Incidental Mutation 'R6375:Snx3'
Institutional Source Beutler Lab
Gene Symbol Snx3
Ensembl Gene ENSMUSG00000019804
Gene Namesorting nexin 3
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6375 (G1)
Quality Score225.009
Status Validated
Chromosomal Location42502030-42535381 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 42534731 bp
Amino Acid Change Tyrosine to Stop codon at position 132 (Y132*)
Ref Sequence ENSEMBL: ENSMUSP00000101139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019939] [ENSMUST00000105499] [ENSMUST00000105500]
Predicted Effect probably null
Transcript: ENSMUST00000019939
AA Change: Y154*
SMART Domains Protein: ENSMUSP00000019939
Gene: ENSMUSG00000019804
AA Change: Y154*

PX 26 148 9.8e-34 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105499
AA Change: Y122*
SMART Domains Protein: ENSMUSP00000101138
Gene: ENSMUSG00000019804
AA Change: Y122*

PX 26 116 3.08e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105500
AA Change: Y132*
SMART Domains Protein: ENSMUSP00000101139
Gene: ENSMUSG00000019804
AA Change: Y132*

PX 3 126 1.85e-20 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
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 protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,387,562 I797N possibly damaging Het
Actbl2 A G 13: 111,255,944 E271G probably damaging Het
Aplp2 T C 9: 31,157,788 N526D probably benign Het
Cacna1e A C 1: 154,479,305 N389K probably damaging Het
Ccdc18 T C 5: 108,174,954 I640T possibly damaging Het
Ccdc39 T A 3: 33,814,367 T857S probably benign Het
Ccser1 T A 6: 61,311,168 L105* probably null Het
Efhc1 T A 1: 20,972,940 M361K probably benign Het
Eml5 T C 12: 98,798,868 Het
Fgfr2 C A 7: 130,167,745 L637F probably damaging Het
Fmo9 A G 1: 166,664,595 probably null Het
Gm4302 A G 10: 100,341,396 T181A probably benign Het
Gpat2 G C 2: 127,431,918 G294R possibly damaging Het
Hoxb4 A G 11: 96,320,327 *251W probably null Het
Il1r1 T A 1: 40,294,890 Y207N probably damaging Het
Kcnc2 C T 10: 112,463,189 T622M possibly damaging Het
Kcnk9 C T 15: 72,546,243 A13T probably benign Het
Kdm4c C T 4: 74,330,715 P69S probably damaging Het
Kmt2e T C 5: 23,499,519 S1237P probably benign Het
Lrrc37a G A 11: 103,501,089 T1170I probably benign Het
Lyn T A 4: 3,745,527 F109I probably damaging Het
Lynx1 T C 15: 74,751,319 Y88C probably damaging Het
Mon1b T A 8: 113,638,077 I162N probably damaging Het
Muc4 A G 16: 32,736,243 probably benign Het
Nbn T A 4: 15,979,327 F437L probably benign Het
Neil3 T C 8: 53,587,276 K564E possibly damaging Het
Nfe2l1 A T 11: 96,820,051 S293T probably damaging Het
Olfr121 T A 17: 37,752,099 S82T probably benign Het
Olfr292 C T 7: 86,695,059 A201V probably benign Het
Olfr577 T C 7: 102,973,753 T80A probably damaging Het
Olfr706 C A 7: 106,886,014 A268S probably benign Het
Pcdhb22 A T 18: 37,518,304 probably benign Het
Pcdhgb6 A G 18: 37,742,625 N129D probably damaging Het
Pias2 C T 18: 77,152,670 T574M possibly damaging Het
Plec G A 15: 76,177,640 T2564I probably damaging Het
Qrich2 A G 11: 116,458,228 probably benign Het
Scgb1b12 T A 7: 32,334,459 V48E probably damaging Het
Scn5a A T 9: 119,543,356 L224Q probably damaging Het
Stk39 T A 2: 68,392,238 I161F probably benign Het
Tcaf2 A C 6: 42,626,178 L816R probably damaging Het
Thap4 C A 1: 93,725,156 probably null Het
Tmc5 T A 7: 118,656,814 V704E probably damaging Het
Tmem39a A G 16: 38,585,237 T59A probably benign Het
Tshz2 A G 2: 169,886,019 N376S probably damaging Het
Vmn1r60 T C 7: 5,545,018 N28D probably damaging Het
Zfp637 C T 6: 117,845,324 R138W probably damaging Het
Other mutations in Snx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02904:Snx3 APN 10 42534694 missense probably damaging 1.00
sorta UTSW 10 42534731 nonsense probably null
R0574:Snx3 UTSW 10 42502387 missense probably benign 0.00
R0582:Snx3 UTSW 10 42533280 splice site probably benign
R6112:Snx3 UTSW 10 42526046 missense probably benign 0.12
R6563:Snx3 UTSW 10 42526036 missense possibly damaging 0.54
R7978:Snx3 UTSW 10 42502350 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-05-04