Incidental Mutation 'R0574:Snx3'
ID 46579
Institutional Source Beutler Lab
Gene Symbol Snx3
Ensembl Gene ENSMUSG00000019804
Gene Name sorting nexin 3
Synonyms SDP3
MMRRC Submission 038764-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0574 (G1)
Quality Score 139
Status Validated
Chromosome 10
Chromosomal Location 42378050-42411365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42378383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 19 (N19K)
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 benign
Transcript: ENSMUST00000019939
AA Change: N19K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019939
Gene: ENSMUSG00000019804
AA Change: N19K

DomainStartEndE-ValueType
PX 26 148 9.8e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105499
AA Change: N19K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101138
Gene: ENSMUSG00000019804
AA Change: N19K

DomainStartEndE-ValueType
PX 26 116 3.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105500
AA Change: N19K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101139
Gene: ENSMUSG00000019804
AA Change: N19K

DomainStartEndE-ValueType
PX 3 126 1.85e-20 SMART
Meta Mutation Damage Score 0.0984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 100% (34/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700099C18Rik T C 17: 95,068,919 (GRCm39) noncoding transcript Het
Abca14 A G 7: 119,823,720 (GRCm39) I416V probably damaging Het
Actrt3 T C 3: 30,653,829 (GRCm39) E57G probably benign Het
Adamts5 A G 16: 85,696,372 (GRCm39) S262P probably damaging Het
Aldh1a2 T C 9: 71,188,990 (GRCm39) probably null Het
Arhgap29 A G 3: 121,801,274 (GRCm39) I670V probably benign Het
Bptf T C 11: 106,967,353 (GRCm39) D1009G probably damaging Het
Ddr2 G T 1: 169,809,532 (GRCm39) probably benign Het
Ift140 T A 17: 25,270,734 (GRCm39) probably null Het
Itga1 A C 13: 115,103,097 (GRCm39) S1111R probably damaging Het
Klk1b27 T A 7: 43,705,525 (GRCm39) L199Q probably damaging Het
Lhx3 T C 2: 26,091,323 (GRCm39) S329G probably benign Het
Man2b1 T G 8: 85,823,405 (GRCm39) M913R probably benign Het
Mmp15 G A 8: 96,092,029 (GRCm39) A80T possibly damaging Het
Mpo A T 11: 87,686,902 (GRCm39) Y177F probably damaging Het
Mynn T C 3: 30,670,888 (GRCm39) S587P probably benign Het
Nfkbib C T 7: 28,461,213 (GRCm39) V145I probably benign Het
Or1o3 G T 17: 37,573,772 (GRCm39) S261Y probably damaging Het
Or4k15 A T 14: 50,364,139 (GRCm39) Y35F probably damaging Het
Or6k8-ps1 T C 1: 173,979,132 (GRCm39) F17L probably benign Het
Pole2 G A 12: 69,258,231 (GRCm39) probably benign Het
Ppargc1b C T 18: 61,435,810 (GRCm39) G906D probably benign Het
Prl8a2 T A 13: 27,532,883 (GRCm39) C32S probably damaging Het
Rhno1 A T 6: 128,335,113 (GRCm39) probably null Het
Rprd2 T C 3: 95,681,669 (GRCm39) E408G possibly damaging Het
Ryr2 T A 13: 11,746,555 (GRCm39) H1999L probably benign Het
Shprh T C 10: 11,038,821 (GRCm39) probably benign Het
Stx8 C T 11: 67,864,078 (GRCm39) T46M probably damaging Het
Tbc1d17 A G 7: 44,492,547 (GRCm39) probably benign Het
Ush1c A G 7: 45,846,228 (GRCm39) S855P possibly damaging Het
Usp54 A G 14: 20,606,322 (GRCm39) V1338A probably benign Het
Vmn1r214 A G 13: 23,218,663 (GRCm39) I52M probably benign Het
Other mutations in Snx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02904:Snx3 APN 10 42,410,690 (GRCm39) missense probably damaging 1.00
sorta UTSW 10 42,410,727 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- CTCGCCCGAGGCATTGTGGTTATTG -3'
(R):5'- TTCCAGCACCTTCTACCGGAGCCAG -3'

Sequencing Primer
(F):5'- CTGTTTCTCCCTGGGCAGAG -3'
(R):5'- TGGTCCCCATACAAACTGTC -3'
Posted On 2013-06-11