Incidental Mutation 'IGL00823:Snx5'
ID 14180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx5
Ensembl Gene ENSMUSG00000027423
Gene Name sorting nexin 5
Synonyms 0910001N05Rik, D2Ertd52e, 1810032P22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # IGL00823
Quality Score
Status
Chromosome 2
Chromosomal Location 144092043-144112713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144097485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 217 (I217V)
Ref Sequence ENSEMBL: ENSMUSP00000105657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028909] [ENSMUST00000110030]
AlphaFold Q9D8U8
Predicted Effect probably benign
Transcript: ENSMUST00000028909
AA Change: I217V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028909
Gene: ENSMUSG00000027423
AA Change: I217V

DomainStartEndE-ValueType
PX 31 169 1.85e-2 SMART
Pfam:Vps5 179 398 6.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110030
AA Change: I217V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105657
Gene: ENSMUSG00000027423
AA Change: I217V

DomainStartEndE-ValueType
PX 31 169 1.85e-2 SMART
Pfam:Vps5 179 398 1.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156936
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 functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired alveolar epithelial differentiation of type I cells, respiratory failure and lethality during the perinatal and postnatal periods. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Atg5 A G 10: 44,239,040 (GRCm39) T274A probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lgmn T C 12: 102,364,435 (GRCm39) probably benign Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Pah A G 10: 87,406,193 (GRCm39) Y174C probably null Het
Rbbp5 G A 1: 132,417,444 (GRCm39) V88I probably damaging Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Tspan2 T C 3: 102,665,549 (GRCm39) probably null Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Snx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Snx5 APN 2 144,112,325 (GRCm39) missense probably benign 0.00
IGL03394:Snx5 APN 2 144,095,674 (GRCm39) missense probably damaging 1.00
R0052:Snx5 UTSW 2 144,101,112 (GRCm39) splice site probably null
R0052:Snx5 UTSW 2 144,101,112 (GRCm39) splice site probably null
R0344:Snx5 UTSW 2 144,099,128 (GRCm39) splice site probably benign
R0848:Snx5 UTSW 2 144,095,726 (GRCm39) missense probably damaging 0.98
R1440:Snx5 UTSW 2 144,096,731 (GRCm39) missense possibly damaging 0.90
R2282:Snx5 UTSW 2 144,095,595 (GRCm39) missense probably benign 0.03
R3830:Snx5 UTSW 2 144,096,821 (GRCm39) critical splice donor site probably null
R5727:Snx5 UTSW 2 144,102,674 (GRCm39) missense probably benign 0.00
R6048:Snx5 UTSW 2 144,101,073 (GRCm39) missense probably damaging 0.97
R7497:Snx5 UTSW 2 144,099,894 (GRCm39) missense probably damaging 0.99
R7664:Snx5 UTSW 2 144,099,924 (GRCm39) splice site probably null
R7895:Snx5 UTSW 2 144,095,740 (GRCm39) missense possibly damaging 0.90
R8098:Snx5 UTSW 2 144,097,482 (GRCm39) missense probably benign 0.00
R8745:Snx5 UTSW 2 144,103,932 (GRCm39) missense probably benign 0.00
R9745:Snx5 UTSW 2 144,096,716 (GRCm39) missense probably benign 0.25
Z1088:Snx5 UTSW 2 144,094,411 (GRCm39) missense probably benign 0.29
Z1177:Snx5 UTSW 2 144,100,999 (GRCm39) nonsense probably null
Posted On 2012-12-06