Incidental Mutation 'R5137:Snx9'
ID 396242
Institutional Source Beutler Lab
Gene Symbol Snx9
Ensembl Gene ENSMUSG00000002365
Gene Name sorting nexin 9
Synonyms SH3PX1, SDP1
MMRRC Submission 042723-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R5137 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 5891604-5982229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5978528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 566 (V566A)
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: V566A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V566A

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,123,920 (GRCm39) V75A probably benign Het
Ace G C 11: 105,865,652 (GRCm39) W628C probably damaging Het
Adh4 T C 3: 138,127,996 (GRCm39) S141P probably benign Het
Apob T C 12: 8,061,384 (GRCm39) Y3256H possibly damaging Het
B3galnt1 G T 3: 69,482,282 (GRCm39) N326K probably benign Het
Bltp3a T G 17: 28,095,964 (GRCm39) probably null Het
Catsperb T C 12: 101,516,070 (GRCm39) F569L probably damaging Het
Cecr2 A G 6: 120,732,478 (GRCm39) I225V probably benign Het
Cox5b A G 1: 36,731,510 (GRCm39) probably null Het
Crybg1 T C 10: 43,834,332 (GRCm39) D1953G probably damaging Het
Dnaaf5 C T 5: 139,167,215 (GRCm39) T707M probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ebf1 G A 11: 44,882,295 (GRCm39) R409Q probably damaging Het
Eef2k G A 7: 120,484,645 (GRCm39) A256T probably damaging Het
Eef2k C A 7: 120,484,646 (GRCm39) A256D probably damaging Het
Evl C G 12: 108,647,781 (GRCm39) T294S probably benign Het
Eya2 T C 2: 165,573,548 (GRCm39) Y288H probably damaging Het
Ezh2 A T 6: 47,509,014 (GRCm39) probably null Het
Fam171a1 T C 2: 3,226,426 (GRCm39) Y395H probably benign Het
Gas2l3 C A 10: 89,249,837 (GRCm39) R427L probably damaging Het
Gli2 T A 1: 118,783,233 (GRCm39) I91F probably damaging Het
Gm4884 T C 7: 40,692,318 (GRCm39) S96P probably damaging Het
Gprc5d T A 6: 135,093,031 (GRCm39) D292V probably benign Het
Herc1 A G 9: 66,355,505 (GRCm39) K2252R probably benign Het
Il1rl1 A T 1: 40,489,285 (GRCm39) M346L probably benign Het
Kcna5 A T 6: 126,510,946 (GRCm39) V394D probably damaging Het
Kcng4 A T 8: 120,352,617 (GRCm39) M431K possibly damaging Het
Kifbp A T 10: 62,414,020 (GRCm39) V46E probably damaging Het
Large1 A G 8: 73,774,937 (GRCm39) F258L possibly damaging Het
Mapkbp1 T A 2: 119,852,662 (GRCm39) C1001S probably damaging Het
Micu1 A G 10: 59,663,054 (GRCm39) Q328R probably benign Het
Mmp11 G A 10: 75,761,290 (GRCm39) P437S probably damaging Het
Msh6 T A 17: 88,287,716 (GRCm39) F119I possibly damaging Het
Myo6 A G 9: 80,149,531 (GRCm39) E159G probably damaging Het
Negr1 T A 3: 156,721,833 (GRCm39) Y136N probably damaging Het
Nol9 T A 4: 152,130,428 (GRCm39) C321S probably damaging Het
Nos1 T C 5: 118,043,378 (GRCm39) F551S probably benign Het
Nup153 C A 13: 46,837,629 (GRCm39) G1198C probably damaging Het
Omd T C 13: 49,743,552 (GRCm39) S201P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or4c120 C A 2: 89,000,744 (GRCm39) V271F probably benign Het
Or51l14 A G 7: 103,100,919 (GRCm39) Y125C probably damaging Het
Or51l14 C A 7: 103,100,920 (GRCm39) Y125* probably null Het
Oxct1 G T 15: 4,064,832 (GRCm39) A57S probably benign Het
Pcdhga7 T G 18: 37,850,433 (GRCm39) S813R probably damaging Het
Pcmtd2 A T 2: 181,496,787 (GRCm39) I255F possibly damaging Het
Pdk1 T G 2: 71,713,913 (GRCm39) M186R possibly damaging Het
Pelp1 T C 11: 70,285,925 (GRCm39) T648A probably damaging Het
Phldb2 A T 16: 45,628,621 (GRCm39) S570R possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Ptprj T C 2: 90,299,992 (GRCm39) T270A possibly damaging Het
Reln C T 5: 22,160,179 (GRCm39) G2130D probably damaging Het
Rims1 A T 1: 22,358,844 (GRCm39) Y663* probably null Het
Rit2 T C 18: 31,286,817 (GRCm39) T123A probably benign Het
Rmdn2 A T 17: 79,975,418 (GRCm39) E302D probably benign Het
Ryr1 T C 7: 28,801,283 (GRCm39) E827G possibly damaging Het
Siglec1 C T 2: 130,923,264 (GRCm39) G494R probably damaging Het
Slc16a14 T A 1: 84,890,318 (GRCm39) Y329F probably damaging Het
Slc35d1 A T 4: 103,071,978 (GRCm39) L8Q possibly damaging Het
Smpdl3a C T 10: 57,677,163 (GRCm39) S57L possibly damaging Het
Spaca1 A T 4: 34,029,095 (GRCm39) I126N probably damaging Het
Spred1 T G 2: 116,994,052 (GRCm39) I94S probably damaging Het
Tardbp T C 4: 148,706,494 (GRCm39) D105G possibly damaging Het
Tet2 T C 3: 133,182,326 (GRCm39) S1213G probably benign Het
Trak1 A T 9: 121,196,121 (GRCm39) probably benign Het
Trem3 G A 17: 48,556,756 (GRCm39) V76M possibly damaging Het
Ttc13 G T 8: 125,421,674 (GRCm39) Y250* probably null Het
Ttll5 T G 12: 85,969,819 (GRCm39) S714R possibly damaging Het
Ube2l6 T G 2: 84,633,220 (GRCm39) probably null Het
Ubr3 T C 2: 69,803,679 (GRCm39) S1090P probably damaging Het
Vezt T C 10: 93,806,372 (GRCm39) T680A probably benign Het
Virma A G 4: 11,546,297 (GRCm39) K1762E probably damaging Het
Vps53 A G 11: 76,057,074 (GRCm39) S57P probably damaging Het
Vwa7 G T 17: 35,236,822 (GRCm39) D130Y probably damaging Het
Vwa8 T G 14: 79,302,342 (GRCm39) F1004V probably damaging Het
Zfp35 A T 18: 24,137,194 (GRCm39) K513* probably null Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp521 C A 18: 13,978,505 (GRCm39) C636F 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
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
R6263:Snx9 UTSW 17 5,937,324 (GRCm39) missense probably damaging 0.98
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'- TGCCTCTTAGAAGCAGCCAG -3'
(R):5'- TGTTGGGAGGGTACACTCAC -3'

Sequencing Primer
(F):5'- CCAGATGAAGTCCTGCTGATGAC -3'
(R):5'- CTCACACCTGTGGATGGGGATG -3'
Posted On 2016-06-21