Incidental Mutation 'R6263:Snx9'
ID 506849
Institutional Source Beutler Lab
Gene Symbol Snx9
Ensembl Gene ENSMUSG00000002365
Gene Name sorting nexin 9
Synonyms SH3PX1, SDP1
MMRRC Submission 044437-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R6263 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 5891604-5982229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5937324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
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: V22A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V22A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231803
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,995,641 (GRCm39) I5642V probably benign Het
Atp5f1a A G 18: 77,866,930 (GRCm39) probably null Het
Bltp1 T A 3: 36,985,260 (GRCm39) N863K probably benign Het
Bsn A T 9: 107,990,453 (GRCm39) F1766L probably damaging Het
Ccdc141 T C 2: 76,938,807 (GRCm39) Q266R probably damaging Het
Cdh10 T A 15: 18,964,154 (GRCm39) D105E possibly damaging Het
Clca3a1 T A 3: 144,455,539 (GRCm39) D418V probably damaging Het
Cnnm2 C A 19: 46,845,344 (GRCm39) T612K probably benign Het
Col3a1 T C 1: 45,360,735 (GRCm39) V55A unknown Het
Cpd A C 11: 76,737,097 (GRCm39) D232E probably benign Het
Csde1 A G 3: 102,947,333 (GRCm39) H95R probably benign Het
Ctcfl T A 2: 172,937,130 (GRCm39) H596L probably benign Het
Cwc22 T C 2: 77,726,515 (GRCm39) R855G possibly damaging Het
Cwc25 A G 11: 97,644,053 (GRCm39) Y227H probably damaging Het
Cyp2c38 G A 19: 39,380,659 (GRCm39) P409S probably damaging Het
Ddx5 A G 11: 106,679,139 (GRCm39) S2P possibly damaging Het
Dnah2 C A 11: 69,348,238 (GRCm39) G2570W probably damaging Het
Dnajc10 T A 2: 80,174,292 (GRCm39) V528E probably damaging Het
Efcab3 G A 11: 104,810,312 (GRCm39) D3150N unknown Het
Fmo1 A G 1: 162,677,629 (GRCm39) probably null Het
Gpatch1 C A 7: 35,002,848 (GRCm39) D221Y probably damaging Het
Ino80 T C 2: 119,213,895 (GRCm39) Y1225C probably damaging Het
Itga7 T A 10: 128,779,955 (GRCm39) D501E probably benign Het
Lgr4 T C 2: 109,842,243 (GRCm39) S743P possibly damaging Het
Lilra5 A T 7: 4,241,360 (GRCm39) Y99F probably damaging Het
Lmna A G 3: 88,410,265 (GRCm39) V49A probably damaging Het
Lrrc72 G A 12: 36,258,603 (GRCm39) R267* probably null Het
Mapkbp1 T C 2: 119,853,772 (GRCm39) S1199P probably damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Myh10 A T 11: 68,701,058 (GRCm39) N1756Y probably damaging Het
Nfe2 A G 15: 103,159,378 (GRCm39) I31T probably damaging Het
Nfe2l1 A T 11: 96,708,570 (GRCm39) F732I probably benign Het
Or4a39 C G 2: 89,237,074 (GRCm39) M116I possibly damaging Het
Or4c12b T A 2: 89,647,104 (GRCm39) C145S probably damaging Het
Or52e19b C A 7: 103,032,403 (GRCm39) V269F possibly damaging Het
Pax6 T C 2: 105,523,199 (GRCm39) probably null Het
Phb1 A G 11: 95,568,941 (GRCm39) E192G probably damaging Het
Plekhn1 A T 4: 156,309,650 (GRCm39) probably null Het
Plxnb2 A T 15: 89,046,189 (GRCm39) V942E probably damaging Het
Potegl T A 2: 23,156,745 (GRCm39) probably benign Het
Rsrc2 G A 5: 123,877,751 (GRCm39) probably benign Het
Septin8 G A 11: 53,439,210 (GRCm39) C460Y probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,130,508 (GRCm39) I59T probably benign Het
Slc35d1 A T 4: 103,065,365 (GRCm39) I172N possibly damaging Het
Smg5 A T 3: 88,249,208 (GRCm39) N40Y possibly damaging Het
Smurf1 A G 5: 144,818,541 (GRCm39) V633A probably damaging Het
Sox6 A T 7: 115,076,295 (GRCm39) M741K probably damaging Het
Spata31d1d T C 13: 59,873,797 (GRCm39) Q1246R probably benign Het
Sval1 A G 6: 41,928,660 (GRCm39) E24G probably damaging Het
Tas2r124 A G 6: 132,731,867 (GRCm39) I59V probably benign Het
Tmem151b T A 17: 45,857,992 (GRCm39) T85S probably benign Het
Tpr T A 1: 150,317,996 (GRCm39) probably null Het
Trpm6 A C 19: 18,831,472 (GRCm39) T1446P possibly damaging Het
Tsc22d4 A T 5: 137,766,441 (GRCm39) K502N possibly damaging Het
Tssk3 C T 4: 129,383,051 (GRCm39) S207N probably benign Het
Ttbk1 G T 17: 46,778,188 (GRCm39) P618Q probably damaging Het
Ttll6 A T 11: 96,047,371 (GRCm39) M657L probably benign Het
Ubash3a T A 17: 31,434,069 (GRCm39) I138N probably benign Het
Ush2a A G 1: 188,090,839 (GRCm39) Y490C probably damaging Het
Vmn1r82 G T 7: 12,039,461 (GRCm39) V127F probably damaging Het
Vmn2r32 A T 7: 7,479,691 (GRCm39) S161T possibly damaging Het
Wdr49 T C 3: 75,388,824 (GRCm39) I58M possibly damaging Het
Wiz A T 17: 32,579,417 (GRCm39) probably null Het
Wrap53 A T 11: 69,453,619 (GRCm39) Y324* probably null Het
Zfp747 A C 7: 126,975,138 (GRCm39) probably benign Het
Zfp827 A G 8: 79,905,702 (GRCm39) Y33C probably damaging Het
Other mutations in Snx9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Snx9 APN 17 5,949,636 (GRCm39) missense probably benign
IGL00417:Snx9 APN 17 5,942,172 (GRCm39) missense probably benign 0.03
IGL01827:Snx9 APN 17 5,937,287 (GRCm39) missense probably benign 0.04
IGL02531:Snx9 APN 17 5,942,095 (GRCm39) missense probably benign
IGL02710:Snx9 APN 17 5,958,873 (GRCm39) missense probably damaging 1.00
IGL03088:Snx9 APN 17 5,974,885 (GRCm39) missense probably benign
san_angelo UTSW 17 5,942,084 (GRCm39) nonsense probably null
PIT4495001:Snx9 UTSW 17 5,970,401 (GRCm39) missense possibly damaging 0.54
R0555:Snx9 UTSW 17 5,968,688 (GRCm39) missense probably damaging 0.97
R1015:Snx9 UTSW 17 5,970,402 (GRCm39) missense probably benign 0.12
R1065:Snx9 UTSW 17 5,952,636 (GRCm39) splice site probably benign
R1421:Snx9 UTSW 17 5,952,759 (GRCm39) missense probably benign 0.45
R1657:Snx9 UTSW 17 5,968,711 (GRCm39) missense possibly damaging 0.65
R1823:Snx9 UTSW 17 5,970,946 (GRCm39) missense probably damaging 1.00
R1914:Snx9 UTSW 17 5,978,531 (GRCm39) missense possibly damaging 0.65
R3703:Snx9 UTSW 17 5,978,475 (GRCm39) splice site probably null
R3871:Snx9 UTSW 17 5,942,056 (GRCm39) missense probably benign 0.00
R4375:Snx9 UTSW 17 5,958,901 (GRCm39) nonsense probably null
R4412:Snx9 UTSW 17 5,958,669 (GRCm39) missense probably damaging 0.96
R4669:Snx9 UTSW 17 5,977,499 (GRCm39) missense probably damaging 1.00
R4974:Snx9 UTSW 17 5,952,794 (GRCm39) splice site probably null
R5038:Snx9 UTSW 17 5,937,348 (GRCm39) missense probably benign 0.12
R5137:Snx9 UTSW 17 5,978,528 (GRCm39) missense probably damaging 1.00
R5369:Snx9 UTSW 17 5,970,855 (GRCm39) missense probably damaging 1.00
R5459:Snx9 UTSW 17 5,970,913 (GRCm39) missense probably damaging 0.99
R5624:Snx9 UTSW 17 5,942,084 (GRCm39) nonsense probably null
R5847:Snx9 UTSW 17 5,974,896 (GRCm39) missense possibly damaging 0.94
R5953:Snx9 UTSW 17 5,958,678 (GRCm39) missense probably damaging 1.00
R5953:Snx9 UTSW 17 5,958,677 (GRCm39) missense probably damaging 1.00
R6481:Snx9 UTSW 17 5,972,484 (GRCm39) critical splice donor site probably null
R6491:Snx9 UTSW 17 5,970,437 (GRCm39) missense probably benign 0.00
R7873:Snx9 UTSW 17 5,968,751 (GRCm39) missense possibly damaging 0.81
R8471:Snx9 UTSW 17 5,940,365 (GRCm39) missense probably damaging 1.00
R9451:Snx9 UTSW 17 5,949,768 (GRCm39) missense probably damaging 0.99
R9748:Snx9 UTSW 17 5,949,670 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTGAAGGAGCTAGGTGTCC -3'
(R):5'- GCTGAACTTCTCTAGGTGTGC -3'

Sequencing Primer
(F):5'- AGCTAGGTGTCCTGAACTGTCTC -3'
(R):5'- CATGTGACAGCTTCTTGTAGCATCAG -3'
Posted On 2018-03-15