Incidental Mutation 'R6178:Snx6'
ID 487890
Institutional Source Beutler Lab
Gene Symbol Snx6
Ensembl Gene ENSMUSG00000005656
Gene Name sorting nexin 6
Synonyms 2010006G21Rik, 2610032J07Rik, 2810425K19Rik
MMRRC Submission 044320-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # R6178 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 54793124-54842464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 54807249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 243 (D243E)
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: D243E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: D243E

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: D127E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219722
Meta Mutation Damage Score 0.2315 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (54/55)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,678,468 (GRCm39) I61V probably benign Het
Afg3l2 G A 18: 67,542,598 (GRCm39) T616I possibly damaging Het
Aktip T C 8: 91,852,671 (GRCm39) N195S probably damaging Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Atg7 T A 6: 114,701,856 (GRCm39) I621N probably damaging Het
Becn1 T A 11: 101,182,336 (GRCm39) I283F probably damaging Het
Btnl12 T C 16: 37,676,422 (GRCm39) Y115C probably damaging Het
C4b T C 17: 34,952,380 (GRCm39) T1220A probably benign Het
Celsr1 C A 15: 85,785,222 (GRCm39) R3004M probably benign Het
Clspn A T 4: 126,471,529 (GRCm39) probably null Het
Csmd3 T C 15: 48,536,854 (GRCm39) Y116C probably damaging Het
Dcp1a T G 14: 30,245,261 (GRCm39) *603G probably null Het
Dmrtc1b C T X: 101,757,169 (GRCm39) P205S possibly damaging Het
Fev G T 1: 74,923,698 (GRCm39) probably benign Het
Fry T A 5: 150,377,987 (GRCm39) V393E probably damaging Het
Gm30646 A G 7: 30,132,081 (GRCm39) probably null Het
Gm3676 C T 14: 41,363,452 (GRCm39) E175K probably benign Het
Gm4847 T C 1: 166,469,905 (GRCm39) Y56C probably damaging Het
Gm5422 T C 10: 31,125,688 (GRCm39) noncoding transcript Het
Gstm6 A G 3: 107,848,397 (GRCm39) V174A probably benign Het
Isoc1 G T 18: 58,804,664 (GRCm39) V191F possibly damaging Het
Kalrn T A 16: 33,874,009 (GRCm39) D132V possibly damaging Het
Kcp T C 6: 29,482,887 (GRCm39) D1394G possibly damaging Het
Marchf10 T G 11: 105,280,440 (GRCm39) D615A probably damaging Het
Mau2 A G 8: 70,495,187 (GRCm39) I50T probably damaging Het
Mgp A G 6: 136,849,722 (GRCm39) C79R probably damaging Het
Mpdz T A 4: 81,226,602 (GRCm39) K1344N probably damaging Het
Mrgpre T A 7: 143,334,708 (GRCm39) Y265F possibly damaging Het
Mro G A 18: 74,006,295 (GRCm39) V80M possibly damaging Het
Mrpl44 G T 1: 79,755,895 (GRCm39) C167F possibly damaging Het
Muc5b A G 7: 141,410,079 (GRCm39) M1218V probably null Het
Naa16 T C 14: 79,620,780 (GRCm39) I100V possibly damaging Het
Nup205 A T 6: 35,220,778 (GRCm39) Y1860F possibly damaging Het
Or10aa3 A T 1: 173,878,533 (GRCm39) Y198F probably benign Het
Or14c40 A G 7: 86,313,819 (GRCm39) I316M probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4c103 T C 2: 88,513,977 (GRCm39) Y33C probably damaging Het
Plcb3 A G 19: 6,932,071 (GRCm39) probably null Het
Pnpla3 G A 15: 84,065,132 (GRCm39) A309T probably benign Het
Ranbp10 A G 8: 106,498,296 (GRCm39) S624P possibly damaging Het
Ripor2 T C 13: 24,894,113 (GRCm39) S714P possibly damaging Het
Robo4 C T 9: 37,316,926 (GRCm39) Q414* probably null Het
Shc2 A G 10: 79,465,954 (GRCm39) I161T probably damaging Het
Slc35b2 C T 17: 45,877,302 (GRCm39) T143I probably benign Het
Slc39a13 T C 2: 90,898,880 (GRCm39) D77G probably damaging Het
Taar8b A G 10: 23,967,711 (GRCm39) V161A probably benign Het
Tbr1 T A 2: 61,635,159 (GRCm39) D36E possibly damaging Het
Tdpoz2 T C 3: 93,559,618 (GRCm39) N118S probably benign Het
Tgfb1i1 T C 7: 127,852,517 (GRCm39) F478L probably damaging Het
Tmprss11f T C 5: 86,704,837 (GRCm39) D27G probably benign Het
Trim30d T G 7: 104,137,202 (GRCm39) M1L probably damaging Het
Trpm7 A G 2: 126,679,301 (GRCm39) V420A probably damaging Het
Ubap2 G T 4: 41,206,981 (GRCm39) P199H probably benign Het
Ubash3b T C 9: 40,926,212 (GRCm39) T512A probably damaging Het
Zfp65 G A 13: 67,858,437 (GRCm39) P76S probably benign Het
Zic5 A T 14: 122,696,748 (GRCm39) H622Q unknown Het
Zpld1 A T 16: 55,053,993 (GRCm39) N266K probably damaging Het
Zswim1 A G 2: 164,667,972 (GRCm39) probably null Het
Other mutations in Snx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Snx6 APN 12 54,801,094 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AAGTACTATTTCCTTTGCTGCCAG -3'
(R):5'- TGTTCCCATCCATCCTAAAGTG -3'

Sequencing Primer
(F):5'- AGCAAAGCCCTTCGCCTG -3'
(R):5'- CCTAAAGTGGTTCAAATGGCC -3'
Posted On 2017-10-10