Incidental Mutation 'R7456:Snx16'
ID 578110
Institutional Source Beutler Lab
Gene Symbol Snx16
Ensembl Gene ENSMUSG00000027534
Gene Name sorting nexin 16
Synonyms 4930522N22Rik
MMRRC Submission 045530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 10482877-10505162 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 10500541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 143 (R143*)
Ref Sequence ENSEMBL: ENSMUSP00000029047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]
AlphaFold Q8C080
Predicted Effect probably null
Transcript: ENSMUST00000029047
AA Change: R143*
SMART Domains Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: R143*

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 null
Transcript: ENSMUST00000099223
AA Change: R143*
SMART Domains Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: R143*

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: 99.8%
  • 20x: 99.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 A G 4: 86,792,748 (GRCm39) D8G possibly damaging Het
Angpt4 T C 2: 151,780,987 (GRCm39) Y412H probably damaging Het
Ankef1 A G 2: 136,387,734 (GRCm39) D217G probably benign Het
Ano2 A T 6: 125,940,508 (GRCm39) I544F probably benign Het
App G A 16: 84,970,448 (GRCm39) Het
Arhgef26 A G 3: 62,247,476 (GRCm39) T187A probably benign Het
Axin1 T A 17: 26,362,139 (GRCm39) V161E probably damaging Het
Bbs7 A T 3: 36,648,527 (GRCm39) V407D probably damaging Het
C1qtnf3 A T 15: 10,972,137 (GRCm39) E141V probably benign Het
C2 A G 17: 35,083,558 (GRCm39) I469T probably damaging Het
Cc2d1a A G 8: 84,866,868 (GRCm39) probably null Het
Cd226 A T 18: 89,224,747 (GRCm39) I10F probably damaging Het
Cep295nl T C 11: 118,224,376 (GRCm39) K156R possibly damaging Het
Cfap20dc A T 14: 8,442,933 (GRCm38) L612* probably null Het
Cfap44 A G 16: 44,252,305 (GRCm39) T805A probably benign Het
Chd9 G T 8: 91,659,153 (GRCm39) E38* probably null Het
Cldnd2 C T 7: 43,091,109 (GRCm39) L14F not run Het
Cyp11b2 T C 15: 74,725,379 (GRCm39) T247A probably benign Het
Dennd11 T G 6: 40,383,774 (GRCm39) M423L probably benign Het
Dsc1 T C 18: 20,219,879 (GRCm39) S764G probably benign Het
Dsg3 A T 18: 20,664,420 (GRCm39) T473S probably benign Het
Fam193a A T 5: 34,578,132 (GRCm39) I209F possibly damaging Het
Foxs1 T C 2: 152,775,045 (GRCm39) K3E probably benign Het
Gabrr3 C T 16: 59,227,853 (GRCm39) Q37* probably null Het
Gcm2 A T 13: 41,256,751 (GRCm39) W333R probably benign Het
Gcn1 C T 5: 115,743,005 (GRCm39) Q1559* probably null Het
Gfm2 A T 13: 97,282,211 (GRCm39) K69* probably null Het
Gm14295 T G 2: 176,500,943 (GRCm39) C144W possibly damaging Het
Gm32742 G A 9: 51,071,270 (GRCm39) T5I probably damaging Het
Gm5093 T C 17: 46,750,679 (GRCm39) D116G probably damaging Het
Gsn A T 2: 35,172,718 (GRCm39) K3N possibly damaging Het
H2-M2 C T 17: 37,792,552 (GRCm39) D240N possibly damaging Het
Habp2 G C 19: 56,307,957 (GRCm39) G482R probably damaging Het
Hnrnpm A T 17: 33,865,622 (GRCm39) Y680N possibly damaging Het
Hrc T A 7: 44,986,320 (GRCm39) D490E possibly damaging Het
Impg2 A G 16: 56,080,276 (GRCm39) I693M probably benign Het
Itga7 A G 10: 128,777,805 (GRCm39) Y262C probably damaging Het
Kif1c A G 11: 70,619,424 (GRCm39) T1020A probably benign Het
Kif23 T C 9: 61,844,402 (GRCm39) I139V probably benign Het
Klk1b5 A G 7: 43,500,255 (GRCm39) E281G probably benign Het
Kpna4 A G 3: 69,000,181 (GRCm39) V275A probably damaging Het
Lamb2 C A 9: 108,362,979 (GRCm39) D787E possibly damaging Het
Ldlrad3 A C 2: 101,785,270 (GRCm39) V235G probably damaging Het
Maneal A G 4: 124,750,767 (GRCm39) S330P probably damaging Het
Maz G A 7: 126,625,489 (GRCm39) Q35* probably null Het
Mthfd1l C T 10: 4,039,998 (GRCm39) T803M probably damaging Het
Muc5ac A G 7: 141,346,904 (GRCm39) Q325R probably benign Het
Myo3a C A 2: 22,412,255 (GRCm39) A758E probably benign Het
Ndufb7 A G 8: 84,293,482 (GRCm39) D12G probably benign Het
Nsun2 T A 13: 69,781,725 (GRCm39) C677S probably damaging Het
Obscn A G 11: 58,899,384 (GRCm39) F6471S probably benign Het
Or4c106 A T 2: 88,682,563 (GRCm39) I90F probably damaging Het
Or51k1 A G 7: 103,661,045 (GRCm39) V288A possibly damaging Het
Or7g32 T C 9: 19,408,844 (GRCm39) S267P probably damaging Het
Otof T C 5: 30,552,005 (GRCm39) D313G probably damaging Het
Paqr5 T C 9: 61,880,072 (GRCm39) D74G probably benign Het
Pigq A G 17: 26,153,580 (GRCm39) V365A unknown Het
Podn A T 4: 107,875,002 (GRCm39) N588K probably benign Het
Polr3b G A 10: 84,458,355 (GRCm39) G9R probably benign Het
Proser1 A G 3: 53,385,939 (GRCm39) H607R probably damaging Het
Ryr2 C T 13: 11,767,168 (GRCm39) V1241I probably benign Het
Sar1b G A 11: 51,682,181 (GRCm39) A170T probably benign Het
Slc22a17 T C 14: 55,149,716 (GRCm39) T191A probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,779 (GRCm39) unknown Het
Slco6d1 A T 1: 98,349,082 (GRCm39) D51V possibly damaging Het
Sytl2 T A 7: 89,998,055 (GRCm39) L19Q probably damaging Het
Tmcc3 A G 10: 94,418,174 (GRCm39) E345G possibly damaging Het
Ttn C T 2: 76,555,998 (GRCm39) A30336T probably damaging Het
Vmn1r44 A G 6: 89,870,401 (GRCm39) D49G probably benign Het
Vps35l C T 7: 118,403,340 (GRCm39) P628S probably benign Het
Vps41 T A 13: 19,048,204 (GRCm39) D801E probably benign Het
Wif1 G A 10: 120,932,554 (GRCm39) E311K probably benign Het
Zfp513 G T 5: 31,357,759 (GRCm39) R207S possibly damaging Het
Zfp52 C A 17: 21,781,615 (GRCm39) H488N probably damaging Het
Zfp738 A G 13: 67,817,619 (GRCm39) Y791H 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
R6826:Snx16 UTSW 3 10,503,148 (GRCm39) missense probably damaging 0.99
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'- GCAGCTAATTGTGCAGATGAC -3'
(R):5'- TCCAAGTTGGTGCTGCTTC -3'

Sequencing Primer
(F):5'- CTTGTAGGAAGCTGCATG -3'
(R):5'- CAGAGAAGCTCCTGAATGTTGCTC -3'
Posted On 2019-10-07