted Effect probably damaging
Transcript: ENSMUST00000032503
AA Change: H203R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352
AA Change: H203R

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112171
AA Change: H203R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352
AA Change: H203R

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112173
AA Change: H203R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352
AA Change: H203R

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 230 1.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123786
SMART Domains Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 171 2.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127105
SMART Domains Protein: ENSMUSP00000115324
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 57 5.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145940
Predicted Effect probably benign
Transcript: ENSMUST00000146268
SMART Domains Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 122 2.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154375
SMART Domains Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 127 3.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202372
SMART Domains Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 161 1.5e-40 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 93.9%
Validation Efficiency 97% (64/66)
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. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,611 V230E possibly damaging Het
Amotl1 G A 9: 14,572,715 probably null Het
Atp7b C A 8: 22,028,560 E87D probably damaging Het
Bcat2 C T 7: 45,588,351 P347L probably damaging Het
Brox A T 1: 183,293,873 probably null Het
Cd37 A G 7: 45,238,535 I58T probably damaging Het
Cep295 A T 9: 15,341,533 M333K probably benign Het
Chtop A G 3: 90,505,393 probably null Het
Cpa2 A T 6: 30,544,905 K54N probably benign Het
Cpa6 A G 1: 10,325,294 S383P probably damaging Het
Dnah7a A T 1: 53,501,589 I2542N probably benign Het
Eif5b G A 1: 38,051,276 V1179I probably benign Het
Erbin T C 13: 103,920,294 probably null Het
Fastkd5 A T 2: 130,615,250 D473E possibly damaging Het
Fchsd1 T C 18: 37,964,342 E372G probably damaging Het
Fgl1 T C 8: 41,200,609 probably null Het
Fzd8 T G 18: 9,213,797 V293G probably damaging Het
Gm4787 T A 12: 81,378,151 H411L probably benign Het
Gm49380 G T 9: 44,111,972 D326E probably benign Het
Hcrtr1 G A 4: 130,135,290 R240C probably damaging Het
Hdac5 A T 11: 102,197,355 Y948N probably damaging Het
Hepacam A G 9: 37,383,871 S301G probably benign Het
Htra4 A T 8: 25,030,558 D362E possibly damaging Het
Ighv1-9 G A 12: 114,583,741 P60L probably damaging Het
Kcnq3 A G 15: 65,995,541 I751T probably damaging Het
Magi3 T C 3: 104,034,086 Y851C probably damaging Het
Mefv A G 16: 3,713,635 S470P probably benign Het
Mfsd2a C T 4: 122,949,298 V397I probably benign Het
Mroh1 C A 15: 76,433,873 H867N probably benign Het
Mthfd1l C T 10: 4,007,745 R261* probably null Het
Myo3a A G 2: 22,407,346 I725M probably damaging Het
Neb T C 2: 52,209,540 D4766G possibly damaging Het
Nek11 G T 9: 105,392,957 P22Q probably damaging Het
Olfr1179 T C 2: 88,402,113 T274A possibly damaging Het
Olfr1497 A T 19: 13,795,239 V124E possibly damaging Het
Olfr178 T C 16: 58,889,585 T212A probably benign Het
Peg10 C G 6: 4,756,113 Q230E unknown Het
Pipox T C 11: 77,883,909 D116G probably benign Het
Pkd1l2 C T 8: 117,047,497 R993H probably benign Het
Pkdrej A C 15: 85,818,410 N1108K probably damaging Het
Polr2a C T 11: 69,746,376 R291Q probably benign Het
Pomt1 T A 2: 32,244,297 Y277N probably damaging Het
Rasal2 A G 1: 157,299,235 S78P probably damaging Het
Rgl1 A T 1: 152,557,501 L171Q probably damaging Het
Sfta2 A G 17: 35,601,774 E14G unknown Het
Sh3rf3 T A 10: 59,049,355 S353R possibly damaging Het
Slc37a1 A T 17: 31,322,259 I242F probably damaging Het
Srfbp1 T A 18: 52,488,690 D274E probably damaging Het
Syne2 T A 12: 75,912,353 S685R possibly damaging Het
Tenm4 A C 7: 96,895,176 D2170A probably damaging Het
Tnr A G 1: 159,863,695 T472A probably damaging Het
Ttn T C 2: 76,771,651 T18556A possibly damaging Het
Usp25 T A 16: 77,071,681 Y323* probably null Het
Usp31 G T 7: 121,649,026 R1065S possibly damaging Het
Vmn2r103 A T 17: 19,811,796 T611S probably damaging Het
Wdfy4 A G 14: 33,142,360 V552A Het
Zap70 G T 1: 36,771,181 R124L possibly damaging Het
Zfand6 A T 7: 84,632,749 S91T possibly damaging Het
Other mutations in Tspan9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tspan9 APN 6 127964438 missense probably benign 0.03
IGL02551:Tspan9 APN 6 127965763 missense probably null 1.00
IGL03277:Tspan9 APN 6 127967075 splice site probably null
R0078:Tspan9 UTSW 6 127966485 critical splice acceptor site probably null
R0717:Tspan9 UTSW 6 127966380 critical splice donor site probably null
R3978:Tspan9 UTSW 6 127967247 missense probably damaging 1.00
R4060:Tspan9 UTSW 6 128034172 missense probably benign 0.03
R6944:Tspan9 UTSW 6 127965806 missense probably benign 0.31
R7111:Tspan9 UTSW 6 127965763 missense probably null 1.00
R7524:Tspan9 UTSW 6 127965251 missense probably benign 0.22
R9063:Tspan9 UTSW 6 127967109 missense probably damaging 1.00
R9159:Tspan9 UTSW 6 127966754 missense possibly damaging 0.83
R9367:Tspan9 UTSW 6 127967139 missense probably damaging 1.00
R9405:Tspan9 UTSW 6 127967161 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACATGTCACCTGTAAAGCTGG -3'
(R):5'- GCCTAAGGGTAGTAACGGAC -3'

Sequencing Primer
(F):5'- AACACCTTTAGCTCTCATGCGGAG -3'
(R):5'- CTAAGGGTAGTAACGGACTAGAATTC -3'
Posted On 2020-06-30