Incidental Mutation 'R9803:Tspan17'
ID 735331
Institutional Source Beutler Lab
Gene Symbol Tspan17
Ensembl Gene ENSMUSG00000025875
Gene Name tetraspanin 17
Synonyms 2210021G21Rik, Tm4sf17, Fbxo23
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9803 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54937190-54944589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54941092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 124 (Q124K)
Ref Sequence ENSEMBL: ENSMUSP00000115287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000110003] [ENSMUST00000130568] [ENSMUST00000131692] [ENSMUST00000132728] [ENSMUST00000163796] [ENSMUST00000163915]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026993
AA Change: Q124K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
AA Change: Q124K

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 263 6.9e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099503
AA Change: Q124K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
AA Change: Q124K

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 266 1.3e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110003
SMART Domains Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 227 2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130568
AA Change: Q78K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123607
Gene: ENSMUSG00000025875
AA Change: Q78K

DomainStartEndE-ValueType
Pfam:Tetraspannin 3 174 1.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131692
AA Change: Q124K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
AA Change: Q124K

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 263 8.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132728
SMART Domains Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:IF4E 66 228 4.9e-56 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000119687
Gene: ENSMUSG00000025875
AA Change: Q34K

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 174 8.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163796
AA Change: Q58K

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875
AA Change: Q58K

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 193 4.3e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163915
AA Change: Q58K

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875
AA Change: Q58K

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 143 5e-15 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875
AA Change: Q84K

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 79 3.6e-17 PFAM
Pfam:Tetraspannin 78 144 1.5e-13 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik A G 5: 113,841,964 (GRCm39) S52P unknown Het
Ank2 A G 3: 126,752,726 (GRCm39) M330T possibly damaging Het
Ankar C T 1: 72,698,340 (GRCm39) V905I possibly damaging Het
Anln G T 9: 22,283,518 (GRCm39) D438E probably damaging Het
C1ql3 T C 2: 13,009,200 (GRCm39) N215S probably damaging Het
Ccdc110 A G 8: 46,395,626 (GRCm39) S506G probably benign Het
Ccdc87 A G 19: 4,891,175 (GRCm39) T556A probably benign Het
Cma1 A T 14: 56,179,186 (GRCm39) N236K probably benign Het
Csmd2 T C 4: 128,262,986 (GRCm39) F724S Het
Cts8 T C 13: 61,401,136 (GRCm39) K130R possibly damaging Het
Daam1 A T 12: 71,990,922 (GRCm39) T179S unknown Het
Fancd2os T C 6: 113,574,938 (GRCm39) T23A possibly damaging Het
Gbgt1 T A 2: 28,394,866 (GRCm39) I168N probably damaging Het
Gckr G A 5: 31,457,368 (GRCm39) G127D probably damaging Het
Gm11444 G A 11: 85,737,699 (GRCm39) Q164* probably null Het
Gm28042 T A 2: 119,868,984 (GRCm39) V526E possibly damaging Het
Gm8947 T C 1: 151,068,722 (GRCm39) V185A possibly damaging Het
Hoxd13 C A 2: 74,499,247 (GRCm39) H198Q possibly damaging Het
Hps6 T A 19: 45,993,947 (GRCm39) L628* probably null Het
Igha G A 12: 113,222,759 (GRCm39) H221Y Het
Ighm A G 12: 113,382,635 (GRCm39) S453P Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Lfng A G 5: 140,593,528 (GRCm39) T120A probably damaging Het
Lrrc4 C T 6: 28,662,199 (GRCm39) A172T probably benign Het
Lrrc56 A G 7: 140,787,520 (GRCm39) T386A probably benign Het
Mapkbp1 A T 2: 119,841,256 (GRCm39) H81L probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mrto4 T A 4: 139,076,381 (GRCm39) N70I probably damaging Het
Mxra8 C T 4: 155,924,282 (GRCm39) probably benign Het
Myo1h A G 5: 114,483,997 (GRCm39) E548G Het
Ncan C T 8: 70,560,751 (GRCm39) D739N probably benign Het
Or2t45 T C 11: 58,669,595 (GRCm39) V214A probably benign Het
Oxgr1 T C 14: 120,259,563 (GRCm39) T215A possibly damaging Het
Pcdhgb7 T A 18: 37,885,088 (GRCm39) V86E probably damaging Het
Pclo G A 5: 14,762,629 (GRCm39) V416M Het
Phf3 G T 1: 30,869,872 (GRCm39) T392K probably benign Het
Pkhd1 A T 1: 20,637,073 (GRCm39) V379E probably damaging Het
Ppfia3 T C 7: 44,990,539 (GRCm39) Y1080C probably benign Het
Ptprs C A 17: 56,729,217 (GRCm39) G1254C probably damaging Het
Qsox1 A T 1: 155,658,416 (GRCm39) D384E probably benign Het
Rergl A G 6: 139,477,761 (GRCm39) F23L probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Sidt2 A G 9: 45,854,912 (GRCm39) Y588H probably damaging Het
Tas2r139 T A 6: 42,118,066 (GRCm39) I66K probably damaging Het
Tbc1d30 T A 10: 121,107,980 (GRCm39) D474V probably damaging Het
Tenm4 G A 7: 96,202,685 (GRCm39) G100D probably damaging Het
Tmem258 G A 19: 10,184,637 (GRCm39) V75I probably benign Het
Tmem91 G T 7: 25,369,988 (GRCm39) H95N probably damaging Het
Trps1 T C 15: 50,710,090 (GRCm39) K87E possibly damaging Het
Tspan11 T A 6: 127,920,680 (GRCm39) M209K probably benign Het
Uts2b G A 16: 27,179,692 (GRCm39) R105* probably null Het
Vmn2r110 T A 17: 20,803,730 (GRCm39) T282S probably benign Het
Xdh T A 17: 74,229,455 (GRCm39) M333L probably benign Het
Zbtb3 A G 19: 8,781,833 (GRCm39) E482G probably 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
R1128:Tspan17 UTSW 13 54,942,984 (GRCm39) missense probably damaging 1.00
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
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'- AAGCTCAGTGGTAGCCTAGCAG -3'
(R):5'- AAGGTTCCTTCCCTGGCATC -3'

Sequencing Primer
(F):5'- TGGAGCCTGAAGCCTGTG -3'
(R):5'- GCCTGGGTGGGTTAGGAAAC -3'
Posted On 2022-11-14