Incidental Mutation 'R6403:Tspan13'
ID 516228
Institutional Source Beutler Lab
Gene Symbol Tspan13
Ensembl Gene ENSMUSG00000020577
Gene Name tetraspanin 13
Synonyms 1100001I23Rik, Tm4sf13
MMRRC Submission 044382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 36064554-36092477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36065704 bp (GRCm39)
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

DomainStartEndE-ValueType
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
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Aox1 A G 1: 58,107,594 (GRCm39) I623V probably damaging Het
Camsap2 G A 1: 136,208,538 (GRCm39) R317* probably null Het
Carmil1 G A 13: 24,265,950 (GRCm39) R271C probably damaging Het
Ces2b T A 8: 105,562,901 (GRCm39) L323* probably null Het
Copb1 T A 7: 113,837,686 (GRCm39) I286F probably damaging Het
Dnajb11 T A 16: 22,689,691 (GRCm39) V285D probably damaging Het
Dok5 G T 2: 170,671,820 (GRCm39) A79S probably damaging Het
Enpp2 T C 15: 54,727,160 (GRCm39) N557S probably damaging Het
Hexa G A 9: 59,464,644 (GRCm39) R178H probably damaging Het
Iars1 T C 13: 49,840,971 (GRCm39) S35P probably damaging Het
Il3ra G T 14: 14,347,137 (GRCm38) A3S probably damaging Het
Iqcm T C 8: 76,304,624 (GRCm39) probably null Het
Krt9 G T 11: 100,080,485 (GRCm39) S420R probably damaging Het
Lca5l T C 16: 95,975,045 (GRCm39) N293S probably benign Het
Mb21d2 A G 16: 28,647,269 (GRCm39) I235T possibly damaging Het
Ncbp3 A G 11: 72,969,802 (GRCm39) T550A probably benign Het
Nckipsd G T 9: 108,688,882 (GRCm39) R139L possibly damaging Het
Nxn A G 11: 76,289,846 (GRCm39) V14A probably benign Het
Or8d2b T C 9: 38,788,538 (GRCm39) L22P probably damaging Het
Pramel22 G A 4: 143,382,343 (GRCm39) Q118* probably null Het
Rprd2 C A 3: 95,673,399 (GRCm39) C668F possibly damaging Het
Tmem87a A T 2: 120,211,252 (GRCm39) M231K possibly damaging Het
Trappc8 A G 18: 20,999,128 (GRCm39) V333A probably benign Het
Trit1 C A 4: 122,933,372 (GRCm39) T103K possibly damaging Het
Vmn2r114 C T 17: 23,528,939 (GRCm39) D388N probably damaging Het
Zfp617 C T 8: 72,683,015 (GRCm39) A55V probably benign Het
Other mutations in Tspan13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1875:Tspan13 UTSW 12 36,070,550 (GRCm39) splice site probably null
R2097:Tspan13 UTSW 12 36,071,829 (GRCm39) missense probably benign 0.22
R5149:Tspan13 UTSW 12 36,074,065 (GRCm39) missense probably damaging 1.00
R9722:Tspan13 UTSW 12 36,074,017 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATTACAGGGACCACTGAGGG -3'
(R):5'- ATCTTGTCTTTGCACACAAACC -3'

Sequencing Primer
(F):5'- GAATATGGGGAACTTCGATTGC -3'
(R):5'- CCAAGCAAAAGGAACTCAGAAG -3'
Posted On 2018-05-04