Incidental Mutation 'IGL01340:Snx6'
ID 74805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx6
Ensembl Gene ENSMUSG00000005656
Gene Name sorting nexin 6
Synonyms 2010006G21Rik, 2610032J07Rik, 2810425K19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # IGL01340
Quality Score
Status
Chromosome 12
Chromosomal Location 54793124-54842464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54801094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 185 (R185Q)
Ref Sequence ENSEMBL: ENSMUSP00000151488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005798] [ENSMUST00000218934]
AlphaFold Q6P8X1
Predicted Effect probably damaging
Transcript: ENSMUST00000005798
AA Change: R301Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: R301Q

DomainStartEndE-ValueType
Pfam:PX 29 170 2.8e-21 PFAM
Pfam:Vps5 184 399 2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218934
AA Change: R185Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219722
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 phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,021,453 (GRCm39) I1086L probably benign Het
Adam17 A T 12: 21,380,058 (GRCm39) C630* probably null Het
Adgrg5 T C 8: 95,664,257 (GRCm39) L289P probably damaging Het
Aplp1 G A 7: 30,143,843 (GRCm39) T64I probably damaging Het
Bdh1 T A 16: 31,275,661 (GRCm39) W261R probably damaging Het
Cadm2 A T 16: 66,581,672 (GRCm39) I202N possibly damaging Het
Cd209c C T 8: 3,995,892 (GRCm39) R6H probably benign Het
Cfap221 T A 1: 119,881,350 (GRCm39) I371F possibly damaging Het
Cfap44 A G 16: 44,224,493 (GRCm39) Y67C probably damaging Het
Cilp T C 9: 65,183,256 (GRCm39) S387P probably damaging Het
Cnot1 T C 8: 96,487,165 (GRCm39) D598G probably damaging Het
Col5a1 T C 2: 27,850,463 (GRCm39) L520P unknown Het
Cpvl A T 6: 53,873,436 (GRCm39) Y433* probably null Het
Cxcl1 G T 5: 91,039,434 (GRCm39) C59F probably damaging Het
Cyth3 T A 5: 143,670,190 (GRCm39) L33* probably null Het
Dnah2 T C 11: 69,384,010 (GRCm39) K1069E probably damaging Het
Drosha T A 15: 12,834,109 (GRCm39) probably benign Het
Fam83h T A 15: 75,875,885 (GRCm39) D484V probably damaging Het
Igsf3 C A 3: 101,346,995 (GRCm39) Y663* probably null Het
Kmt5c C T 7: 4,745,140 (GRCm39) R44* probably null Het
Kxd1 T C 8: 70,968,093 (GRCm39) probably null Het
Lars1 A G 18: 42,335,642 (GRCm39) V1158A probably benign Het
Lmf2 A G 15: 89,237,075 (GRCm39) F413S probably damaging Het
Mc4r C T 18: 66,992,229 (GRCm39) A295T probably benign Het
Mrc1 T C 2: 14,314,895 (GRCm39) probably null Het
Mtmr7 T C 8: 41,050,465 (GRCm39) Y110C probably damaging Het
Myd88 A C 9: 119,166,418 (GRCm39) probably benign Het
Ndc1 T C 4: 107,231,344 (GRCm39) V95A probably damaging Het
Ntrk1 T A 3: 87,696,021 (GRCm39) E163V possibly damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pappa A T 4: 65,242,109 (GRCm39) D1491V possibly damaging Het
Phc3 T A 3: 30,984,033 (GRCm39) I673F possibly damaging Het
Pkhd1 A T 1: 20,593,201 (GRCm39) N1637K probably benign Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rgma T C 7: 73,067,078 (GRCm39) F111S probably damaging Het
Slco1a6 A T 6: 142,055,109 (GRCm39) N278K possibly damaging Het
Slfn9 A T 11: 82,872,577 (GRCm39) F720I probably benign Het
Snd1 T A 6: 28,883,368 (GRCm39) V741E probably benign Het
Spata31g1 A C 4: 42,971,984 (GRCm39) E439A possibly damaging Het
Telo2 G A 17: 25,319,103 (GRCm39) probably benign Het
Wdr91 A G 6: 34,881,514 (GRCm39) S278P probably benign Het
Xab2 A T 8: 3,664,381 (GRCm39) D277E probably damaging Het
Zbbx T C 3: 75,012,957 (GRCm39) E158G possibly damaging Het
Other mutations in Snx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02682:Snx6 APN 12 54,801,130 (GRCm39) missense probably damaging 1.00
IGL02995:Snx6 APN 12 54,842,295 (GRCm39) splice site probably benign
IGL03240:Snx6 APN 12 54,830,228 (GRCm39) missense probably damaging 0.98
IGL03353:Snx6 APN 12 54,812,469 (GRCm39) splice site probably benign
PIT4362001:Snx6 UTSW 12 54,814,815 (GRCm39) missense possibly damaging 0.80
R0458:Snx6 UTSW 12 54,814,921 (GRCm39) nonsense probably null
R0610:Snx6 UTSW 12 54,798,574 (GRCm39) missense probably damaging 1.00
R0689:Snx6 UTSW 12 54,810,441 (GRCm39) missense probably benign 0.00
R1818:Snx6 UTSW 12 54,830,259 (GRCm39) missense possibly damaging 0.95
R1819:Snx6 UTSW 12 54,830,259 (GRCm39) missense possibly damaging 0.95
R4946:Snx6 UTSW 12 54,817,528 (GRCm39) missense probably damaging 1.00
R5275:Snx6 UTSW 12 54,830,807 (GRCm39) missense probably damaging 1.00
R5373:Snx6 UTSW 12 54,817,513 (GRCm39) missense probably damaging 0.99
R5374:Snx6 UTSW 12 54,817,513 (GRCm39) missense probably damaging 0.99
R5497:Snx6 UTSW 12 54,803,846 (GRCm39) missense probably damaging 0.98
R5907:Snx6 UTSW 12 54,801,104 (GRCm39) missense probably damaging 1.00
R5947:Snx6 UTSW 12 54,817,549 (GRCm39) nonsense probably null
R6178:Snx6 UTSW 12 54,807,249 (GRCm39) missense probably damaging 0.99
R6287:Snx6 UTSW 12 54,793,813 (GRCm39) missense possibly damaging 0.75
R6321:Snx6 UTSW 12 54,798,798 (GRCm39) missense probably damaging 1.00
R6878:Snx6 UTSW 12 54,810,386 (GRCm39) splice site probably null
R7055:Snx6 UTSW 12 54,830,864 (GRCm39) missense probably damaging 1.00
R8227:Snx6 UTSW 12 54,798,756 (GRCm39) missense possibly damaging 0.82
R8899:Snx6 UTSW 12 54,812,423 (GRCm39) missense probably benign 0.06
R9606:Snx6 UTSW 12 54,814,811 (GRCm39) missense probably benign 0.30
Posted On 2013-10-07