Incidental Mutation 'R4157:Snx22'
ID 315583
Institutional Source Beutler Lab
Gene Symbol Snx22
Ensembl Gene ENSMUSG00000039452
Gene Name sorting nexin 22
Synonyms LOC382083
MMRRC Submission 041000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4157 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65972458-65977001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65975493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 92 (Y92C)
Ref Sequence ENSEMBL: ENSMUSP00000044389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034947] [ENSMUST00000044711]
AlphaFold Q8C084
Predicted Effect probably benign
Transcript: ENSMUST00000034947
SMART Domains Protein: ENSMUSP00000034947
Gene: ENSMUSG00000032383

DomainStartEndE-ValueType
Pfam:Pro_isomerase 47 204 2.1e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000044711
AA Change: Y92C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044389
Gene: ENSMUSG00000039452
AA Change: Y92C

DomainStartEndE-ValueType
PX 4 108 2.09e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214332
Meta Mutation Damage Score 0.1542 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 95% (52/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,070,414 (GRCm39) R585L probably damaging Het
Adamtsl5 C T 10: 80,181,156 (GRCm39) R75Q probably null Het
Ankrd26 T A 6: 118,484,782 (GRCm39) Q1485L probably damaging Het
Apbb2 G A 5: 66,459,947 (GRCm39) R717* probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,365,591 (GRCm39) E735G probably damaging Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
C4b A G 17: 34,961,829 (GRCm39) I139T probably damaging Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdk8 A T 5: 146,236,259 (GRCm39) probably benign Het
Ctif T C 18: 75,568,341 (GRCm39) H599R probably benign Het
Degs1 A G 1: 182,110,192 (GRCm39) I26T possibly damaging Het
Dnajc4 T C 19: 6,967,208 (GRCm39) N72S probably damaging Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Gm3486 G A 14: 41,208,343 (GRCm39) L123F probably benign Het
Inpp5f C T 7: 128,281,423 (GRCm39) probably benign Het
Irx4 A T 13: 73,413,662 (GRCm39) Q44L probably benign Het
Krt9 T A 11: 100,079,475 (GRCm39) Y639F unknown Het
Lgals9 C A 11: 78,863,933 (GRCm39) V71L possibly damaging Het
Mdga1 T C 17: 30,052,317 (GRCm39) N143S probably benign Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Nup50l C G 6: 96,142,264 (GRCm39) W260S possibly damaging Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Orm2 T A 4: 63,282,222 (GRCm39) F133L probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Pidd1 A G 7: 141,021,279 (GRCm39) V333A possibly damaging Het
Ppp4r3a A G 12: 101,021,878 (GRCm39) F341L probably damaging Het
Rab11fip1 A T 8: 27,642,175 (GRCm39) S875T probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Swt1 A T 1: 151,278,795 (GRCm39) V454E probably damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b A G 14: 16,384,491 (GRCm38) N80S probably benign Het
Trim7 T C 11: 48,738,920 (GRCm39) V313A probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Ubr3 T C 2: 69,790,013 (GRCm39) probably null Het
Utp20 A G 10: 88,597,729 (GRCm39) V121A probably benign Het
Wdr20 G A 12: 110,704,608 (GRCm39) R49H possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp398 A T 6: 47,812,843 (GRCm39) T5S probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Zfp523 C T 17: 28,421,257 (GRCm39) A367V probably benign Het
Zfp748 G A 13: 67,690,225 (GRCm39) S345L possibly damaging Het
Other mutations in Snx22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Snx22 APN 9 65,976,060 (GRCm39) missense probably damaging 1.00
IGL02216:Snx22 APN 9 65,976,470 (GRCm39) missense probably benign 0.00
R0546:Snx22 UTSW 9 65,976,059 (GRCm39) missense probably damaging 1.00
R6250:Snx22 UTSW 9 65,976,923 (GRCm39) nonsense probably null
R8231:Snx22 UTSW 9 65,975,480 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTATCAGAACCAGGCCAGG -3'
(R):5'- ATTTGACTAGCCTGCCCAC -3'

Sequencing Primer
(F):5'- GGCCCAGTCCGTTCAAAAAGG -3'
(R):5'- GACTAGCCTGCCCACTTTGTG -3'
Posted On 2015-05-14