Incidental Mutation 'IGL02195:Snx18'
ID 284044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx18
Ensembl Gene ENSMUSG00000042364
Gene Name sorting nexin 18
Synonyms Snag1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL02195
Quality Score
Status
Chromosome 13
Chromosomal Location 113728715-113755100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113753376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 519 (H519R)
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: H519R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104864
Gene: ENSMUSG00000042364
AA Change: H519R

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
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep G T 7: 79,476,433 (GRCm39) A65D probably damaging Het
Birc6 C T 17: 75,004,376 (GRCm39) probably benign Het
Car11 G T 7: 45,350,716 (GRCm39) V71L probably damaging Het
Cecr2 A G 6: 120,708,367 (GRCm39) Y123C probably damaging Het
Dnm2 G A 9: 21,336,545 (GRCm39) V52M probably damaging Het
Fbxo21 T A 5: 118,140,219 (GRCm39) C560S probably damaging Het
Gatb A T 3: 85,511,755 (GRCm39) Y170F probably benign Het
Ighv1-54 A T 12: 115,157,570 (GRCm39) S26T possibly damaging Het
Ints8 A T 4: 11,221,222 (GRCm39) W718R probably damaging Het
Iqgap2 T A 13: 95,798,242 (GRCm39) probably benign Het
Kif4 T C X: 99,769,822 (GRCm39) F1154S probably damaging Het
Klhl18 A G 9: 110,267,970 (GRCm39) C253R possibly damaging Het
Lilra6 T C 7: 3,917,549 (GRCm39) S149G probably benign Het
Lonrf1 G A 8: 36,687,102 (GRCm39) R745* probably null Het
Manea A C 4: 26,340,628 (GRCm39) Y111* probably null Het
Map2k1 A G 9: 64,101,090 (GRCm39) I196T probably benign Het
Matn4 T C 2: 164,242,972 (GRCm39) D42G probably damaging Het
Meioc C A 11: 102,565,683 (GRCm39) T433K possibly damaging Het
Mtmr7 A G 8: 41,013,946 (GRCm39) V204A probably damaging Het
Nus1 A G 10: 52,309,465 (GRCm39) D91G probably damaging Het
Or8a1b A G 9: 37,623,417 (GRCm39) S53P probably benign Het
Pisd A G 5: 32,894,659 (GRCm39) L549P probably damaging Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Prdm15 A G 16: 97,637,029 (GRCm39) V96A probably damaging Het
Prune2 C A 19: 17,096,921 (GRCm39) D808E probably benign Het
Sema5b G A 16: 35,480,849 (GRCm39) probably null Het
Shank3 A T 15: 89,432,321 (GRCm39) Q947L probably damaging Het
Sned1 A G 1: 93,201,882 (GRCm39) E616G probably benign Het
Spring1 T C 5: 118,397,462 (GRCm39) L148P probably damaging Het
Syde2 A G 3: 145,707,911 (GRCm39) T617A probably damaging Het
Tmem139 G T 6: 42,240,901 (GRCm39) R162L probably damaging Het
Trim72 A T 7: 127,607,136 (GRCm39) M222L probably damaging 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
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
R6157:Snx18 UTSW 13 113,753,725 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16