Incidental Mutation 'IGL02965:Snx27'
ID 365555
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 # IGL02965
Quality Score
Status
Chromosome 3
Chromosomal Location 94404851-94490023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94489733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 42 (V42L)
Ref Sequence ENSEMBL: ENSMUSP00000102904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000199462]
AlphaFold Q3UHD6
Predicted Effect probably damaging
Transcript: ENSMUST00000029783
AA Change: V42L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: V42L

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: V42L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: V42L

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 possibly damaging
Transcript: ENSMUST00000199462
AA Change: V42L

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143378
Gene: ENSMUSG00000028136
AA Change: V42L

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDB:3QE1|A 39 58 9e-7 PDB
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,071,439 (GRCm39) K1471R probably benign Het
Add1 A G 5: 34,777,467 (GRCm39) S77G probably damaging Het
Atm G T 9: 53,364,863 (GRCm39) N2642K probably damaging Het
Atp6v0a2 T A 5: 124,767,267 (GRCm39) M10K possibly damaging Het
Btd T A 14: 31,389,193 (GRCm39) S305T probably damaging Het
Cmya5 C T 13: 93,229,065 (GRCm39) V2008I probably benign Het
Cpd T G 11: 76,681,814 (GRCm39) probably benign Het
Dis3l A G 9: 64,217,766 (GRCm39) F772L probably damaging Het
Dlg5 A T 14: 24,222,091 (GRCm39) I517N probably damaging Het
Fig4 G A 10: 41,161,661 (GRCm39) T34M probably damaging Het
Flna C T X: 73,270,816 (GRCm39) V2235I probably damaging Het
Flot2 T C 11: 77,950,031 (GRCm39) I371T possibly damaging Het
Fsip2 G A 2: 82,813,398 (GRCm39) S3239N probably benign Het
Gbp3 A G 3: 142,273,343 (GRCm39) I297V probably benign Het
Gcnt3 T C 9: 69,942,235 (GRCm39) E111G probably benign Het
Gdi1 G T X: 73,351,331 (GRCm39) A148S probably benign Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Hsp90aa1 A G 12: 110,662,113 (GRCm39) M1T probably null Het
Il22b A G 10: 118,130,762 (GRCm39) S45P probably damaging Het
Inppl1 C A 7: 101,477,478 (GRCm39) V715F possibly damaging Het
Kansl1 T C 11: 104,225,991 (GRCm39) Y975C probably damaging Het
Kif18b A G 11: 102,807,338 (GRCm39) probably benign Het
Krt40 T A 11: 99,432,492 (GRCm39) R175W probably damaging Het
Map3k19 T C 1: 127,751,803 (GRCm39) D516G probably damaging Het
Mfsd3 A G 15: 76,587,352 (GRCm39) H345R probably benign Het
Mlkl A T 8: 112,058,469 (GRCm39) I162N probably benign Het
Mtnr1a A T 8: 45,522,419 (GRCm39) N58I probably damaging Het
Nsmf T C 2: 24,951,774 (GRCm39) V499A probably damaging Het
Nudt6 A G 3: 37,473,655 (GRCm39) L22P probably damaging Het
Nxf7 T G X: 134,490,159 (GRCm39) E35A probably damaging Het
Or11h23 A C 14: 50,948,653 (GRCm39) I289L probably damaging Het
Paf1 T C 7: 28,095,629 (GRCm39) probably null Het
Pcdhb11 G T 18: 37,557,021 (GRCm39) V784L probably benign Het
Pglyrp2 T C 17: 32,637,560 (GRCm39) D156G probably benign Het
Pnpt1 A G 11: 29,106,939 (GRCm39) D670G probably damaging Het
Polr1b T A 2: 128,967,443 (GRCm39) H945Q probably benign Het
Ptk6 C T 2: 180,840,861 (GRCm39) probably benign Het
Rftn1 C T 17: 50,362,280 (GRCm39) E273K probably benign Het
Rnf125 A G 18: 21,116,168 (GRCm39) I117V probably benign Het
Robo4 A G 9: 37,321,765 (GRCm39) K742R possibly damaging Het
Sez6l T C 5: 112,623,440 (GRCm39) E37G probably damaging Het
Skint4 A T 4: 111,993,218 (GRCm39) I306L probably benign Het
Sntb1 A T 15: 55,506,081 (GRCm39) Y497* probably null Het
Sorbs1 T A 19: 40,365,187 (GRCm39) T199S probably benign Het
Sorcs2 A G 5: 36,235,301 (GRCm39) Y72H probably benign Het
Spef2 G T 15: 9,725,192 (GRCm39) probably benign Het
Sucla2 G T 14: 73,816,871 (GRCm39) V204L probably benign Het
Tescl C A 7: 24,033,098 (GRCm39) V76F probably damaging Het
Tnxb T A 17: 34,928,628 (GRCm39) Y2681N possibly damaging Het
Usp42 T C 5: 143,713,769 (GRCm39) T2A probably damaging Het
Vdac3-ps1 T A 13: 18,205,431 (GRCm39) noncoding transcript Het
Wapl T A 14: 34,461,181 (GRCm39) probably benign 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
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