Incidental Mutation 'IGL02102:Snx15'
ID279798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx15
Ensembl Gene ENSMUSG00000024787
Gene Namesorting nexin 15
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02102
Quality Score
Status
Chromosome19
Chromosomal Location6119399-6128304 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6122074 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000150718
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
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: 92,777,439 T1338A probably benign Het
Adcy3 G A 12: 4,134,699 C125Y probably damaging Het
Aoc1 A T 6: 48,905,962 K257N probably damaging Het
Apob T C 12: 7,989,407 V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 V684D probably benign Het
AW551984 A G 9: 39,589,691 W763R probably damaging Het
Blm G A 7: 80,469,756 T1026M probably damaging Het
Cd160 A G 3: 96,805,570 I126T possibly damaging Het
Cdk14 T C 5: 5,380,083 K15E probably benign Het
Cnot6l T C 5: 96,091,659 K261R probably damaging Het
Cyp3a13 T G 5: 137,911,603 T153P probably benign Het
Ddx24 A G 12: 103,408,484 probably benign Het
Dido1 G A 2: 180,662,247 T1288I possibly damaging Het
Dnajc13 A G 9: 104,229,009 V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 Y117* probably null Het
Dsg1a A G 18: 20,332,032 N427D probably benign Het
Gabrq T G X: 72,827,545 probably null Het
Glce A G 9: 62,070,601 probably benign Het
Gm10477 T C X: 56,525,401 L45P probably damaging Het
Htt T A 5: 34,891,481 probably benign Het
Ift140 A G 17: 25,033,130 E317G probably benign Het
Jak1 A G 4: 101,159,086 M827T probably benign Het
Kalrn A G 16: 34,220,222 V932A probably damaging Het
Mdm2 A C 10: 117,692,717 S227R possibly damaging Het
Olfr1216 A G 2: 89,013,126 probably benign Het
Olfr153 T C 2: 87,532,461 F143L probably benign Het
Olfr305 T C 7: 86,363,866 Y157C probably benign Het
Olfr995 A G 2: 85,438,267 V297A probably damaging Het
Olfr996 G A 2: 85,579,673 V145I probably damaging Het
Pdilt T G 7: 119,486,950 E514A probably benign Het
Pepd A G 7: 34,945,603 D153G probably damaging Het
Ptgis A T 2: 167,225,447 V70E probably damaging Het
Rnf112 T C 11: 61,452,015 K262E probably benign Het
Setd5 G T 6: 113,150,985 G1300* probably null Het
Sptbn1 T C 11: 30,137,427 D1004G probably damaging Het
Ston2 A C 12: 91,639,724 *896G probably null Het
Suco A G 1: 161,827,705 S1073P probably damaging Het
Susd1 A C 4: 59,369,636 D344E possibly damaging Het
Trnt1 G T 6: 106,778,112 probably null Het
Ttll12 A G 15: 83,582,063 F399S probably damaging Het
Vmn1r124 C T 7: 21,260,542 V26I probably benign Het
Vmn1r52 T A 6: 90,179,207 N164K possibly damaging Het
Vmn1r56 A T 7: 5,196,336 M94K possibly damaging Het
Vmn1r80 T C 7: 12,193,691 F243L probably damaging Het
Zdhhc8 G A 16: 18,225,199 S379F possibly damaging Het
Other mutations in Snx15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Snx15 APN 19 6119885 missense probably benign 0.00
PIT4418001:Snx15 UTSW 19 6123931 missense probably damaging 1.00
R0079:Snx15 UTSW 19 6123913 missense probably damaging 1.00
R0654:Snx15 UTSW 19 6121885 missense probably benign 0.33
R1499:Snx15 UTSW 19 6122064 missense probably damaging 1.00
R1943:Snx15 UTSW 19 6128066 missense probably damaging 1.00
R2991:Snx15 UTSW 19 6121485 missense probably damaging 0.99
R3769:Snx15 UTSW 19 6123954 splice site probably benign
R5117:Snx15 UTSW 19 6124151 critical splice donor site probably null
R5763:Snx15 UTSW 19 6122110 missense probably damaging 0.99
R6219:Snx15 UTSW 19 6121508 missense probably damaging 0.99
R7024:Snx15 UTSW 19 6120596 missense probably damaging 0.98
R7297:Snx15 UTSW 19 6120507 missense probably damaging 1.00
Z1088:Snx15 UTSW 19 6121411 missense probably damaging 0.96
Posted On2015-04-16