Incidental Mutation 'IGL02197:Vps26c'
ID 284106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps26c
Ensembl Gene ENSMUSG00000022898
Gene Name VPS26 endosomal protein sorting factor C
Synonyms Dscr3, Down syndrome critical region gene 3, Dcra
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02197
Quality Score
Status
Chromosome 16
Chromosomal Location 94298583-94327488 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 94302549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023615] [ENSMUST00000125229]
AlphaFold O35075
Predicted Effect probably benign
Transcript: ENSMUST00000023615
SMART Domains Protein: ENSMUSP00000023615
Gene: ENSMUSG00000022898

DomainStartEndE-ValueType
Pfam:Vps26 3 283 2.5e-79 PFAM
Pfam:Arrestin_N 5 144 9.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232569
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 T C 2: 20,885,117 (GRCm39) S526G probably benign Het
Atad2b A T 12: 5,068,056 (GRCm39) N1018I possibly damaging Het
Baz1b A G 5: 135,237,951 (GRCm39) E209G probably benign Het
Bltp1 A G 3: 36,960,884 (GRCm39) T445A probably damaging Het
Capn11 T A 17: 45,950,782 (GRCm39) T264S probably benign Het
Cdh1 A G 8: 107,380,418 (GRCm39) E187G probably benign Het
Cps1 A G 1: 67,196,923 (GRCm39) I325V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dmbt1 A G 7: 130,687,152 (GRCm39) probably benign Het
Dnaaf3 T C 7: 4,530,496 (GRCm39) D203G probably damaging Het
Eif2ak3 A G 6: 70,878,441 (GRCm39) Y1045C probably benign Het
Fam13a T A 6: 58,912,586 (GRCm39) D689V possibly damaging Het
Fnip1 T A 11: 54,384,200 (GRCm39) L342I probably damaging Het
Frk T A 10: 34,360,330 (GRCm39) N110K probably damaging Het
Gm5134 T C 10: 75,790,536 (GRCm39) probably null Het
Gm53 T C 11: 96,142,549 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,163 (GRCm39) noncoding transcript Het
Gm9936 A G 5: 114,995,152 (GRCm39) probably benign Het
Hk3 A G 13: 55,162,281 (GRCm39) F108L probably damaging Het
Homer2 A T 7: 81,260,147 (GRCm39) S296T probably benign Het
Itga2b T A 11: 102,357,145 (GRCm39) H245L probably benign Het
Ky T C 9: 102,414,985 (GRCm39) F299S possibly damaging Het
Lama5 A G 2: 179,849,012 (GRCm39) Y224H possibly damaging Het
Leng9 G T 7: 4,151,723 (GRCm39) L318I probably damaging Het
Lpin1 A G 12: 16,608,408 (GRCm39) probably null Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Map2k3 A G 11: 60,837,590 (GRCm39) Y230C probably damaging Het
Myef2 T C 2: 124,955,959 (GRCm39) probably null Het
Myh3 A T 11: 66,989,409 (GRCm39) I1510L probably benign Het
Mypn T C 10: 62,959,057 (GRCm39) D1088G possibly damaging Het
Nek9 C A 12: 85,354,704 (GRCm39) V745L probably null Het
Neu1 T A 17: 35,153,641 (GRCm39) V355D possibly damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or4c107 A G 2: 88,789,028 (GRCm39) T73A probably benign Het
Or6e1 T C 14: 54,519,409 (GRCm39) *314W probably null Het
Papola A T 12: 105,795,442 (GRCm39) N631I possibly damaging Het
Pcnx1 T C 12: 81,965,878 (GRCm39) S682P probably benign Het
Pcnx1 T C 12: 82,039,925 (GRCm39) S2071P possibly damaging Het
Pga5 A G 19: 10,649,277 (GRCm39) probably benign Het
Phlda1 T A 10: 111,343,014 (GRCm39) M250K probably damaging Het
Phox2b A G 5: 67,253,869 (GRCm39) probably benign Het
Pkdrej A G 15: 85,699,994 (GRCm39) Y1981H possibly damaging Het
Pold1 G A 7: 44,191,663 (GRCm39) P108S probably benign Het
Ptprg T G 14: 12,220,613 (GRCm38) F442V probably damaging Het
Rab36 A G 10: 74,887,874 (GRCm39) I248M probably damaging Het
Scnn1b G A 7: 121,502,113 (GRCm39) R257Q probably null Het
Sdc1 A G 12: 8,840,835 (GRCm39) Q200R possibly damaging Het
Slc10a7 A G 8: 79,242,292 (GRCm39) T60A probably damaging Het
Snx13 A G 12: 35,156,800 (GRCm39) D484G probably damaging Het
Tlr1 G A 5: 65,083,797 (GRCm39) T260M probably damaging Het
Tpcn1 A G 5: 120,691,596 (GRCm39) V286A probably damaging Het
Traip T G 9: 107,845,936 (GRCm39) L343R possibly damaging Het
Unc13b A G 4: 43,165,828 (GRCm39) H204R probably damaging Het
Unc80 A G 1: 66,569,224 (GRCm39) S960G probably benign Het
V1ra8 C T 6: 90,180,184 (GRCm39) P129L probably benign Het
Vps13b T A 15: 35,930,202 (GRCm39) F3980I probably benign Het
Vps13d T C 4: 144,854,879 (GRCm39) N2248S probably benign Het
Wnk4 T C 11: 101,154,783 (GRCm39) L324P probably damaging Het
Other mutations in Vps26c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0644:Vps26c UTSW 16 94,303,054 (GRCm39) missense probably damaging 1.00
R1256:Vps26c UTSW 16 94,313,225 (GRCm39) missense probably damaging 1.00
R1973:Vps26c UTSW 16 94,302,405 (GRCm39) missense probably damaging 0.99
R2286:Vps26c UTSW 16 94,313,112 (GRCm39) missense possibly damaging 0.69
R3854:Vps26c UTSW 16 94,311,665 (GRCm39) missense probably benign 0.01
R3855:Vps26c UTSW 16 94,311,665 (GRCm39) missense probably benign 0.01
R5067:Vps26c UTSW 16 94,327,263 (GRCm39) unclassified probably benign
R7578:Vps26c UTSW 16 94,299,928 (GRCm39) missense probably damaging 0.99
R7956:Vps26c UTSW 16 94,302,505 (GRCm39) missense probably damaging 1.00
R8944:Vps26c UTSW 16 94,302,481 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16