Incidental Mutation 'R5964:Snx16'
ID 471928
Institutional Source Beutler Lab
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Name sorting nexin 16
Synonyms 4930522N22Rik
MMRRC Submission 044149-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5964 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 10417817-10440102 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10434481 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 163 (R163Q)
Ref Sequence ENSEMBL: ENSMUSP00000029047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]
AlphaFold Q8C080
Predicted Effect possibly damaging
Transcript: ENSMUST00000029047
AA Change: R163Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: R163Q

low complexity region 27 40 N/A INTRINSIC
PX 110 214 1.65e-17 SMART
coiled coil region 230 272 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000099223
AA Change: R163Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: R163Q

low complexity region 27 40 N/A INTRINSIC
PX 110 214 1.65e-17 SMART
coiled coil region 230 274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195822
SMART Domains Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534

low complexity region 27 40 N/A INTRINSIC
Blast:PX 105 134 2e-6 BLAST
Meta Mutation Damage Score 0.1308 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 96% (87/91)
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 sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,343,567 (GRCm38) Q581* probably null Het
Agl A G 3: 116,793,774 (GRCm38) V44A probably damaging Het
Alpk3 T A 7: 81,092,260 (GRCm38) D608E possibly damaging Het
Aspm C A 1: 139,455,227 (GRCm38) probably benign Het
Bbs2 T C 8: 94,068,367 (GRCm38) N692S probably benign Het
Bend4 A G 5: 67,417,818 (GRCm38) I240T probably benign Het
Casp8 G T 1: 58,833,736 (GRCm38) R277L possibly damaging Het
Ccdc61 A T 7: 18,900,940 (GRCm38) I123N probably damaging Het
Ccr9 T G 9: 123,779,434 (GRCm38) I60M probably benign Het
Cd163 T A 6: 124,326,572 (GRCm38) W1066R probably benign Het
Cd226 A T 18: 89,207,183 (GRCm38) H68L probably benign Het
Cdkn3 T A 14: 46,767,217 (GRCm38) C79S probably null Het
Cnnm1 A T 19: 43,469,723 (GRCm38) E658V probably benign Het
Cog7 T C 7: 121,956,029 (GRCm38) R304G probably damaging Het
Cpt1a T A 19: 3,365,760 (GRCm38) V286E possibly damaging Het
Creg2 C A 1: 39,624,954 (GRCm38) R212L probably benign Het
Cyp26a1 T G 19: 37,699,962 (GRCm38) S311A probably damaging Het
Cyp2b10 T C 7: 25,926,223 (GRCm38) Y484H probably benign Het
Cyp3a44 T A 5: 145,788,467 (GRCm38) Y308F possibly damaging Het
Dlg5 A G 14: 24,164,089 (GRCm38) V744A probably benign Het
Dlgap2 T A 8: 14,727,128 (GRCm38) Y124* probably null Het
Dnah3 T C 7: 119,922,880 (GRCm38) D4030G probably benign Het
Dnah5 A G 15: 28,458,584 (GRCm38) T4456A possibly damaging Het
Dtx2 T A 5: 136,023,699 (GRCm38) V347D probably benign Het
Gigyf2 C T 1: 87,407,167 (GRCm38) T294M probably damaging Het
Gli3 C G 13: 15,726,162 (GRCm38) S1378* probably null Het
Gm884 A G 11: 103,542,120 (GRCm38) S1232P possibly damaging Het
Gnao1 G A 8: 93,966,999 (GRCm38) D337N probably benign Het
Gp2 T A 7: 119,449,129 (GRCm38) Q422L probably benign Het
Ifit1 T A 19: 34,648,469 (GRCm38) M335K possibly damaging Het
Ism1 T C 2: 139,678,757 (GRCm38) S30P probably benign Het
Itgax A G 7: 128,140,447 (GRCm38) D677G probably damaging Het
Kansl1l G A 1: 66,725,922 (GRCm38) A442V probably damaging Het
Kif13a T C 13: 46,771,524 (GRCm38) I311M probably damaging Het
Lsm14b T A 2: 180,031,425 (GRCm38) S84R probably benign Het
Lzts3 A G 2: 130,636,288 (GRCm38) Y297H probably damaging Het
Map4k3 A G 17: 80,644,762 (GRCm38) I205T probably damaging Het
Matn2 A T 15: 34,410,165 (GRCm38) N501I probably damaging Het
Mctp2 T C 7: 72,103,177 (GRCm38) E776G probably damaging Het
Mex3d A T 10: 80,382,587 (GRCm38) N265K probably damaging Het
Myo5a A G 9: 75,203,833 (GRCm38) T1534A probably benign Het
Ncoa7 T C 10: 30,704,636 (GRCm38) M35V probably damaging Het
Nek4 G A 14: 30,957,079 (GRCm38) probably null Het
Ngrn T C 7: 80,261,933 (GRCm38) probably null Het
Nlrp1a T A 11: 71,123,020 (GRCm38) Q468L probably benign Het
Olfr1450 A C 19: 12,954,531 (GRCm38) Q314P probably benign Het
Olfr743 T A 14: 50,534,198 (GRCm38) M262K probably damaging Het
Phtf2 T C 5: 20,775,934 (GRCm38) D433G probably damaging Het
Prdm13 G A 4: 21,683,852 (GRCm38) Q140* probably null Het
Prtg G A 9: 72,892,254 (GRCm38) G778E probably benign Het
Pum3 T C 19: 27,420,051 (GRCm38) E308G probably damaging Het
Pwp1 T G 10: 85,882,886 (GRCm38) F306V probably damaging Het
Rab24 A T 13: 55,321,576 (GRCm38) Y27N probably damaging Het
Rnf215 T C 11: 4,135,898 (GRCm38) F126L probably benign Het
Samd13 A T 3: 146,680,696 (GRCm38) probably benign Het
Serac1 T A 17: 6,065,049 (GRCm38) H213L probably benign Het
Slc45a3 A G 1: 131,978,073 (GRCm38) E278G probably damaging Het
Slit3 C T 11: 35,700,236 (GRCm38) R1292C probably damaging Het
Slx4 A T 16: 4,000,951 (GRCm38) probably null Het
Smarca4 C A 9: 21,647,430 (GRCm38) T631K probably benign Het
Stk40 T C 4: 126,128,895 (GRCm38) V140A probably damaging Het
Tcf12 A T 9: 71,868,240 (GRCm38) D409E probably damaging Het
Tgfbr2 G T 9: 116,110,255 (GRCm38) T168K possibly damaging Het
Ticam1 G T 17: 56,271,703 (GRCm38) H131N probably damaging Het
Ttn C A 2: 76,829,888 (GRCm38) R7458I possibly damaging Het
Ttn C A 2: 76,713,511 (GRCm38) E31298* probably null Het
Usp7 A G 16: 8,712,102 (GRCm38) V133A possibly damaging Het
Wbp1l C T 19: 46,654,180 (GRCm38) R191* probably null Het
Wdfy4 T C 14: 33,106,011 (GRCm38) E1118G probably damaging Het
Zfp81 G C 17: 33,336,845 (GRCm38) P3A probably damaging Het
Znhit6 A G 3: 145,576,933 (GRCm38) K21R possibly damaging Het
Other mutations in Snx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Snx16 APN 3 10,419,159 (GRCm38) missense probably damaging 1.00
IGL02682:Snx16 APN 3 10,438,175 (GRCm38) missense probably damaging 1.00
R0539:Snx16 UTSW 3 10,426,218 (GRCm38) missense probably damaging 0.98
R1469:Snx16 UTSW 3 10,434,371 (GRCm38) missense probably damaging 1.00
R1469:Snx16 UTSW 3 10,434,371 (GRCm38) missense probably damaging 1.00
R1771:Snx16 UTSW 3 10,419,161 (GRCm38) missense probably damaging 1.00
R5262:Snx16 UTSW 3 10,437,832 (GRCm38) missense probably damaging 1.00
R5693:Snx16 UTSW 3 10,420,258 (GRCm38) missense probably benign 0.00
R5969:Snx16 UTSW 3 10,438,157 (GRCm38) missense possibly damaging 0.93
R6826:Snx16 UTSW 3 10,438,088 (GRCm38) missense probably damaging 0.99
R7456:Snx16 UTSW 3 10,435,481 (GRCm38) nonsense probably null
R7996:Snx16 UTSW 3 10,435,449 (GRCm38) missense probably benign 0.11
R8095:Snx16 UTSW 3 10,438,184 (GRCm38) start codon destroyed probably null 1.00
R8822:Snx16 UTSW 3 10,419,065 (GRCm38) missense probably benign
R8880:Snx16 UTSW 3 10,419,133 (GRCm38) missense probably benign 0.01
R9188:Snx16 UTSW 3 10,420,775 (GRCm38) missense possibly damaging 0.88
R9425:Snx16 UTSW 3 10,434,460 (GRCm38) missense probably damaging 1.00
Z1177:Snx16 UTSW 3 10,420,858 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-03-31