Incidental Mutation 'R1128:Tspan17'
ID 96421
Institutional Source Beutler Lab
Gene Symbol Tspan17
Ensembl Gene ENSMUSG00000025875
Gene Name tetraspanin 17
Synonyms 2210021G21Rik, Tm4sf17, Fbxo23
MMRRC Submission 039201-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1128 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54937190-54944589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54942984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 146 (D146G)
Ref Sequence ENSEMBL: ENSMUSP00000123607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000130568] [ENSMUST00000131692] [ENSMUST00000163796] [ENSMUST00000163915]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026993
AA Change: D192G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
AA Change: D192G

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 263 6.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099503
AA Change: D192G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
AA Change: D192G

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 266 1.3e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130568
AA Change: D146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123607
Gene: ENSMUSG00000025875
AA Change: D146G

DomainStartEndE-ValueType
Pfam:Tetraspannin 3 174 1.2e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131692
AA Change: D192G

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
AA Change: D192G

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 263 8.9e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139574
Predicted Effect unknown
Transcript: ENSMUST00000145574
AA Change: D102G
SMART Domains Protein: ENSMUSP00000119687
Gene: ENSMUSG00000025875
AA Change: D102G

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 174 8.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163796
AA Change: D126G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875
AA Change: D126G

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 193 4.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163915
SMART Domains Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 143 5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171859
SMART Domains Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 79 3.6e-17 PFAM
Pfam:Tetraspannin 78 144 1.5e-13 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Amhr2 A T 15: 102,361,256 (GRCm39) Q402L probably benign Het
Brip1 A T 11: 85,955,763 (GRCm39) L917M possibly damaging Het
Dennd5a G A 7: 109,520,541 (GRCm39) R415* probably null Het
Eif2ak1 G T 5: 143,835,994 (GRCm39) probably null Het
Golga4 G A 9: 118,377,852 (GRCm39) A458T probably benign Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Ift88 C T 14: 57,754,476 (GRCm39) R762* probably null Het
Kansl2 A T 15: 98,431,566 (GRCm39) C28* probably null Het
Lct T C 1: 128,229,046 (GRCm39) R816G probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Obscn T C 11: 58,919,769 (GRCm39) N6809S probably null Het
Pak6 A G 2: 118,526,990 (GRCm39) T662A probably benign Het
Pglyrp3 T C 3: 91,935,479 (GRCm39) F243S probably benign Het
Rab44 T C 17: 29,359,435 (GRCm39) V541A possibly damaging Het
Slc39a6 G T 18: 24,718,349 (GRCm39) H569Q probably damaging Het
Slc4a7 T C 14: 14,733,832 (GRCm38) S87P probably damaging Het
Spocd1 T C 4: 129,850,599 (GRCm39) V875A possibly damaging Het
Other mutations in Tspan17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02681:Tspan17 APN 13 54,937,442 (GRCm39) missense probably damaging 0.99
R0745:Tspan17 UTSW 13 54,937,487 (GRCm39) missense possibly damaging 0.45
R4738:Tspan17 UTSW 13 54,942,877 (GRCm39) nonsense probably null
R5905:Tspan17 UTSW 13 54,941,111 (GRCm39) missense probably damaging 0.98
R6028:Tspan17 UTSW 13 54,941,111 (GRCm39) missense probably damaging 0.98
R6389:Tspan17 UTSW 13 54,943,429 (GRCm39) splice site probably null
R6919:Tspan17 UTSW 13 54,943,846 (GRCm39) missense probably damaging 1.00
R7050:Tspan17 UTSW 13 54,943,876 (GRCm39) missense probably benign 0.39
R7346:Tspan17 UTSW 13 54,940,434 (GRCm39) missense probably benign 0.01
R7408:Tspan17 UTSW 13 54,937,466 (GRCm39) missense probably benign 0.15
R7429:Tspan17 UTSW 13 54,943,785 (GRCm39) missense probably benign 0.03
R7430:Tspan17 UTSW 13 54,943,785 (GRCm39) missense probably benign 0.03
R9039:Tspan17 UTSW 13 54,943,991 (GRCm39) nonsense probably null
R9803:Tspan17 UTSW 13 54,941,092 (GRCm39) missense probably benign 0.06
Z1177:Tspan17 UTSW 13 54,944,034 (GRCm39) makesense probably null
Z1177:Tspan17 UTSW 13 54,940,591 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAGTGAGTCTGAAATGCCTCGATCC -3'
(R):5'- CTAGTGCCCCTCCTTCACAGAAAAG -3'

Sequencing Primer
(F):5'- ccagccagccagccTTC -3'
(R):5'- TCCTTCACAGAAAAGCAAACGG -3'
Posted On 2014-01-05