Incidental Mutation 'IGL02102:Snx15'
ID 279798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx15
Ensembl Gene ENSMUSG00000024787
Gene Name sorting nexin 15
Synonyms E130013C21Rik, 1500032B08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02102
Quality Score
Status
Chromosome 19
Chromosomal Location 6169429-6178334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6172104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
Ref Sequence ENSEMBL: ENSMUSP00000122740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000113533] [ENSMUST00000138931] [ENSMUST00000154601]
AlphaFold Q91WE1
Predicted Effect probably benign
Transcript: ENSMUST00000025702
AA Change: L113P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: L113P

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
MIT 265 337 7.77e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113533
SMART Domains Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Pfam:SAC3_GANP 134 356 7.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129076
Predicted Effect probably benign
Transcript: ENSMUST00000138931
AA Change: L101P

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787
AA Change: L101P

DomainStartEndE-ValueType
PX 8 112 1.69e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000154601
AA Change: L113P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: L113P

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
Blast:MIT 222 251 4e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150718
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. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,754,420 (GRCm39) T1338A probably benign Het
Adcy3 G A 12: 4,184,699 (GRCm39) C125Y probably damaging Het
Aoc1 A T 6: 48,882,896 (GRCm39) K257N probably damaging Het
Apob T C 12: 8,039,407 (GRCm39) V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 (GRCm39) V684D probably benign Het
AW551984 A G 9: 39,500,987 (GRCm39) W763R probably damaging Het
Blm G A 7: 80,119,504 (GRCm39) T1026M probably damaging Het
Cd160 A G 3: 96,712,886 (GRCm39) I126T possibly damaging Het
Cdk14 T C 5: 5,430,083 (GRCm39) K15E probably benign Het
Cnot6l T C 5: 96,239,518 (GRCm39) K261R probably damaging Het
Cyp3a13 T G 5: 137,909,865 (GRCm39) T153P probably benign Het
Ddx24 A G 12: 103,374,743 (GRCm39) probably benign Het
Dido1 G A 2: 180,304,040 (GRCm39) T1288I possibly damaging Het
Dnajc13 A G 9: 104,106,208 (GRCm39) V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dsg1a A G 18: 20,465,089 (GRCm39) N427D probably benign Het
Gabrq T G X: 71,871,151 (GRCm39) probably null Het
Glce A G 9: 61,977,883 (GRCm39) probably benign Het
Gm10477 T C X: 55,570,761 (GRCm39) L45P probably damaging Het
Htt T A 5: 35,048,825 (GRCm39) probably benign Het
Ift140 A G 17: 25,252,104 (GRCm39) E317G probably benign Het
Jak1 A G 4: 101,016,283 (GRCm39) M827T probably benign Het
Kalrn A G 16: 34,040,592 (GRCm39) V932A probably damaging Het
Mdm2 A C 10: 117,528,622 (GRCm39) S227R possibly damaging Het
Or14a259 T C 7: 86,013,074 (GRCm39) Y157C probably benign Het
Or4c111 A G 2: 88,843,470 (GRCm39) probably benign Het
Or5ak25 A G 2: 85,268,611 (GRCm39) V297A probably damaging Het
Or5g27 G A 2: 85,410,017 (GRCm39) V145I probably damaging Het
Or5w22 T C 2: 87,362,805 (GRCm39) F143L probably benign Het
Pdilt T G 7: 119,086,173 (GRCm39) E514A probably benign Het
Pepd A G 7: 34,645,028 (GRCm39) D153G probably damaging Het
Ptgis A T 2: 167,067,367 (GRCm39) V70E probably damaging Het
Rnf112 T C 11: 61,342,841 (GRCm39) K262E probably benign Het
Setd5 G T 6: 113,127,946 (GRCm39) G1300* probably null Het
Sptbn1 T C 11: 30,087,427 (GRCm39) D1004G probably damaging Het
Ston2 A C 12: 91,606,498 (GRCm39) *896G probably null Het
Suco A G 1: 161,655,274 (GRCm39) S1073P probably damaging Het
Susd1 A C 4: 59,369,636 (GRCm39) D344E possibly damaging Het
Trnt1 G T 6: 106,755,073 (GRCm39) probably null Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Vmn1r124 C T 7: 20,994,467 (GRCm39) V26I probably benign Het
Vmn1r52 T A 6: 90,156,189 (GRCm39) N164K possibly damaging Het
Vmn1r56 A T 7: 5,199,335 (GRCm39) M94K possibly damaging Het
Vmn1r80 T C 7: 11,927,618 (GRCm39) F243L probably damaging Het
Zdhhc8 G A 16: 18,043,063 (GRCm39) S379F possibly damaging Het
Other mutations in Snx15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Snx15 APN 19 6,169,915 (GRCm39) missense probably benign 0.00
PIT4418001:Snx15 UTSW 19 6,173,961 (GRCm39) missense probably damaging 1.00
R0079:Snx15 UTSW 19 6,173,943 (GRCm39) missense probably damaging 1.00
R0654:Snx15 UTSW 19 6,171,915 (GRCm39) missense probably benign 0.33
R1499:Snx15 UTSW 19 6,172,094 (GRCm39) missense probably damaging 1.00
R1943:Snx15 UTSW 19 6,178,096 (GRCm39) missense probably damaging 1.00
R2991:Snx15 UTSW 19 6,171,515 (GRCm39) missense probably damaging 0.99
R3769:Snx15 UTSW 19 6,173,984 (GRCm39) splice site probably benign
R5117:Snx15 UTSW 19 6,174,181 (GRCm39) critical splice donor site probably null
R5763:Snx15 UTSW 19 6,172,140 (GRCm39) missense probably damaging 0.99
R6219:Snx15 UTSW 19 6,171,538 (GRCm39) missense probably damaging 0.99
R7024:Snx15 UTSW 19 6,170,626 (GRCm39) missense probably damaging 0.98
R7297:Snx15 UTSW 19 6,170,537 (GRCm39) missense probably damaging 1.00
R8139:Snx15 UTSW 19 6,169,946 (GRCm39) missense probably damaging 1.00
R8139:Snx15 UTSW 19 6,169,945 (GRCm39) missense probably damaging 1.00
R8750:Snx15 UTSW 19 6,170,593 (GRCm39) missense probably benign 0.34
Z1088:Snx15 UTSW 19 6,171,441 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16