Incidental Mutation 'IGL02682:Snx16'
ID 303393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Name sorting nexin 16
Synonyms 4930522N22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02682
Quality Score
Status
Chromosome 3
Chromosomal Location 10482877-10505162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10503235 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C080
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: 58,367,823 (GRCm39) S113P probably benign Het
Arhgdib A T 6: 136,901,166 (GRCm39) W188R probably damaging Het
Bcr T A 10: 75,001,878 (GRCm39) N927K possibly damaging Het
Cd209c A G 8: 3,990,324 (GRCm39) Y165H probably damaging Het
Cnnm2 A G 19: 46,750,515 (GRCm39) K102E probably benign Het
Col12a1 T C 9: 79,606,623 (GRCm39) E600G probably damaging Het
Ddx4 A T 13: 112,758,720 (GRCm39) H280Q probably benign Het
Eya4 T C 10: 22,992,498 (GRCm39) Y462C probably damaging Het
Fibcd1 T A 2: 31,728,576 (GRCm39) I94F probably damaging Het
Gm4846 C A 1: 166,322,195 (GRCm39) G124V probably damaging Het
Gm5624 A G 14: 44,797,469 (GRCm39) I108T possibly damaging Het
Gpr179 A T 11: 97,242,691 (GRCm39) M51K probably benign Het
Hck A G 2: 152,976,054 (GRCm39) I198V probably damaging Het
Kcnd2 T A 6: 21,216,924 (GRCm39) C209* probably null Het
Klhl1 T A 14: 96,438,778 (GRCm39) I507F possibly damaging Het
Knl1 A T 2: 118,908,450 (GRCm39) K1693N possibly damaging Het
Mcam T C 9: 44,051,714 (GRCm39) V490A possibly damaging Het
Mrgprx1 A T 7: 47,671,740 (GRCm39) D2E probably damaging Het
Mtg1 T C 7: 139,724,642 (GRCm39) probably benign Het
Myof C A 19: 37,909,929 (GRCm39) R1512L probably benign Het
Nrp2 C T 1: 62,810,996 (GRCm39) T679I probably benign Het
Nwd2 C A 5: 63,962,020 (GRCm39) L535I probably benign Het
Nwd2 T A 5: 63,962,021 (GRCm39) L535H probably damaging Het
Or4f14b T A 2: 111,775,285 (GRCm39) N172I probably damaging Het
Or52j3 A T 7: 102,836,221 (GRCm39) I138F probably damaging Het
Or5b94 T C 19: 12,652,033 (GRCm39) S155P probably damaging Het
Phkb A G 8: 86,602,275 (GRCm39) *41W probably null Het
Prl5a1 T A 13: 28,329,403 (GRCm39) N27K probably benign Het
Rims1 T C 1: 22,358,708 (GRCm39) T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 (GRCm39) A376V probably damaging Het
Slc34a2 T C 5: 53,216,580 (GRCm39) V117A possibly damaging Het
Slfn8 A T 11: 82,894,517 (GRCm39) F707L probably damaging Het
Snx6 T C 12: 54,801,130 (GRCm39) D289G probably damaging Het
St8sia3 G T 18: 64,402,750 (GRCm39) V130F probably damaging Het
U2surp A G 9: 95,363,704 (GRCm39) probably null Het
Ubqln3 A G 7: 103,791,272 (GRCm39) F273L probably benign Het
Vmn2r101 A T 17: 19,832,507 (GRCm39) R834S possibly damaging Het
Vmn2r18 G T 5: 151,508,102 (GRCm39) H341N probably damaging Het
Vrk3 A G 7: 44,403,244 (GRCm39) I2V probably benign Het
Zglp1 A G 9: 20,977,534 (GRCm39) S94P probably benign Het
Other mutations in Snx16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Snx16 APN 3 10,484,219 (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
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
Posted On 2015-04-16