Incidental Mutation 'R4425:Snx27'
ID 470084
Institutional Source Beutler Lab
Gene Symbol Snx27
Ensembl Gene ENSMUSG00000028136
Gene Name sorting nexin family member 27
Synonyms ESTM47, 5730552M22Rik
MMRRC Submission 041144-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4425 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94404851-94490023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94469330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 4 (F4L)
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 probably benign
Transcript: ENSMUST00000198426
SMART Domains Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
PX 1 93 5.11e-14 SMART
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
AA Change: F4L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: F4L

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: 95.3%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,236,870 (GRCm39) T1456A probably damaging Het
Acad11 T C 9: 103,950,844 (GRCm39) F56S probably damaging Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Amh A G 10: 80,642,755 (GRCm39) D313G probably damaging Het
Ampd2 T C 3: 107,994,052 (GRCm39) probably benign Het
Arap3 A G 18: 38,111,653 (GRCm39) L1115P probably damaging Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cd163 T C 6: 124,304,862 (GRCm39) S1080P possibly damaging Het
Ceacam10 A T 7: 24,480,433 (GRCm39) Y68F possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfh A T 1: 140,028,613 (GRCm39) Y688* probably null Het
Chrnb1 A T 11: 69,677,773 (GRCm39) S326R probably damaging Het
Cngb1 C T 8: 96,026,344 (GRCm39) V25M probably damaging Het
Cyp2c50 A T 19: 40,079,136 (GRCm39) N160Y possibly damaging Het
Dalrd3 T C 9: 108,448,800 (GRCm39) probably benign Het
Eef1d C A 15: 75,774,648 (GRCm39) S253I possibly damaging Het
Efl1 G A 7: 82,412,491 (GRCm39) C960Y probably damaging Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Epb41l2 C A 10: 25,382,078 (GRCm39) D701E possibly damaging Het
Fbxl4 T A 4: 22,422,699 (GRCm39) probably null Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Igkv10-95 A T 6: 68,657,606 (GRCm39) I21F probably damaging Het
Il10rb C A 16: 91,204,603 (GRCm39) N51K possibly damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lrig3 T C 10: 125,849,273 (GRCm39) S998P probably benign Het
Lrrc8c T A 5: 105,755,755 (GRCm39) M510K probably benign Het
Nfrkb G T 9: 31,311,258 (GRCm39) C369F probably damaging Het
Nphp1 T C 2: 127,630,719 (GRCm39) E19G possibly damaging Het
Or10a5 A C 7: 106,635,698 (GRCm39) E112A probably damaging Het
Or4f14b T C 2: 111,775,534 (GRCm39) H89R probably benign Het
Ovol3 A T 7: 29,934,789 (GRCm39) probably null Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Rims2 T C 15: 39,301,320 (GRCm39) probably null Het
Sh3rf3 T C 10: 58,919,398 (GRCm39) V505A probably benign Het
Shkbp1 T C 7: 27,042,727 (GRCm39) N570S probably benign Het
Slc35f4 C T 14: 49,556,307 (GRCm39) V149I possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tagap1 G A 17: 7,223,511 (GRCm39) S395L probably benign Het
Tcstv2b C A 13: 120,373,908 (GRCm39) L127F probably damaging Het
Tek A G 4: 94,751,904 (GRCm39) T1014A probably damaging Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpo T C 12: 30,154,015 (GRCm39) Y230C probably damaging Het
Trav12-2 A G 14: 53,854,332 (GRCm39) Q102R possibly damaging Het
Ttn G A 2: 76,733,430 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,973 (GRCm39) I259F probably benign Het
Vmn1r228 T C 17: 20,996,861 (GRCm39) E219G probably damaging Het
Vsig8 G T 1: 172,390,714 (GRCm39) G254V probably damaging Het
Vwa8 A G 14: 79,320,246 (GRCm39) I1086V probably benign Het
Zfp423 G A 8: 88,509,601 (GRCm39) H123Y probably damaging Het
Zfp811 A T 17: 33,016,521 (GRCm39) C506* 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
R4548:Snx27 UTSW 3 94,433,746 (GRCm39) intron probably benign
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 2017-03-06