Incidental Mutation 'R6403:Tspan13'
ID 516228
Institutional Source Beutler Lab
Gene Symbol Tspan13
Ensembl Gene ENSMUSG00000020577
Gene Name tetraspanin 13
Synonyms Tm4sf13, 1100001I23Rik
MMRRC Submission 044382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R6403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 36014557-36042500 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36015705 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 203 (F203S)
Ref Sequence ENSEMBL: ENSMUSP00000020896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020896]
AlphaFold Q9D8C2
Predicted Effect probably damaging
Transcript: ENSMUST00000020896
AA Change: F203S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020896
Gene: ENSMUSG00000020577
AA Change: F203S

Pfam:Tetraspannin 8 194 3.1e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,042,249 D227G possibly damaging Het
Aox1 A G 1: 58,068,435 I623V probably damaging Het
Camsap2 G A 1: 136,280,800 R317* probably null Het
Carmil1 G A 13: 24,081,967 R271C probably damaging Het
Ces2b T A 8: 104,836,269 L323* probably null Het
Copb1 T A 7: 114,238,451 I286F probably damaging Het
Dnajb11 T A 16: 22,870,941 V285D probably damaging Het
Dok5 G T 2: 170,829,900 A79S probably damaging Het
Enpp2 T C 15: 54,863,764 N557S probably damaging Het
Gm13088 G A 4: 143,655,773 Q118* probably null Het
Hexa G A 9: 59,557,361 R178H probably damaging Het
Iars T C 13: 49,687,495 S35P probably damaging Het
Il3ra G T 14: 14,347,137 A3S probably damaging Het
Iqcm T C 8: 75,577,996 probably null Het
Krt9 G T 11: 100,189,659 S420R probably damaging Het
Lca5l T C 16: 96,173,845 N293S probably benign Het
Mb21d2 A G 16: 28,828,517 I235T possibly damaging Het
Ncbp3 A G 11: 73,078,976 T550A probably benign Het
Nckipsd G T 9: 108,811,683 R139L possibly damaging Het
Nxn A G 11: 76,399,020 V14A probably benign Het
Olfr926 T C 9: 38,877,242 L22P probably damaging Het
Rprd2 C A 3: 95,766,087 C668F possibly damaging Het
Tmem87a A T 2: 120,380,771 M231K possibly damaging Het
Trappc8 A G 18: 20,866,071 V333A probably benign Het
Trit1 C A 4: 123,039,579 T103K possibly damaging Het
Vmn2r114 C T 17: 23,309,965 D388N probably damaging Het
Zfp617 C T 8: 71,929,171 A55V probably benign Het
Other mutations in Tspan13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1875:Tspan13 UTSW 12 36020551 splice site probably null
R2097:Tspan13 UTSW 12 36021830 missense probably benign 0.22
R5149:Tspan13 UTSW 12 36024066 missense probably damaging 1.00
R9722:Tspan13 UTSW 12 36024018 missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-04