Incidental Mutation 'IGL02904:Snx3'
ID 363747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx3
Ensembl Gene ENSMUSG00000019804
Gene Name sorting nexin 3
Synonyms SDP3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02904
Quality Score
Status
Chromosome 10
Chromosomal Location 42378050-42411365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42410690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 110 (H110R)
Ref Sequence ENSEMBL: ENSMUSP00000101138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019939] [ENSMUST00000105499] [ENSMUST00000105500]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019939
AA Change: H142R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019939
Gene: ENSMUSG00000019804
AA Change: H142R

DomainStartEndE-ValueType
PX 26 148 9.8e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105499
AA Change: H110R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101138
Gene: ENSMUSG00000019804
AA Change: H110R

DomainStartEndE-ValueType
PX 26 116 3.08e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105500
AA Change: H120R

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101139
Gene: ENSMUSG00000019804
AA Change: H120R

DomainStartEndE-ValueType
PX 3 126 1.85e-20 SMART
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. 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
B3galt1 T A 2: 67,949,089 (GRCm39) V268E probably damaging Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Ddx17 G A 15: 79,414,638 (GRCm39) R510* probably null Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlgn2 T C 11: 69,716,666 (GRCm39) Y625C possibly damaging Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Nudt12 T A 17: 59,317,347 (GRCm39) N100I probably benign Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
St3gal5 A T 6: 72,124,108 (GRCm39) I212L possibly damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trappc14 C T 5: 138,258,864 (GRCm39) V232I probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) probably benign Het
Other mutations in Snx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
sorta UTSW 10 42,410,727 (GRCm39) nonsense probably null
R0574:Snx3 UTSW 10 42,378,383 (GRCm39) missense probably benign 0.00
R0582:Snx3 UTSW 10 42,409,276 (GRCm39) splice site probably benign
R6112:Snx3 UTSW 10 42,402,042 (GRCm39) missense probably benign 0.12
R6375:Snx3 UTSW 10 42,410,727 (GRCm39) nonsense probably null
R6563:Snx3 UTSW 10 42,402,032 (GRCm39) missense possibly damaging 0.54
R7978:Snx3 UTSW 10 42,378,346 (GRCm39) missense probably benign
Posted On 2015-12-18