Incidental Mutation 'R1725:Snx1'
ID 198080
Institutional Source Beutler Lab
Gene Symbol Snx1
Ensembl Gene ENSMUSG00000032382
Gene Name sorting nexin 1
Synonyms
MMRRC Submission 039757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1725 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 65995409-66032168 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 66005611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542] [ENSMUST00000137542]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000034946
SMART Domains Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382

DomainStartEndE-ValueType
Pfam:Sorting_nexin 10 137 2.6e-29 PFAM
PX 140 267 7.59e-40 SMART
Pfam:Vps5 283 516 3.2e-86 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137542
SMART Domains Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382

DomainStartEndE-ValueType
Pfam:Sorting_nexin 3 89 6.9e-25 PFAM
PX 92 192 2.37e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000137542
SMART Domains Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382

DomainStartEndE-ValueType
Pfam:Sorting_nexin 3 89 6.9e-25 PFAM
PX 92 192 2.37e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143148
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,163 (GRCm39) F109L probably benign Het
Aacs T C 5: 125,559,999 (GRCm39) probably null Het
Abcc6 C A 7: 45,641,781 (GRCm39) D866Y possibly damaging Het
Acox3 T C 5: 35,749,516 (GRCm39) Y214H probably benign Het
Acss2 A G 2: 155,398,764 (GRCm39) T404A possibly damaging Het
Adgrb3 T A 1: 25,865,381 (GRCm39) E154V probably damaging Het
Akap12 G A 10: 4,303,942 (GRCm39) V251M probably damaging Het
Ambp A T 4: 63,062,513 (GRCm39) M242K possibly damaging Het
Angptl7 T G 4: 148,584,469 (GRCm39) Y93S probably damaging Het
Apof A G 10: 128,105,680 (GRCm39) probably benign Het
Arv1 T C 8: 125,455,191 (GRCm39) F135L probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cacna1s C T 1: 136,026,361 (GRCm39) T1116I probably damaging Het
Ccdc91 A G 6: 147,493,541 (GRCm39) E311G unknown Het
Cenpf T C 1: 189,412,676 (GRCm39) T196A probably damaging Het
Chd8 A T 14: 52,470,030 (GRCm39) S527T probably benign Het
Csmd3 A C 15: 47,460,203 (GRCm39) N3529K probably damaging Het
Csnk2a1 T C 2: 152,099,892 (GRCm39) V116A probably damaging Het
Dhx36 T G 3: 62,414,360 (GRCm39) M1L probably benign Het
Diaph3 A G 14: 87,203,759 (GRCm39) probably null Het
Ephb2 G A 4: 136,387,089 (GRCm39) Q714* probably null Het
Eprs1 T A 1: 185,139,189 (GRCm39) L858Q probably damaging Het
Espl1 G T 15: 102,221,656 (GRCm39) V982L probably benign Het
Eya2 A G 2: 165,566,605 (GRCm39) T219A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl18 C T 5: 142,872,458 (GRCm39) R259H probably damaging Het
Gcc2 G A 10: 58,139,937 (GRCm39) R1629H possibly damaging Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Krt6a A T 15: 101,600,992 (GRCm39) M268K probably damaging Het
Loxhd1 T A 18: 77,380,937 (GRCm39) S85T probably benign Het
Loxl3 G A 6: 83,012,574 (GRCm39) V38I probably benign Het
Mill2 A G 7: 18,573,993 (GRCm39) D26G probably benign Het
Muc15 T C 2: 110,561,591 (GRCm39) L9S probably damaging Het
Nat8f4 G A 6: 85,878,080 (GRCm39) R148* probably null Het
Nav3 A T 10: 109,659,451 (GRCm39) V722E probably damaging Het
Nfkb1 C A 3: 135,373,519 (GRCm39) G10W probably damaging Het
Or10j5 C T 1: 172,784,908 (GRCm39) P182L possibly damaging Het
Or2ag1 A T 7: 106,313,265 (GRCm39) F208I probably benign Het
Or2t1 T G 14: 14,328,977 (GRCm38) Y289D probably damaging Het
Or5b120 T C 19: 13,479,883 (GRCm39) Y59H probably damaging Het
Pcdhb22 T A 18: 37,653,241 (GRCm39) C313S probably benign Het
Plin4 A G 17: 56,413,473 (GRCm39) L384P probably damaging Het
Pm20d1 T C 1: 131,743,796 (GRCm39) I487T probably damaging Het
Prex1 A T 2: 166,443,656 (GRCm39) D334E probably damaging Het
Psg28 A T 7: 18,161,936 (GRCm39) I189N possibly damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rae1 A G 2: 172,848,754 (GRCm39) I123M possibly damaging Het
Sh3glb2 C A 2: 30,240,679 (GRCm39) E129* probably null Het
Simc1 T C 13: 54,674,219 (GRCm39) S856P probably damaging Het
Slc19a1 T A 10: 76,877,672 (GRCm39) M69K probably benign Het
Slc30a8 A T 15: 52,197,000 (GRCm39) I304F possibly damaging Het
Spmip5 T G 19: 58,781,194 (GRCm39) K10T probably benign Het
Stx18 G A 5: 38,292,599 (GRCm39) V234M probably damaging Het
Sulf2 T C 2: 165,923,281 (GRCm39) T615A probably damaging Het
Sult3a2 T A 10: 33,655,705 (GRCm39) K91N probably benign Het
Tet1 A G 10: 62,650,256 (GRCm39) S22P probably damaging Het
Tmc3 T C 7: 83,253,940 (GRCm39) V362A probably damaging Het
Trim16 A C 11: 62,711,331 (GRCm39) M1L possibly damaging Het
Trp53bp1 C T 2: 121,082,481 (GRCm39) V10I possibly damaging Het
Ttc12 T G 9: 49,369,415 (GRCm39) D235A probably benign Het
Ttn T C 2: 76,692,727 (GRCm39) R452G possibly damaging Het
Ugt2b38 A T 5: 87,559,730 (GRCm39) H387Q probably damaging Het
Usp48 T A 4: 137,360,733 (GRCm39) L20* probably null Het
Utrn T C 10: 12,539,263 (GRCm39) D1918G probably damaging Het
Vmn1r158 A G 7: 22,490,072 (GRCm39) S46P probably benign Het
Vmn2r97 T A 17: 19,149,397 (GRCm39) W262R probably benign Het
Vps13d A T 4: 144,869,830 (GRCm39) S1917T possibly damaging Het
Vsx1 T C 2: 150,528,120 (GRCm39) N158D probably benign Het
Vwf G A 6: 125,623,245 (GRCm39) V1781I probably benign Het
Wrap73 T C 4: 154,233,209 (GRCm39) Y128H possibly damaging Het
Zfp472 A G 17: 33,196,311 (GRCm39) K129E possibly damaging Het
Zscan18 A T 7: 12,504,784 (GRCm39) L611Q probably damaging Het
Other mutations in Snx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Snx1 APN 9 65,996,867 (GRCm39) nonsense probably null
IGL01015:Snx1 APN 9 66,001,713 (GRCm39) missense possibly damaging 0.72
IGL02070:Snx1 APN 9 66,005,731 (GRCm39) missense probably damaging 0.97
IGL02225:Snx1 APN 9 66,016,903 (GRCm39) missense probably benign 0.03
IGL02984:Snx1 APN 9 65,996,390 (GRCm39) splice site probably benign
IGL03069:Snx1 APN 9 66,001,906 (GRCm39) missense probably benign
IGL03188:Snx1 APN 9 66,001,734 (GRCm39) missense probably damaging 1.00
FR4589:Snx1 UTSW 9 66,012,208 (GRCm39) small insertion probably benign
FR4976:Snx1 UTSW 9 66,012,212 (GRCm39) small insertion probably benign
FR4976:Snx1 UTSW 9 66,012,211 (GRCm39) small insertion probably benign
R0116:Snx1 UTSW 9 65,995,821 (GRCm39) nonsense probably null
R0243:Snx1 UTSW 9 66,008,608 (GRCm39) splice site probably benign
R0755:Snx1 UTSW 9 66,005,738 (GRCm39) missense probably damaging 1.00
R0981:Snx1 UTSW 9 66,016,841 (GRCm39) missense probably benign
R1495:Snx1 UTSW 9 66,003,879 (GRCm39) missense probably benign 0.23
R1528:Snx1 UTSW 9 66,016,825 (GRCm39) missense probably damaging 1.00
R3752:Snx1 UTSW 9 66,012,933 (GRCm39) splice site probably null
R4487:Snx1 UTSW 9 65,996,877 (GRCm39) missense possibly damaging 0.90
R4778:Snx1 UTSW 9 66,008,698 (GRCm39) intron probably benign
R4975:Snx1 UTSW 9 66,012,187 (GRCm39) nonsense probably null
R5043:Snx1 UTSW 9 66,004,718 (GRCm39) missense probably benign 0.04
R6346:Snx1 UTSW 9 66,001,930 (GRCm39) missense possibly damaging 0.62
R8063:Snx1 UTSW 9 66,004,676 (GRCm39) unclassified probably benign
R9679:Snx1 UTSW 9 65,998,002 (GRCm39) missense probably benign 0.14
RF045:Snx1 UTSW 9 66,012,204 (GRCm39) small insertion probably benign
T0722:Snx1 UTSW 9 66,012,209 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CGTTCCTCCCCTAATTCCCTAAGCAA -3'
(R):5'- CCCAAGACAAGCTTACCGATGTTCA -3'

Sequencing Primer
(F):5'- gcacagctcagtggtagtttc -3'
(R):5'- CTTACCGATGTTCAGAAGTAGGC -3'
Posted On 2014-05-23