Incidental Mutation 'R1613:Snx7'
ID 176919
Institutional Source Beutler Lab
Gene Symbol Snx7
Ensembl Gene ENSMUSG00000028007
Gene Name sorting nexin 7
Synonyms
MMRRC Submission 039650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1613 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 117575296-117662585 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 117623222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029639] [ENSMUST00000167877] [ENSMUST00000198499]
AlphaFold Q9CY18
Predicted Effect probably benign
Transcript: ENSMUST00000029639
SMART Domains Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007

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
SMART Domains Protein: ENSMUSP00000125804
Gene: ENSMUSG00000028007

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
SMART Domains Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
PX 77 197 1.55e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196421
Predicted Effect probably benign
Transcript: ENSMUST00000198499
SMART Domains Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007

DomainStartEndE-ValueType
PX 27 147 1.55e-22 SMART
coiled coil region 304 333 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 82% (69/84)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aldh3a1 A T 11: 61,105,377 (GRCm39) D161V probably damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Amfr T A 8: 94,725,854 (GRCm39) M176L probably benign Het
Amigo1 A T 3: 108,095,536 (GRCm39) E345V probably benign Het
Atp13a3 T C 16: 30,151,118 (GRCm39) Y1064C probably damaging Het
Brd7 A T 8: 89,073,578 (GRCm39) C271S probably benign Het
Bub1b T A 2: 118,470,222 (GRCm39) probably null Het
Ccdc146 T A 5: 21,499,522 (GRCm39) I887F probably damaging Het
Ceacam14 T C 7: 17,547,973 (GRCm39) probably benign Het
Cntn1 T A 15: 92,143,871 (GRCm39) V278E possibly damaging Het
Col6a6 A C 9: 105,609,410 (GRCm39) probably null Het
Cspp1 C T 1: 10,203,466 (GRCm39) R1016C probably damaging Het
Cyp2c39 A G 19: 39,527,455 (GRCm39) Y267C probably damaging Het
Cyp2c67 C T 19: 39,614,643 (GRCm39) V295I probably benign Het
Cyp2d40 T C 15: 82,645,640 (GRCm39) T122A unknown Het
Dennd10 T A 19: 60,810,763 (GRCm39) V171D possibly damaging Het
Dmxl2 A G 9: 54,289,311 (GRCm39) I2541T probably benign Het
Eif3e G A 15: 43,113,620 (GRCm39) A438V possibly damaging Het
Fam178b C A 1: 36,639,273 (GRCm39) W342L probably benign Het
Fam78a G T 2: 31,959,581 (GRCm39) N176K probably damaging Het
Ghrhr A T 6: 55,356,682 (GRCm39) K93M probably damaging Het
Gm1527 T A 3: 28,953,002 (GRCm39) probably null Het
Gm1553 G A 10: 82,328,430 (GRCm39) probably benign Het
Gm5885 G A 6: 133,508,205 (GRCm39) noncoding transcript Het
Gm8674 G A 13: 50,056,474 (GRCm39) noncoding transcript Het
Hoxc6 C T 15: 102,918,017 (GRCm39) probably benign Het
Ino80 T C 2: 119,223,348 (GRCm39) T1189A probably damaging Het
Iqgap1 T C 7: 80,418,205 (GRCm39) E55G probably damaging Het
Kcnh2 G A 5: 24,527,760 (GRCm39) probably benign Het
Lama1 G A 17: 68,114,918 (GRCm39) G2356S probably benign Het
Mdfic T A 6: 15,799,589 (GRCm39) probably null Het
Me3 T C 7: 89,435,628 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,338 (GRCm39) D258G probably damaging Het
Nfe2 T C 15: 103,157,556 (GRCm39) D145G probably damaging Het
Nkapd1 T C 9: 50,519,105 (GRCm39) K169R probably damaging Het
Or10j3b C T 1: 173,043,434 (GRCm39) T72I probably benign Het
Or1ad1 T A 11: 50,876,045 (GRCm39) N172K probably damaging Het
Or1j20 A C 2: 36,760,405 (GRCm39) I276L possibly damaging Het
Or2y1e A G 11: 49,218,520 (GRCm39) Y94C probably damaging Het
Or4a67 T C 2: 88,598,149 (GRCm39) N170S probably damaging Het
Or4k1 A C 14: 50,377,751 (GRCm39) L115R probably damaging Het
Or5al5 A T 2: 85,961,407 (GRCm39) L200Q probably damaging Het
P4ha3 A T 7: 99,962,457 (GRCm39) D405V possibly damaging Het
Palmd T C 3: 116,717,153 (GRCm39) D448G probably damaging Het
Pclo T C 5: 14,729,146 (GRCm39) probably benign Het
Pcsk6 A G 7: 65,560,059 (GRCm39) probably benign Het
Pidd1 T C 7: 141,020,690 (GRCm39) E469G probably damaging Het
Ptpn13 A G 5: 103,684,737 (GRCm39) D875G possibly damaging Het
Rasgrf2 A G 13: 92,050,740 (GRCm39) L886P probably damaging Het
Scrib G A 15: 75,920,391 (GRCm39) R1454C probably damaging Het
Slc24a1 A G 9: 64,855,978 (GRCm39) S310P unknown Het
Slc44a5 A G 3: 153,963,351 (GRCm39) probably null Het
Snx4 T G 16: 33,106,416 (GRCm39) M283R probably damaging Het
Stk19 A T 17: 35,043,574 (GRCm39) L212H probably damaging Het
Sult2a4 T C 7: 13,723,420 (GRCm39) K32E probably damaging Het
Tfrc T A 16: 32,442,193 (GRCm39) Y473N probably damaging Het
Tlr2 C G 3: 83,744,660 (GRCm39) L474F probably damaging Het
Tnfrsf4 T A 4: 156,100,619 (GRCm39) F213I probably benign Het
Trim9 A T 12: 70,295,169 (GRCm39) I651N probably damaging Het
Vmn1r84 T A 7: 12,096,460 (GRCm39) I78L possibly damaging Het
Vmn2r77 T C 7: 86,460,356 (GRCm39) Y561H probably damaging Het
Vmn2r95 A G 17: 18,660,901 (GRCm39) probably benign Het
Zfp11 T C 5: 129,735,431 (GRCm39) N10S probably benign Het
Zfp81 A T 17: 33,553,757 (GRCm39) H352Q probably damaging Het
Zscan5b T A 7: 6,233,374 (GRCm39) L66Q probably 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
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
R7429:Snx7 UTSW 3 117,630,861 (GRCm39) missense probably benign 0.00
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'- TCTGCCAAGACATGTGCAGAGTG -3'
(R):5'- GTGCCCAGGGAAGCCTAATACAAG -3'

Sequencing Primer
(F):5'- GAGAAACCGTCAGATTCATGTTTCC -3'
(R):5'- ACATGATTTTAAATGCTTGATTACGG -3'
Posted On 2014-04-24