Incidental Mutation 'IGL02682:Snx16'
ID303393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Namesorting nexin 16
Synonyms4930522N22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL02682
Quality Score
Status
Chromosome3
Chromosomal Location10417817-10440102 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 10438175 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 4 (P4L)
Ref Sequence ENSEMBL: ENSMUSP00000141230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]
Predicted Effect probably damaging
Transcript: ENSMUST00000029047
AA Change: P4L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: P4L

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: P4L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: P4L

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: P4L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534
AA Change: P4L

DomainStartEndE-ValueType
low complexity region 27 40 N/A INTRINSIC
Blast:PX 105 134 2e-6 BLAST
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,477,811 S113P probably benign Het
Arhgdib A T 6: 136,924,168 W188R probably damaging Het
Bcr T A 10: 75,166,046 N927K possibly damaging Het
Cd209c A G 8: 3,940,324 Y165H probably damaging Het
Cnnm2 A G 19: 46,762,076 K102E probably benign Het
Col12a1 T C 9: 79,699,341 E600G probably damaging Het
Ddx4 A T 13: 112,622,186 H280Q probably benign Het
Eya4 T C 10: 23,116,600 Y462C probably damaging Het
Fibcd1 T A 2: 31,838,564 I94F probably damaging Het
Gm4846 C A 1: 166,494,626 G124V probably damaging Het
Gm5624 A G 14: 44,560,012 I108T possibly damaging Het
Gpr179 A T 11: 97,351,865 M51K probably benign Het
Hck A G 2: 153,134,134 I198V probably damaging Het
Kcnd2 T A 6: 21,216,925 C209* probably null Het
Klhl1 T A 14: 96,201,342 I507F possibly damaging Het
Knl1 A T 2: 119,077,969 K1693N possibly damaging Het
Mcam T C 9: 44,140,417 V490A possibly damaging Het
Mrgprx1 A T 7: 48,021,992 D2E probably damaging Het
Mtg1 T C 7: 140,144,729 probably benign Het
Myof C A 19: 37,921,481 R1512L probably benign Het
Nrp2 C T 1: 62,771,837 T679I probably benign Het
Nwd2 C A 5: 63,804,677 L535I probably benign Het
Nwd2 T A 5: 63,804,678 L535H probably damaging Het
Olfr1307 T A 2: 111,944,940 N172I probably damaging Het
Olfr1442 T C 19: 12,674,669 S155P probably damaging Het
Olfr592 A T 7: 103,187,014 I138F probably damaging Het
Phkb A G 8: 85,875,646 *41W probably null Het
Prl5a1 T A 13: 28,145,420 N27K probably benign Het
Rims1 T C 1: 22,288,484 T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 A376V probably damaging Het
Slc34a2 T C 5: 53,059,238 V117A possibly damaging Het
Slfn8 A T 11: 83,003,691 F707L probably damaging Het
Snx6 T C 12: 54,754,345 D289G probably damaging Het
St8sia3 G T 18: 64,269,679 V130F probably damaging Het
U2surp A G 9: 95,481,651 probably null Het
Ubqln3 A G 7: 104,142,065 F273L probably benign Het
Vmn2r101 A T 17: 19,612,245 R834S possibly damaging Het
Vmn2r18 G T 5: 151,584,637 H341N probably damaging Het
Vrk3 A G 7: 44,753,820 I2V probably benign Het
Zglp1 A G 9: 21,066,238 S94P probably benign Het
Other mutations in Snx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Snx16 APN 3 10419159 missense probably damaging 1.00
R0539:Snx16 UTSW 3 10426218 missense probably damaging 0.98
R1469:Snx16 UTSW 3 10434371 missense probably damaging 1.00
R1469:Snx16 UTSW 3 10434371 missense probably damaging 1.00
R1771:Snx16 UTSW 3 10419161 missense probably damaging 1.00
R5262:Snx16 UTSW 3 10437832 missense probably damaging 1.00
R5693:Snx16 UTSW 3 10420258 missense probably benign 0.00
R5964:Snx16 UTSW 3 10434481 missense possibly damaging 0.92
R5969:Snx16 UTSW 3 10438157 missense possibly damaging 0.93
R6826:Snx16 UTSW 3 10438088 missense probably damaging 0.99
R7456:Snx16 UTSW 3 10435481 nonsense probably null
R7996:Snx16 UTSW 3 10435449 missense probably benign 0.11
Z1177:Snx16 UTSW 3 10420858 nonsense probably null
Posted On2015-04-16