Incidental Mutation 'R4132:Tspan5'
ID 314698
Institutional Source Beutler Lab
Gene Symbol Tspan5
Ensembl Gene ENSMUSG00000028152
Gene Name tetraspanin 5
Synonyms NET-4, 4930505M03Rik, Tm4sf9, 2810455A09Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.517) question?
Stock # R4132 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 138447609-138610194 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 138602628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 106 (R106*)
Ref Sequence ENSEMBL: ENSMUSP00000114663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029800] [ENSMUST00000119993] [ENSMUST00000121826] [ENSMUST00000127772] [ENSMUST00000135629] [ENSMUST00000142001] [ENSMUST00000142890] [ENSMUST00000146356] [ENSMUST00000153336]
AlphaFold P62080
Predicted Effect probably null
Transcript: ENSMUST00000029800
AA Change: R177*
SMART Domains Protein: ENSMUSP00000029800
Gene: ENSMUSG00000028152
AA Change: R177*

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 261 4.4e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119993
AA Change: R106*
SMART Domains Protein: ENSMUSP00000113230
Gene: ENSMUSG00000028152
AA Change: R106*

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 190 1e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000121826
AA Change: R106*
SMART Domains Protein: ENSMUSP00000113359
Gene: ENSMUSG00000028152
AA Change: R106*

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 null
Transcript: ENSMUST00000146356
AA Change: R106*
SMART Domains Protein: ENSMUSP00000114663
Gene: ENSMUSG00000028152
AA Change: R106*

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy1 T C 1: 92,812,822 (GRCm39) M496V probably benign Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Cmklr1 C A 5: 113,752,545 (GRCm39) R152L probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Gm1527 A T 3: 28,974,779 (GRCm39) I531L probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Heca A G 10: 17,777,987 (GRCm39) S537P probably damaging Het
Icam5 T C 9: 20,947,953 (GRCm39) I617T probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhdc4 C T 8: 122,524,804 (GRCm39) G375R possibly damaging Het
Myo5c G A 9: 75,159,850 (GRCm39) V293I probably benign Het
Ncbp1 C T 4: 46,169,241 (GRCm39) R672* probably null Het
Pcdhga2 T C 18: 37,803,107 (GRCm39) I317T possibly damaging Het
Safb C A 17: 56,907,848 (GRCm39) probably benign Het
Ubap2l A G 3: 89,916,491 (GRCm39) Y908H probably damaging Het
Uspl1 A G 5: 149,141,159 (GRCm39) N372S probably damaging Het
Vmn1r210 T C 13: 23,011,819 (GRCm39) I156V probably benign Het
Zbtb8os A G 4: 129,229,906 (GRCm39) Y24C probably damaging Het
Other mutations in Tspan5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Tspan5 APN 3 138,596,517 (GRCm39) missense probably damaging 1.00
R0144:Tspan5 UTSW 3 138,604,109 (GRCm39) missense probably damaging 0.99
R0736:Tspan5 UTSW 3 138,574,159 (GRCm39) critical splice donor site probably null
R1546:Tspan5 UTSW 3 138,604,102 (GRCm39) missense probably damaging 1.00
R1601:Tspan5 UTSW 3 138,602,596 (GRCm39) missense probably damaging 1.00
R1734:Tspan5 UTSW 3 138,603,901 (GRCm39) missense probably damaging 1.00
R2327:Tspan5 UTSW 3 138,603,903 (GRCm39) nonsense probably null
R3037:Tspan5 UTSW 3 138,604,116 (GRCm39) missense probably damaging 1.00
R4648:Tspan5 UTSW 3 138,604,076 (GRCm39) missense probably damaging 1.00
R7356:Tspan5 UTSW 3 138,448,193 (GRCm39) unclassified probably benign
R7444:Tspan5 UTSW 3 138,603,883 (GRCm39) missense possibly damaging 0.82
Z1088:Tspan5 UTSW 3 138,604,087 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- ACTAAATGTTGAGGCCCCG -3'
(R):5'- TGCCATCCTGTCCTGACTAG -3'

Sequencing Primer
(F):5'- TTGAGGCCCCGGACCTG -3'
(R):5'- CTGACTAGGAACACTGGAGCGTATC -3'
Posted On 2015-05-14