Incidental Mutation 'R7996:Snx16'
ID 616070
Institutional Source Beutler Lab
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Name sorting nexin 16
Synonyms 4930522N22Rik
MMRRC Submission 046036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 10482877-10505162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10500509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 153 (D153E)
Ref Sequence ENSEMBL: ENSMUSP00000029047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]
AlphaFold Q8C080
Predicted Effect probably benign
Transcript: ENSMUST00000029047
AA Change: D153E

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: D153E

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: D153E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: D153E

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 benign
Transcript: ENSMUST00000195822
SMART Domains Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534

DomainStartEndE-ValueType
low complexity region 27 40 N/A INTRINSIC
Blast:PX 105 134 2e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,977,490 (GRCm39) N394K probably damaging Het
Amotl1 T C 9: 14,505,001 (GRCm39) D69G possibly damaging Het
Arid5a G T 1: 36,356,526 (GRCm39) C121F unknown Het
Ccne2 C A 4: 11,201,347 (GRCm39) Q292K probably benign Het
Cfap70 A G 14: 20,459,194 (GRCm39) I723T probably benign Het
Chrnd A G 1: 87,118,828 (GRCm39) T62A probably damaging Het
Cobll1 T A 2: 64,981,329 (GRCm39) H87L possibly damaging Het
Derl1 T G 15: 57,741,970 (GRCm39) M122L probably benign Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Efcab12 T C 6: 115,800,378 (GRCm39) Q215R probably benign Het
Eif3m T C 2: 104,831,694 (GRCm39) N289D probably benign Het
Elapor2 A C 5: 9,512,881 (GRCm39) K958N probably damaging Het
Emsy T A 7: 98,242,888 (GRCm39) I1084L probably benign Het
Garin3 T C 11: 46,295,889 (GRCm39) V87A Het
Garre1 G T 7: 33,963,024 (GRCm39) T216K possibly damaging Het
Gm3336 A T 8: 71,173,146 (GRCm39) T53S unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Katnb1 A T 8: 95,824,643 (GRCm39) I546F possibly damaging Het
Memo1 A T 17: 74,565,491 (GRCm39) L24Q probably damaging Het
Mmel1 C G 4: 154,976,912 (GRCm39) Q529E probably benign Het
Naip5 A G 13: 100,358,164 (GRCm39) F1024S probably damaging Het
Or4c58 T C 2: 89,674,759 (GRCm39) D186G probably benign Het
Or7c70 A T 10: 78,683,155 (GRCm39) V198E probably damaging Het
Paics A G 5: 77,107,276 (GRCm39) K110R probably benign Het
Pate13 G A 9: 35,820,650 (GRCm39) R34H probably damaging Het
Pcdhgc4 C T 18: 37,950,459 (GRCm39) S625F probably damaging Het
Pnpla8 T A 12: 44,329,766 (GRCm39) L106* probably null Het
Rabggtb T C 3: 153,617,605 (GRCm39) H31R probably damaging Het
Rhot1 G A 11: 80,148,363 (GRCm39) C601Y probably damaging Het
Rps27 A G 3: 90,120,309 (GRCm39) V53A probably benign Het
Sdr39u1 C A 14: 56,135,344 (GRCm39) G200* probably null Het
Sesn1 T A 10: 41,770,929 (GRCm39) Y153* probably null Het
Slc25a40 A G 5: 8,493,653 (GRCm39) T168A probably damaging Het
Smoc2 C T 17: 14,595,730 (GRCm39) R286* probably null Het
Smtnl2 T A 11: 72,291,200 (GRCm39) K349N probably damaging Het
Spata31e5 C T 1: 28,817,487 (GRCm39) E182K probably damaging Het
Ssu72 A C 4: 155,816,450 (GRCm39) N144T probably benign Het
Stk40 C A 4: 126,030,667 (GRCm39) L296I probably damaging Het
Sult3a2 T C 10: 33,644,254 (GRCm39) M225V probably damaging Het
Syne2 T C 12: 76,051,441 (GRCm39) L4057P probably damaging Het
Tbx2 A G 11: 85,725,616 (GRCm39) H189R probably damaging Het
Tead1 T C 7: 112,441,311 (GRCm39) probably null Het
Tgs1 T C 4: 3,605,842 (GRCm39) S786P probably damaging Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Trim14 A T 4: 46,533,086 (GRCm39) C76S probably benign Het
Tubgcp6 T A 15: 88,993,231 (GRCm39) Q506L possibly damaging Het
Vmn2r50 A T 7: 9,781,795 (GRCm39) F317I probably damaging Het
Vwa5a T A 9: 38,639,124 (GRCm39) Y335* probably null Het
Zgrf1 C T 3: 127,389,573 (GRCm39) T1257I possibly damaging Het
Zpr1 A G 9: 46,184,863 (GRCm39) N87D possibly 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
R6826:Snx16 UTSW 3 10,503,148 (GRCm39) missense probably damaging 0.99
R7456:Snx16 UTSW 3 10,500,541 (GRCm39) nonsense probably null
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'- CAGCTAATTGTGCAGATGACAC -3'
(R):5'- CTCCAAGTTGGTGCTGCTTC -3'

Sequencing Primer
(F):5'- CTGCATGAAGTGAAGATGC -3'
(R):5'- CAGAGAAGCTCCTGAATGTTGCTC -3'
Posted On 2020-01-23