Incidental Mutation 'R6106:Snx32'
ID 485535
Institutional Source Beutler Lab
Gene Symbol Snx32
Ensembl Gene ENSMUSG00000056185
Gene Name sorting nexin 32
Synonyms B930037P14Rik, Snx6b
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6106 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5545302-5560741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5548042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 131 (I131T)
Ref Sequence ENSEMBL: ENSMUSP00000070915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000116560] [ENSMUST00000189704] [ENSMUST00000209469]
AlphaFold Q80ZJ7
Predicted Effect probably benign
Transcript: ENSMUST00000070172
AA Change: I131T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185
AA Change: I131T

DomainStartEndE-ValueType
Pfam:PX 24 165 1.4e-19 PFAM
Pfam:Vps5 183 394 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116560
SMART Domains Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201

DomainStartEndE-ValueType
ADF 19 154 5.3e-56 SMART
low complexity region 195 205 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189704
SMART Domains Protein: ENSMUSP00000140922
Gene: ENSMUSG00000100937

DomainStartEndE-ValueType
Pfam:MAGE 82 253 2.2e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209469
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Apoa5 A T 9: 46,181,931 (GRCm39) R336* probably null Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Fam193a A T 5: 34,616,374 (GRCm39) T564S possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pcdhb11 A G 18: 37,556,056 (GRCm39) N462S probably damaging Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Pigu A T 2: 155,139,116 (GRCm39) I313N possibly damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc16a1 T C 3: 104,560,310 (GRCm39) L205P probably benign Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Tomm34 A G 2: 163,902,911 (GRCm39) M133T probably benign Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Snx32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Snx32 APN 19 5,547,764 (GRCm39) missense possibly damaging 0.82
IGL03389:Snx32 APN 19 5,546,082 (GRCm39) unclassified probably benign
R1547:Snx32 UTSW 19 5,547,339 (GRCm39) missense possibly damaging 0.48
R1739:Snx32 UTSW 19 5,546,139 (GRCm39) missense probably benign 0.00
R2138:Snx32 UTSW 19 5,546,157 (GRCm39) missense probably damaging 1.00
R5865:Snx32 UTSW 19 5,546,382 (GRCm39) missense probably benign 0.05
R6755:Snx32 UTSW 19 5,560,372 (GRCm39) missense probably benign
R7075:Snx32 UTSW 19 5,547,018 (GRCm39) missense probably damaging 1.00
R9272:Snx32 UTSW 19 5,548,485 (GRCm39) missense probably damaging 1.00
R9487:Snx32 UTSW 19 5,547,736 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTGACATCGTCAGGCGTGATTC -3'
(R):5'- GGCTTCAAGGGAAAAGCTGC -3'

Sequencing Primer
(F):5'- TCAGGCGTGATTCCCCCAC -3'
(R):5'- CCCGGGAAGAATTCTCCAAGATG -3'
Posted On 2017-08-16