Incidental Mutation 'R1943:Snx15'
ID 216409
Institutional Source Beutler Lab
Gene Symbol Snx15
Ensembl Gene ENSMUSG00000024787
Gene Name sorting nexin 15
Synonyms E130013C21Rik, 1500032B08Rik
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6169429-6178334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6178096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 28 (Y28H)
Ref Sequence ENSEMBL: ENSMUSP00000122740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000138931] [ENSMUST00000154601]
AlphaFold Q91WE1
Predicted Effect possibly damaging
Transcript: ENSMUST00000025702
AA Change: Y28H

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: Y28H

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 noncoding transcript
Transcript: ENSMUST00000124964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129076
Predicted Effect probably damaging
Transcript: ENSMUST00000138931
AA Change: Y28H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787
AA Change: Y28H

DomainStartEndE-ValueType
PX 8 112 1.69e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154601
AA Change: Y28H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: Y28H

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E possibly damaging Het
Other mutations in Snx15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Snx15 APN 19 6,169,915 (GRCm39) missense probably benign 0.00
IGL02102:Snx15 APN 19 6,172,104 (GRCm39) missense possibly damaging 0.69
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
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
Predicted Primers PCR Primer
(F):5'- GAGGTGAGGCGCCTTAAATC -3'
(R):5'- AGAACGGTTGTGTCACTTGC -3'

Sequencing Primer
(F):5'- TGAGGCGCCTTAAATCTTCTG -3'
(R):5'- GTGTCACTTGCGACTAGGTCC -3'
Posted On 2014-08-01