Incidental Mutation 'IGL02276:Snx27'
ID287342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx27
Ensembl Gene ENSMUSG00000028136
Gene Namesorting nexin family member 27
SynonymsESTM47, 5730552M22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02276
Quality Score
Status
Chromosome3
Chromosomal Location94497544-94582716 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 94531379 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 183 (V183D)
Ref Sequence ENSEMBL: ENSMUSP00000102904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000198426] [ENSMUST00000199462] [ENSMUST00000200642]
Predicted Effect probably damaging
Transcript: ENSMUST00000029783
AA Change: V183D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: V183D

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: V183D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: V183D

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 damaging
Transcript: ENSMUST00000198426
AA Change: V13D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136
AA Change: V13D

DomainStartEndE-ValueType
PX 1 93 5.11e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198548
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 damaging
Transcript: ENSMUST00000200642
AA Change: V92D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: V92D

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,559,128 V1140A probably damaging Het
B020004J07Rik T C 4: 101,838,109 S2G possibly damaging Het
Ccdc88b A G 19: 6,856,107 probably null Het
Cep135 A G 5: 76,634,246 N904S probably benign Het
Dnajc12 G A 10: 63,408,258 R109Q probably damaging Het
Dpp4 A G 2: 62,356,951 probably benign Het
Duox2 A T 2: 122,294,085 N380K probably benign Het
Dusp11 A T 6: 85,958,617 D91E probably damaging Het
Fkbp15 C A 4: 62,336,466 E266* probably null Het
Gm10337 A G 15: 102,503,734 V324A probably damaging Het
Gm4951 A T 18: 60,246,079 I229F probably damaging Het
Grik3 A T 4: 125,623,502 D46V possibly damaging Het
Hdac9 G A 12: 34,431,926 T181I probably damaging Het
Large1 T A 8: 72,818,093 M686L probably benign Het
Lca5 C A 9: 83,398,585 L387F possibly damaging Het
Mtmr9 A T 14: 63,530,276 W295R probably damaging Het
Olfr132 A G 17: 38,130,593 S200P probably damaging Het
Olfr194 A C 16: 59,120,015 D18E probably benign Het
Phf20l1 T A 15: 66,615,410 probably null Het
Plce1 A G 19: 38,524,757 S167G probably benign Het
Plekha6 C A 1: 133,293,861 D934E possibly damaging Het
Ptpn6 A C 6: 124,728,865 D105E probably null Het
Rtp1 T C 16: 23,431,313 S143P probably benign Het
Rttn A C 18: 89,048,454 Q1208P possibly damaging Het
Stim2 T C 5: 54,053,370 probably benign Het
Trak1 A T 9: 121,451,668 E271D probably damaging Het
Ttn A T 2: 76,943,882 probably benign Het
Vmn2r4 G A 3: 64,406,456 T279I possibly damaging Het
Vmn2r73 A T 7: 85,869,772 probably null Het
Zfp819 G A 7: 43,612,004 V32I possibly damaging Het
Other mutations in Snx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Snx27 APN 3 94561972 missense probably damaging 1.00
IGL01061:Snx27 APN 3 94528980 splice site probably benign
IGL01598:Snx27 APN 3 94561843 missense probably damaging 1.00
IGL02558:Snx27 APN 3 94502881 missense probably damaging 0.99
IGL02748:Snx27 APN 3 94503565 missense probably benign 0.04
IGL02817:Snx27 APN 3 94503463 missense probably damaging 1.00
IGL02965:Snx27 APN 3 94582426 missense probably damaging 0.99
R0733:Snx27 UTSW 3 94562013 missense probably benign 0.03
R1241:Snx27 UTSW 3 94520233 missense probably benign 0.18
R1882:Snx27 UTSW 3 94519109 missense probably damaging 0.97
R2517:Snx27 UTSW 3 94531234 missense probably damaging 1.00
R3850:Snx27 UTSW 3 94520235 missense probably benign 0.00
R3964:Snx27 UTSW 3 94531306 missense probably damaging 1.00
R4035:Snx27 UTSW 3 94524244 missense probably damaging 0.99
R4172:Snx27 UTSW 3 94503487 missense probably benign 0.00
R4424:Snx27 UTSW 3 94562023 missense probably benign 0.03
R4425:Snx27 UTSW 3 94562023 missense probably benign 0.03
R4548:Snx27 UTSW 3 94526439 intron probably benign
R4820:Snx27 UTSW 3 94520211 missense probably damaging 1.00
R5114:Snx27 UTSW 3 94524244 missense probably damaging 1.00
R5672:Snx27 UTSW 3 94502850 splice site probably null
R5877:Snx27 UTSW 3 94502963 missense probably damaging 1.00
R7138:Snx27 UTSW 3 94528940 missense probably benign 0.04
R7284:Snx27 UTSW 3 94524191 missense probably damaging 0.97
R7403:Snx27 UTSW 3 94528926 missense probably damaging 1.00
R7593:Snx27 UTSW 3 94502965 missense possibly damaging 0.83
R7827:Snx27 UTSW 3 94519059 missense probably benign 0.11
X0057:Snx27 UTSW 3 94524274 missense possibly damaging 0.84
Posted On2015-04-16