Incidental Mutation 'IGL02710:Snx9'
ID304518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx9
Ensembl Gene ENSMUSG00000002365
Gene Namesorting nexin 9
SynonymsSH3PX1, SDP1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.746) question?
Stock #IGL02710
Quality Score
Status
Chromosome17
Chromosomal Location5841329-5931954 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5908598 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 283 (V283A)
Ref Sequence ENSEMBL: ENSMUSP00000002436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002436]
PDB Structure
Solution structure of the SH3 domain from mouse sorting nexin-9 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000002436
AA Change: V283A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V283A

DomainStartEndE-ValueType
SH3 3 61 1.51e-16 SMART
low complexity region 84 100 N/A INTRINSIC
low complexity region 160 170 N/A INTRINSIC
PX 247 357 4.15e-23 SMART
Pfam:BAR_3_WASP_bdg 358 593 2.4e-120 PFAM
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 phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 T G 1: 58,334,769 probably null Het
Col18a1 G A 10: 77,113,312 A122V possibly damaging Het
Dtnb T A 12: 3,648,380 H289Q possibly damaging Het
Fat4 A T 3: 38,890,595 K1212N probably damaging Het
Gm10392 T C 11: 77,518,468 H44R possibly damaging Het
Herc2 G A 7: 56,137,814 A1740T possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Knl1 A C 2: 119,070,930 E1037D probably damaging Het
Lsg1 A T 16: 30,571,474 D274E probably benign Het
Msantd3 A G 4: 48,552,686 K92E probably damaging Het
Nap1l4 G A 7: 143,524,261 T312I probably benign Het
Nlrp3 A G 11: 59,565,976 E988G probably damaging Het
Olfr744 C T 14: 50,618,798 T192I probably benign Het
Palm3 C T 8: 84,028,312 T151I possibly damaging Het
Pde1b T C 15: 103,522,057 W144R probably damaging Het
Piezo2 A G 18: 63,074,659 L1427P probably damaging Het
Rasal1 A T 5: 120,666,431 H456L possibly damaging Het
Sec16a C T 2: 26,430,130 G1432D possibly damaging Het
Shc1 A G 3: 89,424,610 probably null Het
Skint5 T A 4: 113,477,959 I1452F unknown Het
Slc35b4 C A 6: 34,158,541 V279L probably benign Het
Stra6l T C 4: 45,882,728 F480L possibly damaging Het
Stt3a A G 9: 36,758,745 Y132H probably damaging Het
Sv2c T A 13: 95,989,141 I363F probably damaging Het
Tnfrsf21 C T 17: 43,087,929 T642I probably damaging Het
Tubgcp2 G A 7: 140,004,984 probably benign Het
Usp47 A G 7: 112,092,925 N845D probably benign Het
Wdr20 A T 12: 110,793,110 probably benign Het
Wdr63 A T 3: 146,048,148 I719N possibly damaging Het
Zfp518b A G 5: 38,672,718 V648A probably damaging Het
Zfp687 A T 3: 95,008,773 S927T probably benign Het
Other mutations in Snx9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Snx9 APN 17 5899361 missense probably benign
IGL00417:Snx9 APN 17 5891897 missense probably benign 0.03
IGL01827:Snx9 APN 17 5887012 missense probably benign 0.04
IGL02531:Snx9 APN 17 5891820 missense probably benign
IGL03088:Snx9 APN 17 5924610 missense probably benign
san_angelo UTSW 17 5891809 nonsense probably null
PIT4495001:Snx9 UTSW 17 5920126 missense possibly damaging 0.54
R0555:Snx9 UTSW 17 5918413 missense probably damaging 0.97
R1015:Snx9 UTSW 17 5920127 missense probably benign 0.12
R1065:Snx9 UTSW 17 5902361 splice site probably benign
R1421:Snx9 UTSW 17 5902484 missense probably benign 0.45
R1657:Snx9 UTSW 17 5918436 missense possibly damaging 0.65
R1823:Snx9 UTSW 17 5920671 missense probably damaging 1.00
R1914:Snx9 UTSW 17 5928256 missense possibly damaging 0.65
R3703:Snx9 UTSW 17 5928200 splice site probably null
R3871:Snx9 UTSW 17 5891781 missense probably benign 0.00
R4375:Snx9 UTSW 17 5908626 nonsense probably null
R4412:Snx9 UTSW 17 5908394 missense probably damaging 0.96
R4669:Snx9 UTSW 17 5927224 missense probably damaging 1.00
R4974:Snx9 UTSW 17 5902519 splice site probably null
R5038:Snx9 UTSW 17 5887073 missense probably benign 0.12
R5137:Snx9 UTSW 17 5928253 missense probably damaging 1.00
R5369:Snx9 UTSW 17 5920580 missense probably damaging 1.00
R5459:Snx9 UTSW 17 5920638 missense probably damaging 0.99
R5624:Snx9 UTSW 17 5891809 nonsense probably null
R5847:Snx9 UTSW 17 5924621 missense possibly damaging 0.94
R5953:Snx9 UTSW 17 5908402 missense probably damaging 1.00
R5953:Snx9 UTSW 17 5908403 missense probably damaging 1.00
R6263:Snx9 UTSW 17 5887049 missense probably damaging 0.98
R6481:Snx9 UTSW 17 5922209 critical splice donor site probably null
R6491:Snx9 UTSW 17 5920162 missense probably benign 0.00
R7873:Snx9 UTSW 17 5918476 missense possibly damaging 0.81
Posted On2015-04-16