Incidental Mutation 'R5262:Snx16'
ID 401481
Institutional Source Beutler Lab
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Name sorting nexin 16
Synonyms 4930522N22Rik
MMRRC Submission 042857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5262 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 10482877-10505162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10502892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 118 (M118I)
Ref Sequence ENSEMBL: ENSMUSP00000029047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]
AlphaFold Q8C080
Predicted Effect probably damaging
Transcript: ENSMUST00000029047
AA Change: M118I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: M118I

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000099223
AA Change: M118I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: M118I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000195822
AA Change: M118I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534
AA Change: M118I

DomainStartEndE-ValueType
low complexity region 27 40 N/A INTRINSIC
Blast:PX 105 134 2e-6 BLAST
Meta Mutation Damage Score 0.3447 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (61/62)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,390,557 (GRCm39) D821V possibly damaging Het
Ankdd1b C A 13: 96,557,281 (GRCm39) R384L probably damaging Het
Ces1e A G 8: 93,950,586 (GRCm39) F65S probably damaging Het
Cfap53 A C 18: 74,462,530 (GRCm39) S425R probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Cyp2d34 A T 15: 82,502,572 (GRCm39) V188E probably damaging Het
Defb26 A T 2: 152,349,878 (GRCm39) M134K unknown Het
Dnah10 A C 5: 124,862,220 (GRCm39) K2158N probably damaging Het
Dnah9 C T 11: 66,003,159 (GRCm39) V882M probably benign Het
Dpyd C A 3: 118,591,071 (GRCm39) Y186* probably null Het
Elovl1 G A 4: 118,288,124 (GRCm39) probably benign Het
Fars2 T A 13: 36,526,001 (GRCm39) I329N probably damaging Het
Gstm1 T A 3: 107,923,679 (GRCm39) M109L probably benign Het
Gtf2e1 T C 16: 37,356,293 (GRCm39) T80A probably damaging Het
Gtf2h2 A G 13: 100,618,356 (GRCm39) probably benign Het
Hrh4 G T 18: 13,148,870 (GRCm39) L77F probably damaging Het
Ifi47 A G 11: 48,986,559 (GRCm39) T109A probably benign Het
Igsf5 G T 16: 96,192,237 (GRCm39) E179* probably null Het
Ints8 A G 4: 11,211,916 (GRCm39) I885T probably damaging Het
Iqgap1 T G 7: 80,376,490 (GRCm39) I1341L probably benign Het
Kmt2b A G 7: 30,269,219 (GRCm39) L2567P probably damaging Het
Lilrb4a T C 10: 51,369,303 (GRCm39) probably null Het
Maip1 G A 1: 57,446,131 (GRCm39) R67H probably damaging Het
Muc6 T A 7: 141,237,375 (GRCm39) I254F possibly damaging Het
Nfkb1 A T 3: 135,318,173 (GRCm39) probably null Het
Nlrp4a T C 7: 26,159,236 (GRCm39) probably null Het
Nrap A T 19: 56,308,655 (GRCm39) I1477N possibly damaging Het
Pdgfa A G 5: 138,979,049 (GRCm39) S52P probably benign Het
Pou1f1 G T 16: 65,328,868 (GRCm39) E196* probably null Het
Ppp2r5e G A 12: 75,640,045 (GRCm39) R19W probably damaging Het
Ptn T A 6: 36,721,419 (GRCm39) Q7L probably benign Het
Rbp3 G T 14: 33,676,807 (GRCm39) A252S probably damaging Het
Rcor2 G T 19: 7,251,426 (GRCm39) V313L probably damaging Het
Rtp3 A T 9: 110,815,195 (GRCm39) probably benign Het
Ryr2 T C 13: 11,787,323 (GRCm39) T1017A probably damaging Het
Scgb2b11 T C 7: 31,908,776 (GRCm39) N108S probably benign Het
Sgo2b C A 8: 64,396,171 (GRCm39) L28F probably damaging Het
Shroom3 A G 5: 93,112,432 (GRCm39) E1850G probably damaging Het
Slc16a14 A G 1: 84,890,612 (GRCm39) L231P probably benign Het
Slfn5 A G 11: 82,847,496 (GRCm39) E127G possibly damaging Het
Snx21 T C 2: 164,633,741 (GRCm39) F176L probably damaging Het
Tap2 A G 17: 34,432,990 (GRCm39) N424S probably benign Het
Tcf7l1 T C 6: 72,613,449 (GRCm39) probably benign Het
Trappc8 C T 18: 20,951,247 (GRCm39) V1400I probably benign Het
Trim58 T C 11: 58,542,494 (GRCm39) Y485H possibly damaging Het
U2af1l4 C T 7: 30,263,638 (GRCm39) T65I probably benign Het
Ufl1 G T 4: 25,251,294 (GRCm39) probably benign Het
Usp8 A G 2: 126,593,031 (GRCm39) N762S probably damaging Het
Virma A T 4: 11,539,926 (GRCm39) D1465V probably benign Het
Vmn1r48 A T 6: 90,013,016 (GRCm39) S270T probably benign Het
Vrk2 T A 11: 26,541,697 (GRCm39) Y9F possibly damaging Het
Wwp1 A G 4: 19,631,057 (GRCm39) F659L probably damaging Het
Zbtb24 C T 10: 41,340,556 (GRCm39) Q529* probably null Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Snx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Snx16 APN 3 10,484,219 (GRCm39) missense probably damaging 1.00
IGL02682:Snx16 APN 3 10,503,235 (GRCm39) missense probably damaging 1.00
R0539:Snx16 UTSW 3 10,491,278 (GRCm39) missense probably damaging 0.98
R1469:Snx16 UTSW 3 10,499,431 (GRCm39) missense probably damaging 1.00
R1469:Snx16 UTSW 3 10,499,431 (GRCm39) missense probably damaging 1.00
R1771:Snx16 UTSW 3 10,484,221 (GRCm39) missense probably damaging 1.00
R5693:Snx16 UTSW 3 10,485,318 (GRCm39) missense probably benign 0.00
R5964:Snx16 UTSW 3 10,499,541 (GRCm39) missense possibly damaging 0.92
R5969:Snx16 UTSW 3 10,503,217 (GRCm39) missense possibly damaging 0.93
R6826:Snx16 UTSW 3 10,503,148 (GRCm39) missense probably damaging 0.99
R7456:Snx16 UTSW 3 10,500,541 (GRCm39) nonsense probably null
R7996:Snx16 UTSW 3 10,500,509 (GRCm39) missense probably benign 0.11
R8095:Snx16 UTSW 3 10,503,244 (GRCm39) start codon destroyed probably null 1.00
R8822:Snx16 UTSW 3 10,484,125 (GRCm39) missense probably benign
R8880:Snx16 UTSW 3 10,484,193 (GRCm39) missense probably benign 0.01
R9188:Snx16 UTSW 3 10,485,835 (GRCm39) missense possibly damaging 0.88
R9425:Snx16 UTSW 3 10,499,520 (GRCm39) missense probably damaging 1.00
Z1177:Snx16 UTSW 3 10,485,918 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGGGTAACTCTCATAAGCCTAG -3'
(R):5'- TTAGAGGACTCAGCTGTGGG -3'

Sequencing Primer
(F):5'- GGTAACTCTCATAAGCCTAGCACCAG -3'
(R):5'- TCTTAAGCAGACGAATGTCCAGGATC -3'
Posted On 2016-07-06