Incidental Mutation 'R3855:Vps26c'
ID 276134
Institutional Source Beutler Lab
Gene Symbol Vps26c
Ensembl Gene ENSMUSG00000022898
Gene Name VPS26 endosomal protein sorting factor C
Synonyms Dscr3, Down syndrome critical region gene 3, Dcra
MMRRC Submission 040901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R3855 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94298583-94327488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94311665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 95 (F95L)
Ref Sequence ENSEMBL: ENSMUSP00000156097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023615] [ENSMUST00000125229]
AlphaFold O35075
Predicted Effect probably benign
Transcript: ENSMUST00000023615
AA Change: F95L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000023615
Gene: ENSMUSG00000022898
AA Change: F95L

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
AA Change: F95L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210205
Meta Mutation Damage Score 0.1423 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna A T 4: 63,291,705 (GRCm39) S1144R probably damaging Het
Apbb1ip T C 2: 22,765,187 (GRCm39) S623P unknown Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Ccnq T C 11: 78,642,013 (GRCm39) N159S probably benign Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Cog2 T C 8: 125,256,742 (GRCm39) probably null Het
Dennd4c G A 4: 86,698,084 (GRCm39) V191M probably damaging Het
Dthd1 T A 5: 62,984,472 (GRCm39) H392Q probably benign Het
Dthd1 T C 5: 63,045,366 (GRCm39) V710A probably benign Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm4868 A G 5: 125,925,609 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,232,260 (GRCm39) E648G probably damaging Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Itgb3bp T C 4: 99,686,957 (GRCm39) E76G possibly damaging Het
Khk A G 5: 31,084,401 (GRCm39) D82G probably benign Het
Kif17 A G 4: 138,018,821 (GRCm39) S533G probably benign Het
Kmt2a A G 9: 44,741,796 (GRCm39) probably benign Het
Kmt5c T C 7: 4,749,255 (GRCm39) F104S probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Nbas T A 12: 13,329,415 (GRCm39) I120N possibly damaging Het
Nfia A G 4: 97,951,259 (GRCm39) H362R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nme5 A G 18: 34,702,884 (GRCm39) S135P possibly damaging Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Nufip2 T C 11: 77,583,715 (GRCm39) V543A probably damaging Het
Or1l4b A T 2: 37,036,835 (GRCm39) I204F possibly damaging Het
Or2y10 A G 11: 49,454,918 (GRCm39) T57A probably damaging Het
Otog T C 7: 45,923,184 (GRCm39) S1020P possibly damaging Het
Pear1 T C 3: 87,659,228 (GRCm39) H814R possibly damaging Het
Pkd1l1 A G 11: 8,915,047 (GRCm39) probably null Het
Pla2g4a T A 1: 149,705,928 (GRCm39) I711F possibly damaging Het
Ppig G A 2: 69,579,719 (GRCm39) V418I unknown Het
Prg4 T C 1: 150,327,751 (GRCm39) Y234C probably damaging Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sepsecs G A 5: 52,821,616 (GRCm39) R74C probably damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Sh3bp1 C T 15: 78,785,361 (GRCm39) probably benign Het
Sox11 C A 12: 27,391,501 (GRCm39) G303C probably damaging Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Xylt1 T G 7: 117,192,777 (GRCm39) L361R probably damaging Het
Zfp512 A G 5: 31,637,593 (GRCm39) R505G possibly damaging Het
Other mutations in Vps26c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Vps26c APN 16 94,302,549 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACACACAGGAGCAGTCTTGG -3'
(R):5'- CATCAGTACTGTGCTACCAAGACAC -3'

Sequencing Primer
(F):5'- CACAGGAGCAGTCTTGGAATCAATC -3'
(R):5'- CTGTGCTACCAAGACACAGGAG -3'
Posted On 2015-04-06