Incidental Mutation 'R5182:Snx7'
ID397596
Institutional Source Beutler Lab
Gene Symbol Snx7
Ensembl Gene ENSMUSG00000028007
Gene Namesorting nexin 7
Synonyms
MMRRC Submission 042853-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #R5182 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location117781647-117868936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117832857 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 252 (Y252H)
Ref Sequence ENSEMBL: ENSMUSP00000125804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029639] [ENSMUST00000167877] [ENSMUST00000198499]
Predicted Effect probably damaging
Transcript: ENSMUST00000029639
AA Change: Y335H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007
AA Change: Y335H

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 damaging
Transcript: ENSMUST00000167877
AA Change: Y252H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125804
Gene: ENSMUSG00000028007
AA Change: Y252H

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 unknown
Transcript: ENSMUST00000169812
AA Change: Y326H
SMART Domains Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007
AA Change: Y326H

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 damaging
Transcript: ENSMUST00000198499
AA Change: Y277H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007
AA Change: Y277H

DomainStartEndE-ValueType
PX 27 147 1.55e-22 SMART
coiled coil region 304 333 N/A INTRINSIC
Meta Mutation Damage Score 0.138 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (66/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A G 19: 21,630,765 M1T probably null Het
Abcg8 T C 17: 84,692,744 L243P probably damaging Het
Ankrd27 A G 7: 35,628,487 T811A probably damaging Het
Auts2 T C 5: 131,475,081 N188S probably null Het
Bak1 G A 17: 27,022,748 P65L possibly damaging Het
Cep350 A C 1: 155,858,108 L3013R probably damaging Het
Clca3b A G 3: 144,828,015 I533T probably damaging Het
Col6a5 C A 9: 105,857,332 E2637* probably null Het
Coq5 G A 5: 115,279,756 R15H probably benign Het
Dnah5 T G 15: 28,311,278 I1801S probably damaging Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Dpf3 T C 12: 83,370,596 E34G probably damaging Het
Dst C A 1: 34,179,086 Q1536K probably benign Het
Eng T C 2: 32,672,959 probably null Het
Fam102b T C 3: 108,985,351 K173E possibly damaging Het
Fignl1 A T 11: 11,801,717 I446N probably damaging Het
Fras1 C A 5: 96,636,173 C845* probably null Het
Gfm2 T C 13: 97,162,893 V347A probably damaging Het
Gpld1 A T 13: 24,984,070 probably null Het
Grn C A 11: 102,430,554 probably benign Het
Gsdmc4 C A 15: 63,893,804 V299F probably damaging Het
Hrnr A T 3: 93,332,143 R3229S unknown Het
Icam5 A G 9: 21,034,810 T313A probably benign Het
Ift172 T A 5: 31,267,614 D668V possibly damaging Het
Kdm5a T A 6: 120,388,105 C322* probably null Het
Klk6 A G 7: 43,828,660 K152R probably benign Het
Man1a2 A C 3: 100,647,017 I250S probably damaging Het
Nkpd1 A G 7: 19,523,256 Y170C probably damaging Het
Nmd3 T A 3: 69,722,468 probably null Het
Olfr131 A G 17: 38,082,114 M288T probably benign Het
Olfr566 A T 7: 102,856,969 D104E probably benign Het
Pax4 C T 6: 28,444,369 E229K probably benign Het
Pdc T C 1: 150,333,354 I196T possibly damaging Het
Pld1 T C 3: 28,045,081 I299T probably damaging Het
Pnma1 T C 12: 84,147,045 I295V probably benign Het
Prkg2 T A 5: 99,024,709 Y49F probably benign Het
Psmd12 T C 11: 107,479,659 L28P probably damaging Het
Ptprg A G 14: 12,154,174 T632A probably benign Het
Rab43 A G 6: 87,794,655 *118R probably null Het
Rabep1 C T 11: 70,904,628 R227* probably null Het
Rad51c T G 11: 87,397,719 I213L possibly damaging Het
Ranbp17 A T 11: 33,219,287 probably benign Het
Ryr3 T C 2: 112,755,150 E2735G probably damaging Het
Sdc3 A G 4: 130,821,684 probably benign Het
Sirpa G A 2: 129,615,732 R242H possibly damaging Het
Slc12a4 G A 8: 105,944,606 T983M probably damaging Het
St18 C T 1: 6,817,653 T482I probably benign Het
St7 A G 6: 17,846,237 Y163C probably damaging Het
Tas2r137 A T 6: 40,491,932 Q232L probably benign Het
Tgm6 A T 2: 130,141,302 K270N probably damaging Het
Tiam2 G A 17: 3,438,721 G768D probably damaging Het
Ttn C T 2: 76,870,429 probably benign Het
Ube4b A C 4: 149,381,242 S250R probably null Het
Ubxn2a G A 12: 4,880,634 A242V probably damaging Het
Usp10 G A 8: 119,956,681 V764I possibly damaging Het
Vmn1r222 A G 13: 23,232,497 L182P probably damaging Het
Vmn2r114 A G 17: 23,291,658 V616A probably damaging Het
Vps13a A G 19: 16,695,499 V1303A possibly damaging Het
Wnk2 G T 13: 49,061,161 T1315K possibly damaging Het
Zfp936 G A 7: 43,189,907 C266Y probably damaging Het
Zscan20 G T 4: 128,586,711 N662K possibly damaging Het
Other mutations in Snx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02593:Snx7 APN 3 117839960 missense probably damaging 1.00
IGL02859:Snx7 APN 3 117829671 splice site probably benign
IGL03260:Snx7 APN 3 117782293 utr 3 prime probably benign
IGL03357:Snx7 APN 3 117838875 missense probably damaging 1.00
P0026:Snx7 UTSW 3 117840023 missense probably damaging 1.00
R0620:Snx7 UTSW 3 117846675 missense probably damaging 0.96
R0731:Snx7 UTSW 3 117829671 splice site probably benign
R1613:Snx7 UTSW 3 117829573 splice site probably benign
R1621:Snx7 UTSW 3 117837156 missense possibly damaging 0.89
R1911:Snx7 UTSW 3 117829668 splice site probably null
R1912:Snx7 UTSW 3 117829668 splice site probably null
R3788:Snx7 UTSW 3 117838990 splice site probably benign
R4663:Snx7 UTSW 3 117800879 missense probably benign 0.00
R5681:Snx7 UTSW 3 117846623 missense probably benign 0.10
R6397:Snx7 UTSW 3 117846623 missense probably benign 0.10
R6715:Snx7 UTSW 3 117782336 missense possibly damaging 0.47
R6901:Snx7 UTSW 3 117829636 nonsense probably null
R6996:Snx7 UTSW 3 117846632 missense possibly damaging 0.82
R7049:Snx7 UTSW 3 117840031 missense possibly damaging 0.57
R7372:Snx7 UTSW 3 117782351 missense probably damaging 1.00
R7429:Snx7 UTSW 3 117837212 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTTTGGATCGAAGCCAATC -3'
(R):5'- GAAATGAAAGAATACGGCCCTATTC -3'

Sequencing Primer
(F):5'- ATTCCTATTGAGCAGCCCAG -3'
(R):5'- CATATTCTATGGTCAGCCTCAGAGG -3'
Posted On2016-07-06