Incidental Mutation 'R6826:Snx16'
ID 534145
Institutional Source Beutler Lab
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Name sorting nexin 16
Synonyms 4930522N22Rik
MMRRC Submission 045019-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6826 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 10482877-10505162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10503148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 33 (V33D)
Ref Sequence ENSEMBL: ENSMUSP00000141230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]
AlphaFold Q8C080
Predicted Effect probably benign
Transcript: ENSMUST00000029047
AA Change: V33D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: V33D

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 benign
Transcript: ENSMUST00000099223
AA Change: V33D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: V33D

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: V33D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534
AA Change: V33D

DomainStartEndE-ValueType
low complexity region 27 40 N/A INTRINSIC
Blast:PX 105 134 2e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 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
Abca6 T C 11: 110,107,431 (GRCm39) N728S probably benign Het
Acaca T C 11: 84,086,362 (GRCm39) S63P probably damaging Het
Akr1c12 A G 13: 4,325,733 (GRCm39) V120A probably benign Het
Ap4b1 G A 3: 103,720,224 (GRCm39) probably null Het
Apol7e T A 15: 77,602,491 (GRCm39) V363D probably damaging Het
Bmpr1b A T 3: 141,563,167 (GRCm39) L259Q probably damaging Het
Cdhr17 A G 5: 17,013,292 (GRCm39) I219V unknown Het
Clca3a2 T C 3: 144,523,815 (GRCm39) T57A possibly damaging Het
Copb1 T C 7: 113,825,954 (GRCm39) T677A probably benign Het
Crhr2 T C 6: 55,094,725 (GRCm39) probably benign Het
Cyp11a1 A G 9: 57,932,370 (GRCm39) T228A probably damaging Het
Dnah1 T C 14: 31,008,247 (GRCm39) I2084V probably benign Het
Dnajc17 T C 2: 119,011,408 (GRCm39) K174R probably damaging Het
Dnm2 T A 9: 21,415,767 (GRCm39) Y646* probably null Het
Dock9 G A 14: 121,860,330 (GRCm39) P866L probably damaging Het
Elmo3 A T 8: 106,033,378 (GRCm39) I115F probably damaging Het
Elmod1 T C 9: 53,826,883 (GRCm39) T268A probably benign Het
F10 T C 8: 13,096,165 (GRCm39) probably null Het
Fmo4 C T 1: 162,631,338 (GRCm39) V210M probably damaging Het
Foxred2 G T 15: 77,831,285 (GRCm39) H509Q probably benign Het
Hyal6 A G 6: 24,734,371 (GRCm39) I101M probably damaging Het
Igkv5-48 T C 6: 69,703,584 (GRCm39) Y107C probably damaging Het
Jag1 A G 2: 136,958,095 (GRCm39) probably null Het
Leng8 T A 7: 4,148,319 (GRCm39) V697E probably damaging Het
Mdga1 T C 17: 30,189,000 (GRCm39) N21S unknown Het
Midn T A 10: 79,989,961 (GRCm39) C126* probably null Het
Mlh3 A T 12: 85,292,598 (GRCm39) V1303E probably benign Het
Myh4 T C 11: 67,137,357 (GRCm39) L526P probably damaging Het
Or10ag55-ps1 G A 2: 87,114,672 (GRCm39) E13K probably benign Het
Or5b3 T A 19: 13,388,452 (GRCm39) V173E probably benign Het
Pde6b C T 5: 108,578,458 (GRCm39) R799* probably null Het
Pde9a A G 17: 31,685,414 (GRCm39) D382G probably benign Het
Pdrg1 A C 2: 152,852,176 (GRCm39) probably null Het
Peg10 C CATCAGGATG 6: 4,756,353 (GRCm39) probably benign Het
Ppp1r3a C A 6: 14,718,980 (GRCm39) E645* probably null Het
Prrc2b A G 2: 32,112,300 (GRCm39) probably null Het
Ptprb T A 10: 116,153,277 (GRCm39) M578K probably benign Het
Rasgrp3 G T 17: 75,810,241 (GRCm39) V314F probably damaging Het
Rps9 C A 7: 3,708,775 (GRCm39) D84E probably benign Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Serpina1e A G 12: 103,915,397 (GRCm39) F270L probably benign Het
Slc24a5 G A 2: 124,910,778 (GRCm39) V70I probably benign Het
Slfn14 C A 11: 83,172,644 (GRCm39) probably null Het
Smcr8 G T 11: 60,669,688 (GRCm39) D279Y possibly damaging Het
Tesc A G 5: 118,194,483 (GRCm39) T131A probably damaging Het
Tnfaip8l3 G T 9: 53,934,783 (GRCm39) T64K possibly damaging Het
Vmn2r1 T A 3: 64,012,567 (GRCm39) Y809* probably null Het
Vmn2r25 A G 6: 123,800,071 (GRCm39) V757A probably damaging Het
Vmn2r3 A T 3: 64,182,327 (GRCm39) Y457* probably null Het
Wee1 T C 7: 109,723,870 (GRCm39) probably null Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zfp541 A G 7: 15,812,907 (GRCm39) E520G probably damaging Het
Zfp579 G T 7: 4,997,425 (GRCm39) A162D probably benign Het
Zfp811 A G 17: 33,016,762 (GRCm39) F425S probably damaging 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
R5262:Snx16 UTSW 3 10,502,892 (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
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'- TGAAGGTCTGTCTTCCCAGTTC -3'
(R):5'- GCAATGAACTGCATATTGGTTGTTC -3'

Sequencing Primer
(F):5'- AGTTCACTGCCTCAGGATGCTG -3'
(R):5'- TCTTTAAGTGTTTGGACTCAAAGG -3'
Posted On 2018-09-12