Incidental Mutation 'IGL02817:Snx27'
ID 360837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx27
Ensembl Gene ENSMUSG00000028136
Gene Name sorting nexin family member 27
Synonyms ESTM47, 5730552M22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02817
Quality Score
Status
Chromosome 3
Chromosomal Location 94404851-94490023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94410770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 460 (L460P)
Ref Sequence ENSEMBL: ENSMUSP00000102904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000199462] [ENSMUST00000200642]
AlphaFold Q3UHD6
Predicted Effect probably damaging
Transcript: ENSMUST00000029783
AA Change: L460P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: L460P

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 damaging
Transcript: ENSMUST00000107283
AA Change: L460P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: L460P

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: ENSMUST00000196251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196675
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: L369P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: L369P

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ash1l C A 3: 88,892,108 (GRCm39) P1329H probably damaging Het
Bpifb3 T C 2: 153,761,566 (GRCm39) V5A unknown Het
Cep350 A G 1: 155,804,588 (GRCm39) S832P probably damaging Het
Chd1 A T 17: 15,969,762 (GRCm39) H947L possibly damaging Het
Clec4b1 A T 6: 123,045,444 (GRCm39) H88L possibly damaging Het
Col4a1 A G 8: 11,270,259 (GRCm39) L859P probably damaging Het
Cyp2f2 T A 7: 26,828,740 (GRCm39) N203K probably damaging Het
Dgka G A 10: 128,566,097 (GRCm39) T351I probably benign Het
Dmc1 G A 15: 79,472,964 (GRCm39) T161I probably damaging Het
Dnah8 A G 17: 30,887,269 (GRCm39) N688D probably benign Het
Dpy19l3 A G 7: 35,392,233 (GRCm39) L653P probably damaging Het
Drc3 A G 11: 60,275,062 (GRCm39) E341G probably benign Het
Fcrl5 T G 3: 87,343,220 (GRCm39) V10G probably benign Het
Fgfr4 T C 13: 55,304,481 (GRCm39) probably null Het
Gli2 T C 1: 118,764,101 (GRCm39) H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 (GRCm38) S30P probably benign Het
Grik4 T C 9: 42,534,235 (GRCm39) N349S probably benign Het
Ifnar2 G T 16: 91,184,880 (GRCm39) K90N probably benign Het
Kcp A T 6: 29,496,968 (GRCm39) I547N probably damaging Het
L3mbtl4 A T 17: 68,937,249 (GRCm39) E423D probably benign Het
Mapkap1 T C 2: 34,453,130 (GRCm39) L341P probably damaging Het
Mdm1 A G 10: 118,000,251 (GRCm39) Q618R possibly damaging Het
Medag A T 5: 149,350,503 (GRCm39) R51* probably null Het
Myo1f G A 17: 33,823,532 (GRCm39) R1020K probably benign Het
Myrf T C 19: 10,202,816 (GRCm39) N153D probably benign Het
Naf1 T C 8: 67,336,177 (GRCm39) I368T probably damaging Het
Nalf1 A T 8: 9,257,994 (GRCm39) C385S probably damaging Het
Ncapd2 A G 6: 125,147,877 (GRCm39) probably null Het
Nsfl1c T A 2: 151,342,651 (GRCm39) S74T probably damaging Het
Or2a51 A T 6: 43,178,993 (GRCm39) R138S probably benign Het
Or6c68 A G 10: 129,157,764 (GRCm39) T91A probably benign Het
Or8h7 T C 2: 86,720,937 (GRCm39) N194S probably benign Het
Ptgfrn T A 3: 100,968,068 (GRCm39) E508D probably benign Het
Ryr3 C A 2: 112,674,968 (GRCm39) probably null Het
Sp4 G T 12: 118,263,287 (GRCm39) T253K probably damaging Het
Trio T C 15: 27,902,967 (GRCm39) I165V probably benign Het
Txnl4b A G 8: 110,299,478 (GRCm39) Y146C probably damaging Het
Vmn1r42 A G 6: 89,822,518 (GRCm39) M17T probably damaging Het
Zer1 T C 2: 29,993,406 (GRCm39) I567V probably damaging 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
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
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
Posted On 2015-12-18