Incidental Mutation 'IGL00417:Snx9'
ID 332365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx9
Ensembl Gene ENSMUSG00000002365
Gene Name sorting nexin 9
Synonyms SH3PX1, SDP1
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # IGL00417
Quality Score
Status
Chromosome 17
Chromosomal Location 5891604-5982229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5942172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 100 (Q100K)
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 benign
Transcript: ENSMUST00000002436
AA Change: Q100K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: Q100K

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,022,982 (GRCm39) I39M probably benign Het
Acoxl G A 2: 127,820,724 (GRCm39) C92Y probably damaging Het
Actl6b G T 5: 137,552,899 (GRCm39) R76L probably damaging Het
Afg2a A G 3: 37,505,951 (GRCm39) I677V possibly damaging Het
Ank T C 15: 27,544,437 (GRCm39) M66T possibly damaging Het
C6 C T 15: 4,789,449 (GRCm39) A298V possibly damaging Het
Clip4 A T 17: 72,156,937 (GRCm39) N591Y probably damaging Het
Cntnap5b T C 1: 99,978,479 (GRCm39) I165T probably damaging Het
Dennd1b G A 1: 138,990,678 (GRCm39) R214H probably damaging Het
Eri2 G A 7: 119,386,964 (GRCm39) T185I probably benign Het
Fbxo33 A G 12: 59,249,456 (GRCm39) V476A probably damaging Het
Fer1l4 G A 2: 155,861,840 (GRCm39) R1826* probably null Het
Fyb1 A T 15: 6,610,258 (GRCm39) K277I probably damaging Het
Gli3 C A 13: 15,818,884 (GRCm39) H229N probably damaging Het
Hmcn1 T C 1: 150,553,029 (GRCm39) I2554V probably benign Het
Maml2 A T 9: 13,532,900 (GRCm39) probably benign Het
Map4k4 T C 1: 40,053,692 (GRCm39) F930L possibly damaging Het
Mmadhc T C 2: 50,179,043 (GRCm39) D125G probably benign Het
Nipbl A G 15: 8,396,157 (GRCm39) S139P probably damaging Het
Obscn A G 11: 58,897,614 (GRCm39) L6647P unknown Het
Ppara C A 15: 85,685,268 (GRCm39) H406N probably benign Het
Psg27 T A 7: 18,295,842 (GRCm39) H201L probably benign Het
Qser1 A T 2: 104,617,248 (GRCm39) I1188N probably damaging Het
Rc3h1 T C 1: 160,783,551 (GRCm39) probably null Het
Septin2 C T 1: 93,426,864 (GRCm39) H158Y probably damaging Het
Thnsl2 G A 6: 71,108,884 (GRCm39) T309I probably damaging Het
Thsd7b A G 1: 129,523,571 (GRCm39) R125G probably damaging Het
Tmem62 T G 2: 120,837,445 (GRCm39) probably null Het
Tnpo3 A T 6: 29,578,460 (GRCm39) probably null Het
Trpc6 A T 9: 8,680,439 (GRCm39) D889V probably damaging Het
Tubgcp6 C A 15: 88,988,211 (GRCm39) V913L probably benign Het
Uox A T 3: 146,333,565 (GRCm39) M255L probably benign Het
Other mutations in Snx9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Snx9 APN 17 5,949,636 (GRCm39) missense probably benign
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
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
Posted On 2015-08-05