Incidental Mutation 'R5905:Tspan17'
ID456549
Institutional Source Beutler Lab
Gene Symbol Tspan17
Ensembl Gene ENSMUSG00000025875
Gene Nametetraspanin 17
Synonyms2210021G21Rik, Fbxo23, Tm4sf17
MMRRC Submission 044102-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5905 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location54789377-54796776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54793298 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 130 (N130S)
Ref Sequence ENSEMBL: ENSMUSP00000097102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026993] [ENSMUST00000099503] [ENSMUST00000110003] [ENSMUST00000130568] [ENSMUST00000131692] [ENSMUST00000132728] [ENSMUST00000163796] [ENSMUST00000163915]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026993
AA Change: N130S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
AA Change: N130S

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 263 6.9e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099503
AA Change: N130S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
AA Change: N130S

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 possibly damaging
Transcript: ENSMUST00000130568
AA Change: N84S

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123607
Gene: ENSMUSG00000025875
AA Change: N84S

DomainStartEndE-ValueType
Pfam:Tetraspannin 3 174 1.2e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131692
AA Change: N130S

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
AA Change: N130S

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 noncoding transcript
Transcript: ENSMUST00000139574
Predicted Effect unknown
Transcript: ENSMUST00000145574
AA Change: N40S
SMART Domains Protein: ENSMUSP00000119687
Gene: ENSMUSG00000025875
AA Change: N40S

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 174 8.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163796
AA Change: N64S

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875
AA Change: N64S

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 193 4.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163915
AA Change: N64S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875
AA Change: N64S

DomainStartEndE-ValueType
Pfam:Tetraspannin 13 143 5e-15 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000171859
AA Change: N90S
SMART Domains Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875
AA Change: N90S

DomainStartEndE-ValueType
Pfam:Tetraspannin 1 79 3.6e-17 PFAM
Pfam:Tetraspannin 78 144 1.5e-13 PFAM
Meta Mutation Damage Score 0.1501 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,479,569 probably null Het
Acat1 A T 9: 53,592,066 Y158N probably damaging Het
Adamtsl1 C A 4: 86,342,324 A924E probably damaging Het
Alad G T 4: 62,510,122 T305K probably benign Het
Als2cl G T 9: 110,898,084 R906L probably damaging Het
Ap3d1 T C 10: 80,722,927 N281S possibly damaging Het
Arf4 A G 14: 26,653,924 T113A probably benign Het
Arhgap8 A T 15: 84,741,977 K84N possibly damaging Het
Asah2 T C 19: 32,016,514 D438G probably damaging Het
Cachd1 C A 4: 100,983,556 N905K probably damaging Het
Catsperb T A 12: 101,602,700 M877K possibly damaging Het
Cc2d2a A T 5: 43,712,426 M890L probably benign Het
Cd180 A T 13: 102,706,033 H529L possibly damaging Het
Cdh23 G T 10: 60,534,535 D160E probably damaging Het
Chd7 C A 4: 8,840,553 N1440K possibly damaging Het
Cntln T A 4: 84,971,173 S298T probably benign Het
Dmap1 G T 4: 117,676,766 T132K probably benign Het
Dnah11 C T 12: 117,954,924 G3424E probably damaging Het
Dnah5 T A 15: 28,387,833 M3146K probably damaging Het
Egfr A T 11: 16,911,494 E1091V probably damaging Het
Eps8l2 T C 7: 141,357,833 F422S possibly damaging Het
F2r A G 13: 95,604,613 V138A possibly damaging Het
Faf1 T A 4: 109,890,929 M477K probably benign Het
Fam149b C T 14: 20,359,910 T235M probably benign Het
Fan1 C A 7: 64,353,651 A808S probably benign Het
Fbxl20 A G 11: 98,115,445 I38T probably damaging Het
Fnbp4 C A 2: 90,751,134 T177K probably benign Het
Gm884 A T 11: 103,614,255 S2296T probably damaging Het
Gm9747 T C 1: 82,234,298 probably benign Het
Grip1 A G 10: 119,985,492 D354G probably benign Het
Grk4 A C 5: 34,711,730 Y189S probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,997,940 probably benign Het
Hgfac A G 5: 35,042,362 N63D probably benign Het
Hk1 C A 10: 62,353,058 K25N probably null Het
Hrc G A 7: 45,336,234 G270S probably damaging Het
Inhba T A 13: 16,017,308 W5R probably benign Het
Lipm T C 19: 34,111,911 S90P probably benign Het
Lman1l A G 9: 57,608,263 I443T probably damaging Het
Lmod3 T A 6: 97,247,614 E415D probably damaging Het
Lrrc63 A G 14: 75,086,174 S537P possibly damaging Het
Map9 T A 3: 82,380,248 probably null Het
Marf1 T A 16: 14,127,249 Q1252L probably damaging Het
Mc3r A T 2: 172,249,209 D117V probably damaging Het
Mepce A G 5: 137,784,720 V448A possibly damaging Het
Mical1 A T 10: 41,486,877 M973L probably benign Het
Mmp21 T C 7: 133,678,714 T176A probably benign Het
Nacc2 A G 2: 26,061,578 V415A probably damaging Het
Neb G A 2: 52,193,231 T1639I probably damaging Het
Nfia A G 4: 98,111,251 H485R possibly damaging Het
Nlrp9a C T 7: 26,558,337 T460I probably benign Het
Olfr1079 T A 2: 86,538,769 I49F possibly damaging Het
Olfr12 T A 1: 92,620,142 C79S possibly damaging Het
Olfr625-ps1 T A 7: 103,683,574 N285K probably damaging Het
Olfr689 T C 7: 105,314,951 Y316H probably benign Het
Olfr763 A T 10: 129,011,287 M1L probably benign Het
Olfr938 T A 9: 39,078,083 I221F probably damaging Het
Otoa T A 7: 121,094,601 L68Q probably damaging Het
Pclo A T 5: 14,680,385 probably benign Het
Pcsk2 T A 2: 143,749,140 Y186N probably damaging Het
Pigz A G 16: 31,945,428 T435A probably benign Het
Pja2 T C 17: 64,309,090 D270G probably benign Het
Polb G T 8: 22,639,995 S187* probably null Het
Popdc3 A G 10: 45,317,919 D272G probably benign Het
Prss36 T C 7: 127,933,572 D716G probably benign Het
Rapgef5 T A 12: 117,748,426 D547E probably damaging Het
Slc4a11 T A 2: 130,685,052 I719F probably damaging Het
Smpd2 A G 10: 41,489,348 W51R probably damaging Het
Snrpb T A 2: 130,179,276 probably benign Het
Sox9 A G 11: 112,783,820 E148G probably damaging Het
Strbp G A 2: 37,625,255 T253I probably damaging Het
Sult1d1 A T 5: 87,559,826 M145K probably damaging Het
Syt17 T C 7: 118,436,918 D74G probably benign Het
Taf5l A C 8: 124,002,975 probably null Het
Tas2r131 T G 6: 132,957,676 I57L probably benign Het
Tcf25 A G 8: 123,381,437 N77S possibly damaging Het
Tmem253 A G 14: 52,017,811 T57A possibly damaging Het
Trrap A G 5: 144,849,920 K3170R possibly damaging Het
Vmn1r216 C T 13: 23,099,197 L17F probably damaging Het
Vmn2r3 T A 3: 64,275,277 T334S probably benign Het
Wnk2 G T 13: 49,076,345 A901E probably damaging Het
Zc3hav1 T C 6: 38,307,340 T947A probably benign Het
Zfhx3 C T 8: 108,793,503 P419L probably damaging Het
Zfp292 A G 4: 34,819,549 S258P probably damaging Het
Zfp354c T C 11: 50,815,426 Y274C probably damaging Het
Zfp652 G A 11: 95,749,863 A205T probably benign Het
Zfp964 A G 8: 69,663,913 T388A unknown Het
Other mutations in Tspan17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02681:Tspan17 APN 13 54789629 missense probably damaging 0.99
R0745:Tspan17 UTSW 13 54789674 missense possibly damaging 0.45
R1128:Tspan17 UTSW 13 54795171 missense probably damaging 1.00
R4738:Tspan17 UTSW 13 54795064 nonsense probably null
R6028:Tspan17 UTSW 13 54793298 missense probably damaging 0.98
R6389:Tspan17 UTSW 13 54795616 splice site probably null
R6919:Tspan17 UTSW 13 54796033 missense probably damaging 1.00
R7050:Tspan17 UTSW 13 54796063 missense probably benign 0.39
R7346:Tspan17 UTSW 13 54792621 missense probably benign 0.01
R7408:Tspan17 UTSW 13 54789653 missense probably benign 0.15
R7429:Tspan17 UTSW 13 54795972 missense probably benign 0.03
R7430:Tspan17 UTSW 13 54795972 missense probably benign 0.03
Z1177:Tspan17 UTSW 13 54792778 frame shift probably null
Z1177:Tspan17 UTSW 13 54796221 makesense probably null
Predicted Primers PCR Primer
(F):5'- AAGCTCAGTGGTAGCCTAGC -3'
(R):5'- AAGGTTCCTTCCCTGGCATC -3'

Sequencing Primer
(F):5'- TGGAGCCTGAAGCCTGTG -3'
(R):5'- TTCCCTGGCATCCGCTGG -3'
Posted On2017-02-15