Incidental Mutation 'R9033:Tspan31'
ID 711134
Institutional Source Beutler Lab
Gene Symbol Tspan31
Ensembl Gene ENSMUSG00000006736
Gene Name tetraspanin 31
Synonyms Tspan31, Sas, 2700085A14Rik
MMRRC Submission 068862-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R9033 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 126903149-126906133 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 126904349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]
AlphaFold Q9CQ88
Predicted Effect probably benign
Transcript: ENSMUST00000006911
SMART Domains Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
S_TKc 6 295 9.2e-96 SMART
Predicted Effect silent
Transcript: ENSMUST00000060991
SMART Domains Protein: ENSMUSP00000057751
Gene: ENSMUSG00000006736

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 200 1.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120226
SMART Domains Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
Pfam:Pkinase 6 103 6e-10 PFAM
low complexity region 121 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125682
SMART Domains Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
S_TKc 6 261 5.19e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133115
SMART Domains Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
S_TKc 6 250 1.55e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142558
SMART Domains Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
Pfam:Pkinase 6 74 1.6e-8 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (30/32)
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. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,808,934 (GRCm39) G87D unknown Het
Actg1 T C 11: 120,237,826 (GRCm39) K238R probably benign Het
Arhgef10l G A 4: 140,321,463 (GRCm39) R115C probably damaging Het
Aspm T C 1: 139,405,865 (GRCm39) F1584S probably damaging Het
Atp2b4 C T 1: 133,634,725 (GRCm39) R1168H probably benign Het
Catsper1 G A 19: 5,387,864 (GRCm39) probably null Het
Chgb A C 2: 132,634,914 (GRCm39) K285N probably damaging Het
Csnk1g1 A G 9: 65,915,070 (GRCm39) Y243C probably damaging Het
Dpysl5 G T 5: 30,948,941 (GRCm39) D399Y probably damaging Het
Enam A G 5: 88,646,475 (GRCm39) R259G probably benign Het
Foxf2 C T 13: 31,810,085 (GRCm39) P8L unknown Het
Fpr1 C T 17: 18,097,691 (GRCm39) W99* probably null Het
Itprid2 A G 2: 79,465,938 (GRCm39) S19G probably damaging Het
Kansl1 A G 11: 104,248,356 (GRCm39) S533P probably benign Het
Klhl25 T A 7: 75,516,681 (GRCm39) M529K probably damaging Het
Mtss2 G A 8: 111,465,651 (GRCm39) R697H probably damaging Het
Nup210l G A 3: 90,105,396 (GRCm39) V1515I probably benign Het
Pcdh15 T C 10: 74,302,138 (GRCm39) F926L probably damaging Het
Pfkfb2 T A 1: 130,626,475 (GRCm39) K433* probably null Het
Pirb G C 7: 3,720,584 (GRCm39) Q305E probably benign Het
Pld5 T C 1: 175,967,585 (GRCm39) D90G probably damaging Het
Rergl T C 6: 139,471,900 (GRCm39) Y83C probably damaging Het
Rorb G A 19: 18,965,422 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Shank2 A G 7: 143,965,236 (GRCm39) Q948R probably damaging Het
Slc4a5 C T 6: 83,237,457 (GRCm39) R147* probably null Het
Tdpoz6 T C 3: 93,600,168 (GRCm39) Y67C probably damaging Het
Tdrd7 G T 4: 46,007,468 (GRCm39) D507Y probably damaging Het
Usp40 T C 1: 87,923,499 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,606,414 (GRCm39) Y311N probably benign Het
Zbtb11 T A 16: 55,818,492 (GRCm39) S639T probably benign Het
Zfp52 T C 17: 21,780,655 (GRCm39) F168L possibly damaging Het
Other mutations in Tspan31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02926:Tspan31 APN 10 126,904,778 (GRCm39) splice site probably null
R0989:Tspan31 UTSW 10 126,904,196 (GRCm39) missense probably damaging 0.97
R1848:Tspan31 UTSW 10 126,905,327 (GRCm39) missense probably damaging 1.00
R2104:Tspan31 UTSW 10 126,904,004 (GRCm39) missense probably damaging 1.00
R2327:Tspan31 UTSW 10 126,904,365 (GRCm39) missense probably benign 0.02
R3424:Tspan31 UTSW 10 126,904,371 (GRCm39) missense probably benign
R6450:Tspan31 UTSW 10 126,904,227 (GRCm39) missense probably damaging 1.00
R7204:Tspan31 UTSW 10 126,903,987 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- ACACCTCCTAGGATCTTGAGG -3'
(R):5'- TGGAGACTCCTGAACCGAAG -3'

Sequencing Primer
(F):5'- GGCTTTGTCTGAATGTTTAAGGAACC -3'
(R):5'- GGGTATGTGAGGAGACTAATGTC -3'
Posted On 2022-05-13