Incidental Mutation 'R8471:Snx9'
ID 657044
Institutional Source Beutler Lab
Gene Symbol Snx9
Ensembl Gene ENSMUSG00000002365
Gene Name sorting nexin 9
Synonyms SH3PX1, SDP1
MMRRC Submission 067915-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R8471 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 5841329-5931954 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5890090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 39 (W39R)
Ref Sequence ENSEMBL: ENSMUSP00000002436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002436]
AlphaFold Q91VH2
PDB Structure Solution structure of the SH3 domain from mouse sorting nexin-9 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000002436
AA Change: W39R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: W39R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (36/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,383,064 C200S probably damaging Het
Abca1 G A 4: 53,044,187 H1812Y probably damaging Het
Adgrv1 T A 13: 81,446,472 D4141V probably benign Het
Arhgef38 A T 3: 133,234,711 V38E probably damaging Het
Arl15 T A 13: 113,901,096 probably benign Het
Cwh43 T A 5: 73,434,301 L493Q probably damaging Het
Dnah7b C T 1: 46,099,490 H231Y possibly damaging Het
Eif2d C A 1: 131,164,418 Q309K probably benign Het
Epop A G 11: 97,629,247 V12A possibly damaging Het
Fkbp5 C T 17: 28,415,969 V189I probably benign Het
Ikzf2 T C 1: 69,539,340 M343V probably benign Het
Kdm5a T A 6: 120,430,231 L1469* probably null Het
Man2b2 A T 5: 36,821,839 W286R probably damaging Het
Naip5 G T 13: 100,221,645 Q1028K probably damaging Het
Nlrp1a T A 11: 71,123,059 D455V possibly damaging Het
Olfr1130 A G 2: 87,607,645 R86G probably damaging Het
Olfr312 A G 11: 58,831,771 M206V probably benign Het
Olfr392 A T 11: 73,814,483 F200I probably benign Het
Olfr977-ps1 A G 9: 39,974,605 S73P unknown Het
Pcdh12 G A 18: 38,282,255 P606S probably benign Het
Plec A G 15: 76,186,420 V894A probably damaging Het
Ppp4r3a T C 12: 101,055,642 N333S probably benign Het
Ptger4 A T 15: 5,242,319 M273K probably damaging Het
Pzp T C 6: 128,487,448 D1372G probably benign Het
Rai14 T C 15: 10,575,159 K571R probably benign Het
Rarb T A 14: 16,548,456 probably benign Het
Ros1 A G 10: 52,120,982 V1198A probably benign Het
Ryr3 A G 2: 112,653,780 V3879A probably damaging Het
Serpinb6d A T 13: 33,664,154 I34F probably damaging Het
Slc44a2 T G 9: 21,341,969 I62S probably null Het
Tbcb A T 7: 30,231,675 S7T probably benign Het
Ttc21a C A 9: 119,963,176 probably null Het
Ttc7 G A 17: 87,294,026 G63R probably benign Het
Zdhhc3 A T 9: 123,100,375 V65D probably damaging Het
Zfp518b T C 5: 38,674,083 Y193C probably damaging Het
Zw10 T A 9: 49,071,614 I515N probably damaging 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
IGL02710:Snx9 APN 17 5908598 missense probably damaging 1.00
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
R9451:Snx9 UTSW 17 5899493 missense probably damaging 0.99
R9748:Snx9 UTSW 17 5899395 missense probably benign
Predicted Primers PCR Primer
(F):5'- CACTTCTTGGAGCTCAGTGTG -3'
(R):5'- ACCAACTACTTTCCCATTGAAGTTC -3'

Sequencing Primer
(F):5'- AGCTCAGTGTGTCTTGTTAGAATAG -3'
(R):5'- AGTTCTTCTTTTAAGACAGTTGCTG -3'
Posted On 2021-01-18