Incidental Mutation 'R4548:Snx27'
ID 470209
Institutional Source Beutler Lab
Gene Symbol Snx27
Ensembl Gene ENSMUSG00000028136
Gene Name sorting nexin family member 27
Synonyms ESTM47, 5730552M22Rik
MMRRC Submission 041594-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4548 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94404851-94490023 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 94433746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000198426] [ENSMUST00000199462] [ENSMUST00000200642]
AlphaFold Q3UHD6
Predicted Effect probably benign
Transcript: ENSMUST00000029783
SMART Domains Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDZ 49 134 3.77e-19 SMART
PX 154 263 7.5e-21 SMART
Pfam:RA 271 360 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107283
SMART Domains Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDZ 49 134 3.77e-19 SMART
PX 154 263 7.5e-21 SMART
Pfam:RA 271 360 1.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196675
Predicted Effect probably benign
Transcript: ENSMUST00000198426
SMART Domains Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
PX 1 93 5.11e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198902
Predicted Effect probably benign
Transcript: ENSMUST00000199462
SMART Domains Protein: ENSMUSP00000143378
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDB:3QE1|A 39 58 9e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000200642
SMART Domains Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
PDB:3QGL|E 12 42 3e-12 PDB
PX 63 172 7.5e-21 SMART
Pfam:RA 180 269 5.3e-14 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,553,245 (GRCm39) F155L possibly damaging Het
Adcy6 A G 15: 98,496,540 (GRCm39) I545T probably damaging Het
Afg2a T A 3: 37,486,176 (GRCm39) N299K probably benign Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Anln T C 9: 22,274,184 (GRCm39) D551G possibly damaging Het
Arhgef17 T C 7: 100,580,336 (GRCm39) Q204R possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl2l11 A G 2: 127,971,566 (GRCm39) E75G probably benign Het
Cfap45 A G 1: 172,372,675 (GRCm39) I457V probably benign Het
Cfap65 G A 1: 74,946,771 (GRCm39) T1313I probably damaging Het
Cntln C A 4: 85,015,079 (GRCm39) H1123Q probably benign Het
Cops3 C T 11: 59,718,671 (GRCm39) probably null Het
Dis3l2 A T 1: 86,977,393 (GRCm39) T861S probably benign Het
Dnajc11 A G 4: 152,058,074 (GRCm39) N281S possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fras1 A G 5: 96,857,754 (GRCm39) D2016G probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Greb1 T C 12: 16,749,676 (GRCm39) D1050G probably damaging Het
Kcnh6 T C 11: 105,899,875 (GRCm39) F48S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mrm2 T C 5: 140,314,251 (GRCm39) T195A probably benign Het
Myzap T C 9: 71,457,528 (GRCm39) E289G possibly damaging Het
Nemp1 A G 10: 127,532,213 (GRCm39) E373G probably benign Het
Or13c7 T A 4: 43,854,834 (GRCm39) I175N probably damaging Het
Or8h10 T C 2: 86,809,014 (GRCm39) N42S probably damaging Het
Polr1c A T 17: 46,558,735 (GRCm39) probably null Het
Rev1 A G 1: 38,098,275 (GRCm39) M756T possibly damaging Het
Sacs A G 14: 61,429,387 (GRCm39) D482G probably damaging Het
Sfrp4 A G 13: 19,807,936 (GRCm39) M112V possibly damaging Het
Slc7a4 T C 16: 17,393,209 (GRCm39) T197A probably benign Het
Speer2 T C 16: 69,655,737 (GRCm39) K30E probably damaging Het
Ssh2 G A 11: 77,341,010 (GRCm39) A721T probably benign Het
Trappc3 A G 4: 126,166,544 (GRCm39) D39G possibly damaging Het
Ttc28 G A 5: 111,419,090 (GRCm39) S1362N possibly damaging Het
Ugt2b35 A T 5: 87,156,134 (GRCm39) K409* probably null Het
Vmn2r92 A T 17: 18,391,578 (GRCm39) M527L probably benign Het
Zbed5 T A 5: 129,931,692 (GRCm39) L547* probably null Het
Other mutations in Snx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Snx27 APN 3 94,469,279 (GRCm39) missense probably damaging 1.00
IGL01061:Snx27 APN 3 94,436,287 (GRCm39) splice site probably benign
IGL01598:Snx27 APN 3 94,469,150 (GRCm39) missense probably damaging 1.00
IGL02276:Snx27 APN 3 94,438,686 (GRCm39) missense probably damaging 1.00
IGL02558:Snx27 APN 3 94,410,188 (GRCm39) missense probably damaging 0.99
IGL02748:Snx27 APN 3 94,410,872 (GRCm39) missense probably benign 0.04
IGL02817:Snx27 APN 3 94,410,770 (GRCm39) missense probably damaging 1.00
IGL02965:Snx27 APN 3 94,489,733 (GRCm39) missense probably damaging 0.99
R0733:Snx27 UTSW 3 94,469,320 (GRCm39) missense probably benign 0.03
R1241:Snx27 UTSW 3 94,427,540 (GRCm39) missense probably benign 0.18
R1882:Snx27 UTSW 3 94,426,416 (GRCm39) missense probably damaging 0.97
R2517:Snx27 UTSW 3 94,438,541 (GRCm39) missense probably damaging 1.00
R3850:Snx27 UTSW 3 94,427,542 (GRCm39) missense probably benign 0.00
R3964:Snx27 UTSW 3 94,438,613 (GRCm39) missense probably damaging 1.00
R4035:Snx27 UTSW 3 94,431,551 (GRCm39) missense probably damaging 0.99
R4172:Snx27 UTSW 3 94,410,794 (GRCm39) missense probably benign 0.00
R4424:Snx27 UTSW 3 94,469,330 (GRCm39) missense probably benign 0.03
R4425:Snx27 UTSW 3 94,469,330 (GRCm39) missense probably benign 0.03
R4820:Snx27 UTSW 3 94,427,518 (GRCm39) missense probably damaging 1.00
R5114:Snx27 UTSW 3 94,431,551 (GRCm39) missense probably damaging 1.00
R5672:Snx27 UTSW 3 94,410,157 (GRCm39) splice site probably null
R5877:Snx27 UTSW 3 94,410,270 (GRCm39) missense probably damaging 1.00
R7138:Snx27 UTSW 3 94,436,247 (GRCm39) missense probably benign 0.04
R7284:Snx27 UTSW 3 94,431,498 (GRCm39) missense probably damaging 0.97
R7403:Snx27 UTSW 3 94,436,233 (GRCm39) missense probably damaging 1.00
R7593:Snx27 UTSW 3 94,410,272 (GRCm39) missense possibly damaging 0.83
R7827:Snx27 UTSW 3 94,426,366 (GRCm39) missense probably benign 0.11
R9320:Snx27 UTSW 3 94,431,593 (GRCm39) missense probably damaging 0.96
R9326:Snx27 UTSW 3 94,409,369 (GRCm39) missense probably damaging 0.99
R9467:Snx27 UTSW 3 94,489,723 (GRCm39) missense possibly damaging 0.46
X0057:Snx27 UTSW 3 94,431,581 (GRCm39) missense possibly damaging 0.84
Predicted Primers
Posted On 2017-03-07