Incidental Mutation 'R6867:Vps28'
ID 535993
Institutional Source Beutler Lab
Gene Symbol Vps28
Ensembl Gene ENSMUSG00000115987
Gene Name vacuolar protein sorting 28
Synonyms 1110014J03Rik, D730005C08Rik
MMRRC Submission 045028-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R6867 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76506286-76510284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76506871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 109 (I109N)
Ref Sequence ENSEMBL: ENSMUSP00000155847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078803] [ENSMUST00000168185] [ENSMUST00000229019]
AlphaFold Q9D1C8
Predicted Effect probably damaging
Transcript: ENSMUST00000078803
AA Change: I147N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077856
Gene: ENSMUSG00000115987
AA Change: I147N

DomainStartEndE-ValueType
Pfam:VPS28 39 219 2.2e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165163
SMART Domains Protein: ENSMUSP00000131229
Gene: ENSMUSG00000059323

DomainStartEndE-ValueType
low complexity region 33 51 N/A INTRINSIC
low complexity region 52 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168185
SMART Domains Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323

DomainStartEndE-ValueType
TPR 27 60 5.33e1 SMART
Blast:TPR 67 100 7e-9 BLAST
TPR 162 195 1.77e1 SMART
TPR 202 235 1.36e1 SMART
Pfam:TPR_8 242 274 8.7e-3 PFAM
TPR 311 344 1.4e1 SMART
TPR 352 385 7.27e0 SMART
low complexity region 413 437 N/A INTRINSIC
low complexity region 465 494 N/A INTRINSIC
low complexity region 500 511 N/A INTRINSIC
ANK 528 559 8.36e1 SMART
ANK 561 590 4.85e-8 SMART
ANK 597 626 2.85e-5 SMART
low complexity region 690 707 N/A INTRINSIC
low complexity region 729 753 N/A INTRINSIC
low complexity region 1031 1044 N/A INTRINSIC
LRR 1058 1085 2.86e-1 SMART
LRR 1086 1113 5.88e-1 SMART
LRR 1117 1144 1.67e-2 SMART
LRR 1177 1204 2.72e0 SMART
LRR 1236 1263 7.02e0 SMART
LRR 1264 1292 1.46e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229019
AA Change: I109N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: This gene encodes a protein which is thought to be a subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apold1 T C 6: 134,961,019 (GRCm39) S158P possibly damaging Het
Cep162 A T 9: 87,099,134 (GRCm39) L788* probably null Het
Cyp7b1 T C 3: 18,151,394 (GRCm39) Y273C probably damaging Het
Dlx1 C A 2: 71,361,353 (GRCm39) N122K probably damaging Het
Dock10 A T 1: 80,508,976 (GRCm39) I1605K probably damaging Het
Enox1 T C 14: 77,936,739 (GRCm39) probably null Het
F3 T C 3: 121,523,020 (GRCm39) S77P possibly damaging Het
Fam186a T A 15: 99,843,731 (GRCm39) I838L unknown Het
Flrt2 T C 12: 95,746,156 (GRCm39) F165L probably damaging Het
Gcgr T A 11: 120,427,295 (GRCm39) V135E possibly damaging Het
Gm6741 T C 17: 91,544,339 (GRCm39) L34P probably benign Het
Gna13 T C 11: 109,286,948 (GRCm39) M257T possibly damaging Het
Hsd11b2 G A 8: 106,248,949 (GRCm39) R147H probably benign Het
Hydin A G 8: 111,266,434 (GRCm39) Y2865C probably benign Het
Igdcc3 A G 9: 65,090,320 (GRCm39) N610D probably damaging Het
Ipp T A 4: 116,367,606 (GRCm39) probably null Het
Kdm5d A G Y: 927,425 (GRCm39) T682A probably benign Het
Megf8 A G 7: 25,030,460 (GRCm39) Y471C probably benign Het
Mprip T C 11: 59,640,456 (GRCm39) probably null Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myrfl T A 10: 116,684,187 (GRCm39) R179* probably null Het
Nek1 C A 8: 61,525,364 (GRCm39) Q601K possibly damaging Het
Neurod4 C G 10: 130,106,583 (GRCm39) K230N probably damaging Het
Or1ab2 C T 8: 72,863,707 (GRCm39) T99I possibly damaging Het
Or8u10 A G 2: 85,916,082 (GRCm39) I13T possibly damaging Het
Orc3 A G 4: 34,605,539 (GRCm39) L114P probably damaging Het
Rag1 T C 2: 101,472,292 (GRCm39) D950G probably damaging Het
Rasgrp2 G A 19: 6,463,213 (GRCm39) S504N probably benign Het
Rgl2 A G 17: 34,151,661 (GRCm39) D235G probably benign Het
Slc35e2 A G 4: 155,703,157 (GRCm39) E390G probably benign Het
Slc39a1 T A 3: 90,156,759 (GRCm39) V105E probably damaging Het
Tesk2 T A 4: 116,658,995 (GRCm39) C291S probably damaging Het
Tmco3 T A 8: 13,363,927 (GRCm39) F83Y probably damaging Het
Trim25 T C 11: 88,901,713 (GRCm39) I336T probably benign Het
Ush2a A G 1: 188,643,170 (GRCm39) I4177M probably damaging Het
Veph1 T A 3: 66,162,458 (GRCm39) T67S probably damaging Het
Vmn2r43 A G 7: 8,258,125 (GRCm39) F363L probably benign Het
Vps50 A G 6: 3,517,835 (GRCm39) D91G probably benign Het
Wdr20 T C 12: 110,760,133 (GRCm39) F340L probably benign Het
Wdr95 A G 5: 149,504,388 (GRCm39) probably null Het
Zfand6 A G 7: 84,265,122 (GRCm39) V193A probably damaging Het
Zfp703 C A 8: 27,468,668 (GRCm39) P111T probably damaging Het
Predicted Primers PCR Primer
(F):5'- AACTCACCACTGGCTGACTG -3'
(R):5'- GAGTTGTGATCCCAAATGTCCG -3'

Sequencing Primer
(F):5'- ACCACTGGCTGACTGTCTGG -3'
(R):5'- CAGACAGGTCTTAAGTGTAGCCC -3'
Posted On 2018-10-18