Incidental Mutation 'R6157:Snx18'
ID 489660
Institutional Source Beutler Lab
Gene Symbol Snx18
Ensembl Gene ENSMUSG00000042364
Gene Name sorting nexin 18
Synonyms Snag1
MMRRC Submission 044304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R6157 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 113728715-113755100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113753725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 403 (S403G)
Ref Sequence ENSEMBL: ENSMUSP00000104864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109241]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109241
AA Change: S403G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104864
Gene: ENSMUSG00000042364
AA Change: S403G

DomainStartEndE-ValueType
SH3 3 60 1.04e-14 SMART
low complexity region 61 76 N/A INTRINSIC
low complexity region 82 105 N/A INTRINSIC
low complexity region 112 123 N/A INTRINSIC
low complexity region 141 153 N/A INTRINSIC
low complexity region 172 182 N/A INTRINSIC
PX 264 373 8.75e-22 SMART
Pfam:BAR_3_WASP_bdg 377 613 7.1e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224883
Meta Mutation Damage Score 0.4762 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 93.1%
Validation Efficiency 93% (40/43)
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, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,947,617 (GRCm39) K505E possibly damaging Het
Abcb1b A T 5: 8,874,245 (GRCm39) N390I possibly damaging Het
Apob A T 12: 8,056,077 (GRCm39) M1520L probably benign Het
Atg4c C T 4: 99,123,400 (GRCm39) R396* probably null Het
Atp2a3 G A 11: 72,871,442 (GRCm39) V648M probably damaging Het
Blm T C 7: 80,162,733 (GRCm39) D203G probably benign Het
Csrnp3 A T 2: 65,779,363 (GRCm39) D13V probably damaging Het
Dnajc10 A T 2: 80,147,735 (GRCm39) probably benign Het
Dst A G 1: 34,250,253 (GRCm39) Y1729C probably damaging Het
Dynlt2b G A 16: 32,238,660 (GRCm39) A12T possibly damaging Het
Ecsit T C 9: 21,985,987 (GRCm39) Y213C probably damaging Het
Fer A G 17: 64,385,880 (GRCm39) K654R probably damaging Het
Hdac9 G T 12: 34,439,428 (GRCm39) A383E probably damaging Het
Hltf T A 3: 20,130,660 (GRCm39) S293T probably benign Het
Hydin T A 8: 111,254,648 (GRCm39) D2359E probably benign Het
Inf2 A G 12: 112,571,222 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,504 (GRCm39) N289S possibly damaging Het
Meioc T C 11: 102,559,227 (GRCm39) S50P probably damaging Het
Mocs1 G T 17: 49,761,764 (GRCm39) E619D probably benign Het
Nfatc2 A G 2: 168,361,371 (GRCm39) probably benign Het
Or51i1 T A 7: 103,671,105 (GRCm39) N140I possibly damaging Het
Pag1 A T 3: 9,758,896 (GRCm39) H407Q probably benign Het
Plaat1 A G 16: 29,036,501 (GRCm39) I46M possibly damaging Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pld4 C T 12: 112,734,535 (GRCm39) T432I probably damaging Het
Psd3 T G 8: 68,574,179 (GRCm39) M1L probably benign Het
Rasgrp2 C A 19: 6,452,531 (GRCm39) L35I probably damaging Het
Ripor2 T C 13: 24,885,052 (GRCm39) L390P probably damaging Het
Rpgrip1 A T 14: 52,349,631 (GRCm39) E6D probably benign Het
Ryr3 A T 2: 112,672,244 (GRCm39) L1409Q probably damaging Het
Slc6a5 A G 7: 49,601,250 (GRCm39) T684A probably benign Het
Smpd4 G T 16: 17,458,930 (GRCm39) probably null Het
Spsb4 G T 9: 96,878,160 (GRCm39) H54Q probably damaging Het
Ssrp1 A G 2: 84,871,072 (GRCm39) Y236C probably damaging Het
Tenm3 C T 8: 48,751,843 (GRCm39) S982N probably damaging Het
Tet1 A G 10: 62,675,749 (GRCm39) S776P probably damaging Het
Tln1 G A 4: 43,534,744 (GRCm39) P2166S probably benign Het
Ufl1 T A 4: 25,279,350 (GRCm39) Q83L possibly damaging Het
Unc80 A T 1: 66,693,188 (GRCm39) K2458* probably null Het
Ush2a A T 1: 188,460,467 (GRCm39) Y2576F probably benign Het
Xrcc6 C A 15: 81,913,305 (GRCm39) probably null Het
Zbtb48 A G 4: 152,106,064 (GRCm39) F380L probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K probably benign Het
Other mutations in Snx18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Snx18 APN 13 113,754,052 (GRCm39) missense probably benign 0.13
IGL02068:Snx18 APN 13 113,753,601 (GRCm39) missense probably damaging 1.00
IGL02195:Snx18 APN 13 113,753,376 (GRCm39) missense probably damaging 0.99
IGL02541:Snx18 APN 13 113,731,302 (GRCm39) missense probably damaging 0.98
R2419:Snx18 UTSW 13 113,753,755 (GRCm39) missense possibly damaging 0.52
R2958:Snx18 UTSW 13 113,753,422 (GRCm39) nonsense probably null
R3010:Snx18 UTSW 13 113,753,422 (GRCm39) nonsense probably null
R3011:Snx18 UTSW 13 113,753,422 (GRCm39) nonsense probably null
R4461:Snx18 UTSW 13 113,753,731 (GRCm39) missense probably damaging 1.00
R4557:Snx18 UTSW 13 113,754,364 (GRCm39) missense probably damaging 1.00
R4732:Snx18 UTSW 13 113,754,310 (GRCm39) missense probably benign 0.04
R4733:Snx18 UTSW 13 113,754,310 (GRCm39) missense probably benign 0.04
R5308:Snx18 UTSW 13 113,753,383 (GRCm39) nonsense probably null
R6995:Snx18 UTSW 13 113,731,265 (GRCm39) missense probably damaging 0.99
R8092:Snx18 UTSW 13 113,753,685 (GRCm39) missense probably damaging 1.00
R8253:Snx18 UTSW 13 113,731,317 (GRCm39) missense probably damaging 1.00
R8924:Snx18 UTSW 13 113,754,931 (GRCm39) start codon destroyed probably benign 0.30
R9098:Snx18 UTSW 13 113,754,310 (GRCm39) missense probably benign 0.04
R9363:Snx18 UTSW 13 113,754,732 (GRCm39) missense probably benign 0.25
R9547:Snx18 UTSW 13 113,753,754 (GRCm39) missense possibly damaging 0.92
R9776:Snx18 UTSW 13 113,754,039 (GRCm39) missense probably benign 0.18
Z1177:Snx18 UTSW 13 113,754,681 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ATCCAGCTCAAAGGCTTGGC -3'
(R):5'- CATCTCCAAACGCAGGAAGG -3'

Sequencing Primer
(F):5'- TCAAAGGCTTGGCTGAGACC -3'
(R):5'- CGCAGGAAGGGTCTGATCTG -3'
Posted On 2017-10-10