Incidental Mutation 'R7429:Snx7'
ID 576298
Institutional Source Beutler Lab
Gene Symbol Snx7
Ensembl Gene ENSMUSG00000028007
Gene Name sorting nexin 7
Synonyms
MMRRC Submission 045507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7429 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 117575296-117662585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117630861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 249 (N249S)
Ref Sequence ENSEMBL: ENSMUSP00000029639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029639] [ENSMUST00000167877] [ENSMUST00000198499]
AlphaFold Q9CY18
Predicted Effect probably benign
Transcript: ENSMUST00000029639
AA Change: N249S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007
AA Change: N249S

DomainStartEndE-ValueType
low complexity region 38 51 N/A INTRINSIC
PX 85 205 1.55e-22 SMART
coiled coil region 362 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167877
AA Change: N166S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125804
Gene: ENSMUSG00000028007
AA Change: N166S

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
PX 57 196 3.62e-2 SMART
coiled coil region 279 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169812
AA Change: N240S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007
AA Change: N240S

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
PX 77 197 1.55e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198499
AA Change: N191S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007
AA Change: N191S

DomainStartEndE-ValueType
PX 27 147 1.55e-22 SMART
coiled coil region 304 333 N/A INTRINSIC
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (71/71)
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 phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T C 1: 85,859,028 (GRCm39) C60R unknown Het
A430033K04Rik A G 5: 138,634,445 (GRCm39) D20G possibly damaging Het
Aadacl4fm2 T A 4: 144,291,626 (GRCm39) I27F probably benign Het
Abca9 CA C 11: 110,018,252 (GRCm39) probably null Het
Ankle2 C T 5: 110,382,384 (GRCm39) T120I possibly damaging Het
Ap2b1 C T 11: 83,258,824 (GRCm39) T765I probably benign Het
Atp8b4 A T 2: 126,245,291 (GRCm39) V286E possibly damaging Het
Brms1l T C 12: 55,892,084 (GRCm39) L126P probably damaging Het
Btbd7 T C 12: 102,804,039 (GRCm39) T334A probably damaging Het
Cdh18 T C 15: 23,366,942 (GRCm39) V216A possibly damaging Het
Chka A G 19: 3,942,787 (GRCm39) Y415C probably damaging Het
Cnih1 C T 14: 47,017,679 (GRCm39) V52I possibly damaging Het
Cox4i1 T A 8: 121,400,770 (GRCm39) M145K probably damaging Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyfip1 A G 7: 55,550,341 (GRCm39) E692G probably damaging Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Edc4 T C 8: 106,618,216 (GRCm39) S1245P probably damaging Het
Enpp1 G T 10: 24,587,848 (GRCm39) H14Q probably benign Het
Etaa1 C T 11: 17,890,281 (GRCm39) R860Q probably damaging Het
Fam181b G A 7: 92,729,403 (GRCm39) V59M probably benign Het
Fam184b G A 5: 45,698,230 (GRCm39) T655I probably benign Het
Fcgr3 A G 1: 170,885,442 (GRCm39) M61T probably benign Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Frmd3 A G 4: 74,063,342 (GRCm39) D223G probably damaging Het
Galnt4 A G 10: 98,945,610 (GRCm39) H445R probably damaging Het
Gm44501 A G 17: 40,887,517 (GRCm39) T12A probably null Het
Hnrnpll T A 17: 80,357,276 (GRCm39) I247F probably damaging Het
Hs3st4 T C 7: 123,996,605 (GRCm39) F424L probably damaging Het
Ifi206 A T 1: 173,308,157 (GRCm39) V613E Het
Insig1 T C 5: 28,280,077 (GRCm39) F223S probably damaging Het
Iqgap1 C T 7: 80,401,188 (GRCm39) E500K probably benign Het
Itgav G A 2: 83,624,602 (GRCm39) V731M probably damaging Het
Lrrfip2 T G 9: 111,014,194 (GRCm39) probably null Het
Mark4 C A 7: 19,160,092 (GRCm39) G723C probably damaging Het
Marveld3 A G 8: 110,675,100 (GRCm39) S239P possibly damaging Het
Mast3 A C 8: 71,232,947 (GRCm39) C1122G probably damaging Het
Ms4a4d A G 19: 11,535,297 (GRCm39) I198M probably benign Het
Mup14 C T 4: 61,259,447 (GRCm39) G35E probably damaging Het
Myo1a T A 10: 127,542,716 (GRCm39) V118E probably damaging Het
Nfatc3 A G 8: 106,835,035 (GRCm39) T794A probably benign Het
Or1p1c T A 11: 74,160,579 (GRCm39) D121E probably damaging Het
Or51g2 A T 7: 102,622,969 (GRCm39) S77T probably damaging Het
Or7g16 T C 9: 18,726,650 (GRCm39) *313W probably null Het
Pde6c T A 19: 38,129,887 (GRCm39) Y266N probably damaging Het
Pde9a T C 17: 31,689,680 (GRCm39) L435P probably damaging Het
Pgm1 T A 4: 99,813,192 (GRCm39) M1K probably null Het
Plcb4 T C 2: 135,810,242 (GRCm39) Y626H probably damaging Het
Rnf10 T C 5: 115,386,739 (GRCm39) N517D probably damaging Het
Rpap3 A T 15: 97,586,031 (GRCm39) L320Q possibly damaging Het
Rptor T C 11: 119,737,654 (GRCm39) W576R probably damaging Het
Scarb2 T C 5: 92,633,093 (GRCm39) I80V probably benign Het
Serpinc1 A G 1: 160,823,011 (GRCm39) T251A probably benign Het
Sgk3 A G 1: 9,942,483 (GRCm39) D85G probably benign Het
Sipa1l3 T C 7: 29,086,631 (GRCm39) D653G probably benign Het
Slc2a1 A G 4: 118,993,510 (GRCm39) Y449C probably damaging Het
Snx13 T C 12: 35,183,357 (GRCm39) V760A possibly damaging Het
Soat2 C A 15: 102,062,735 (GRCm39) H124Q probably damaging Het
Sugt1 T A 14: 79,857,241 (GRCm39) probably null Het
Syne2 C T 12: 75,980,770 (GRCm39) T1509M probably damaging Het
Syne2 T A 12: 76,087,184 (GRCm39) L214* probably null Het
Taok2 T C 7: 126,469,849 (GRCm39) Q993R possibly damaging Het
Tmem161b A G 13: 84,430,866 (GRCm39) probably null Het
Tspan17 G A 13: 54,943,785 (GRCm39) E213K probably benign Het
Ttc6 T A 12: 57,704,888 (GRCm39) I631N probably benign Het
Ttn T A 2: 76,641,283 (GRCm39) L13574F probably damaging Het
U2af1l4 A G 7: 30,262,815 (GRCm39) E12G probably benign Het
Usp39 T C 6: 72,319,900 (GRCm39) Y106C probably damaging Het
Vmn1r185 A C 7: 26,310,603 (GRCm39) F301V probably benign Het
Zbp1 T A 2: 173,055,611 (GRCm39) K184N unknown Het
Zfp438 A G 18: 5,214,139 (GRCm39) V273A probably benign Het
Zswim5 A G 4: 116,833,054 (GRCm39) T596A possibly damaging Het
Other mutations in Snx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02593:Snx7 APN 3 117,633,609 (GRCm39) missense probably damaging 1.00
IGL02859:Snx7 APN 3 117,623,320 (GRCm39) splice site probably benign
IGL03260:Snx7 APN 3 117,575,942 (GRCm39) utr 3 prime probably benign
IGL03357:Snx7 APN 3 117,632,524 (GRCm39) missense probably damaging 1.00
P0026:Snx7 UTSW 3 117,633,672 (GRCm39) missense probably damaging 1.00
R0620:Snx7 UTSW 3 117,640,324 (GRCm39) missense probably damaging 0.96
R0731:Snx7 UTSW 3 117,623,320 (GRCm39) splice site probably benign
R1613:Snx7 UTSW 3 117,623,222 (GRCm39) splice site probably benign
R1621:Snx7 UTSW 3 117,630,805 (GRCm39) missense possibly damaging 0.89
R1911:Snx7 UTSW 3 117,623,317 (GRCm39) splice site probably null
R1912:Snx7 UTSW 3 117,623,317 (GRCm39) splice site probably null
R3788:Snx7 UTSW 3 117,632,639 (GRCm39) splice site probably benign
R4663:Snx7 UTSW 3 117,594,528 (GRCm39) missense probably benign 0.00
R5182:Snx7 UTSW 3 117,626,506 (GRCm39) missense probably damaging 1.00
R5681:Snx7 UTSW 3 117,640,272 (GRCm39) missense probably benign 0.10
R6397:Snx7 UTSW 3 117,640,272 (GRCm39) missense probably benign 0.10
R6715:Snx7 UTSW 3 117,575,985 (GRCm39) missense possibly damaging 0.47
R6901:Snx7 UTSW 3 117,623,285 (GRCm39) nonsense probably null
R6996:Snx7 UTSW 3 117,640,281 (GRCm39) missense possibly damaging 0.82
R7049:Snx7 UTSW 3 117,633,680 (GRCm39) missense possibly damaging 0.57
R7372:Snx7 UTSW 3 117,576,000 (GRCm39) missense probably damaging 1.00
R7741:Snx7 UTSW 3 117,632,488 (GRCm39) missense probably damaging 1.00
R8025:Snx7 UTSW 3 117,626,526 (GRCm39) missense probably benign
R8098:Snx7 UTSW 3 117,632,583 (GRCm39) missense probably benign 0.00
R8125:Snx7 UTSW 3 117,630,894 (GRCm39) missense probably damaging 0.96
R9400:Snx7 UTSW 3 117,630,863 (GRCm39) missense probably benign 0.04
R9501:Snx7 UTSW 3 117,632,611 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TGGATGTCAGGGCATGAGAC -3'
(R):5'- CACACATGGAAGTGCGTTGTC -3'

Sequencing Primer
(F):5'- GACAGTTTTTGGAAGTGAAATCCG -3'
(R):5'- CTTTGCTGCAGCTGGGAAC -3'
Posted On 2019-10-07