Incidental Mutation 'IGL02682:Snx6'
ID 303391
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 # IGL02682
Quality Score
Status
Chromosome 12
Chromosomal Location 54793124-54842464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54801130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 289 (D289G)
Ref Sequence ENSEMBL: ENSMUSP00000005798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005798] [ENSMUST00000218934]
AlphaFold Q6P8X1
Predicted Effect probably damaging
Transcript: ENSMUST00000005798
AA Change: D289G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: D289G

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: D173G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,367,823 (GRCm39) S113P probably benign Het
Arhgdib A T 6: 136,901,166 (GRCm39) W188R probably damaging Het
Bcr T A 10: 75,001,878 (GRCm39) N927K possibly damaging Het
Cd209c A G 8: 3,990,324 (GRCm39) Y165H probably damaging Het
Cnnm2 A G 19: 46,750,515 (GRCm39) K102E probably benign Het
Col12a1 T C 9: 79,606,623 (GRCm39) E600G probably damaging Het
Ddx4 A T 13: 112,758,720 (GRCm39) H280Q probably benign Het
Eya4 T C 10: 22,992,498 (GRCm39) Y462C probably damaging Het
Fibcd1 T A 2: 31,728,576 (GRCm39) I94F probably damaging Het
Gm4846 C A 1: 166,322,195 (GRCm39) G124V probably damaging Het
Gm5624 A G 14: 44,797,469 (GRCm39) I108T possibly damaging Het
Gpr179 A T 11: 97,242,691 (GRCm39) M51K probably benign Het
Hck A G 2: 152,976,054 (GRCm39) I198V probably damaging Het
Kcnd2 T A 6: 21,216,924 (GRCm39) C209* probably null Het
Klhl1 T A 14: 96,438,778 (GRCm39) I507F possibly damaging Het
Knl1 A T 2: 118,908,450 (GRCm39) K1693N possibly damaging Het
Mcam T C 9: 44,051,714 (GRCm39) V490A possibly damaging Het
Mrgprx1 A T 7: 47,671,740 (GRCm39) D2E probably damaging Het
Mtg1 T C 7: 139,724,642 (GRCm39) probably benign Het
Myof C A 19: 37,909,929 (GRCm39) R1512L probably benign Het
Nrp2 C T 1: 62,810,996 (GRCm39) T679I probably benign Het
Nwd2 C A 5: 63,962,020 (GRCm39) L535I probably benign Het
Nwd2 T A 5: 63,962,021 (GRCm39) L535H probably damaging Het
Or4f14b T A 2: 111,775,285 (GRCm39) N172I probably damaging Het
Or52j3 A T 7: 102,836,221 (GRCm39) I138F probably damaging Het
Or5b94 T C 19: 12,652,033 (GRCm39) S155P probably damaging Het
Phkb A G 8: 86,602,275 (GRCm39) *41W probably null Het
Prl5a1 T A 13: 28,329,403 (GRCm39) N27K probably benign Het
Rims1 T C 1: 22,358,708 (GRCm39) T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 (GRCm39) A376V probably damaging Het
Slc34a2 T C 5: 53,216,580 (GRCm39) V117A possibly damaging Het
Slfn8 A T 11: 82,894,517 (GRCm39) F707L probably damaging Het
Snx16 G A 3: 10,503,235 (GRCm39) P4L probably damaging Het
St8sia3 G T 18: 64,402,750 (GRCm39) V130F probably damaging Het
U2surp A G 9: 95,363,704 (GRCm39) probably null Het
Ubqln3 A G 7: 103,791,272 (GRCm39) F273L probably benign Het
Vmn2r101 A T 17: 19,832,507 (GRCm39) R834S possibly damaging Het
Vmn2r18 G T 5: 151,508,102 (GRCm39) H341N probably damaging Het
Vrk3 A G 7: 44,403,244 (GRCm39) I2V probably benign Het
Zglp1 A G 9: 20,977,534 (GRCm39) S94P probably benign Het
Other mutations in Snx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Snx6 APN 12 54,801,094 (GRCm39) missense probably damaging 0.99
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 2015-04-16