Incidental Mutation 'IGL01098:Vps52'
ID53059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps52
Ensembl Gene ENSMUSG00000024319
Gene NameVPS52 GARP complex subunit
Synonymstclw5, ARE1, Sacm2l, D430041K17Rik, tcl-w5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01098
Quality Score
Status
Chromosome17
Chromosomal Location33955812-33966984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33962730 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 510 (T510I)
Ref Sequence ENSEMBL: ENSMUSP00000025178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025178] [ENSMUST00000173196]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025178
AA Change: T510I

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025178
Gene: ENSMUSG00000024319
AA Change: T510I

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
low complexity region 24 45 N/A INTRINSIC
Pfam:Sec3_C 79 244 4.6e-13 PFAM
Pfam:Vps52 94 601 5.1e-233 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172558
Predicted Effect possibly damaging
Transcript: ENSMUST00000173196
AA Change: T442I

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133926
Gene: ENSMUSG00000024319
AA Change: T442I

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:Vps52 88 120 2.7e-6 PFAM
Pfam:Vps52 116 527 3e-181 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174588
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 protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null mutation display early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,533 D75G possibly damaging Het
Brip1 G T 11: 86,108,862 R765S possibly damaging Het
Btbd16 T C 7: 130,823,245 I452T probably damaging Het
Cdc42ep4 T G 11: 113,729,502 D21A probably damaging Het
Cdx2 T A 5: 147,306,982 M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Csmd2 C T 4: 128,059,052 T98M probably damaging Het
Cyp26a1 A T 19: 37,700,002 Q324L probably benign Het
Etaa1 A G 11: 17,946,059 V686A probably damaging Het
Gpr6 G A 10: 41,070,743 T281I probably damaging Het
Herc1 T A 9: 66,461,922 probably null Het
Lama2 A T 10: 27,031,112 I2351N possibly damaging Het
Lman1 A G 18: 65,991,640 F343L probably damaging Het
Lmo1 A G 7: 109,143,450 probably benign Het
Lrrc17 T A 5: 21,575,271 F414L probably benign Het
Man2b2 A T 5: 36,815,556 L538Q probably damaging Het
Map3k9 A G 12: 81,724,154 S910P probably damaging Het
Mapk1ip1 G A 7: 138,836,462 P80S probably damaging Het
Mindy4 G T 6: 55,284,742 probably benign Het
Msh4 A T 3: 153,877,982 probably benign Het
Mta2 A G 19: 8,946,717 D187G probably damaging Het
Olfml2a A G 2: 38,947,214 probably null Het
Pink1 A T 4: 138,320,097 probably null Het
Plekha6 T C 1: 133,282,165 F575L possibly damaging Het
Rpe C A 1: 66,706,515 D71E probably benign Het
Slc5a7 C T 17: 54,292,960 A142T probably benign Het
Sptbn1 C T 11: 30,159,385 R70K probably damaging Het
Taf1c G T 8: 119,602,841 Q159K probably damaging Het
Tgfb1i1 T C 7: 128,252,521 F311S probably damaging Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmed8 G T 12: 87,176,671 A98E probably benign Het
Tmem200a A G 10: 25,994,143 I76T probably damaging Het
Vmn2r104 T C 17: 20,048,096 E37G probably benign Het
Vmn2r18 A T 5: 151,572,831 V474E probably damaging Het
Wwox G T 8: 114,445,378 G71* probably null Het
Zer1 C T 2: 30,108,220 probably null Het
Zfp296 A T 7: 19,577,920 K117N possibly damaging Het
Other mutations in Vps52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Vps52 APN 17 33956958 missense possibly damaging 0.96
IGL01705:Vps52 APN 17 33966068 missense probably damaging 1.00
IGL01722:Vps52 APN 17 33961615 nonsense probably null
IGL02992:Vps52 APN 17 33958350 missense probably damaging 0.97
IGL03279:Vps52 APN 17 33957874 missense probably damaging 0.96
R0363:Vps52 UTSW 17 33962117 missense probably benign 0.26
R0762:Vps52 UTSW 17 33960011 missense probably damaging 1.00
R1065:Vps52 UTSW 17 33961239 missense probably benign 0.02
R1506:Vps52 UTSW 17 33957894 missense probably damaging 1.00
R3760:Vps52 UTSW 17 33960188 missense possibly damaging 0.64
R4714:Vps52 UTSW 17 33961179 missense probably benign 0.25
R5381:Vps52 UTSW 17 33958301 missense possibly damaging 0.77
R5590:Vps52 UTSW 17 33961221 missense probably benign 0.01
R5928:Vps52 UTSW 17 33961126 missense possibly damaging 0.85
R6003:Vps52 UTSW 17 33956094 start codon destroyed probably null 0.01
R6302:Vps52 UTSW 17 33963215 missense probably damaging 1.00
R6574:Vps52 UTSW 17 33962478 missense probably null 0.34
R6695:Vps52 UTSW 17 33963199 nonsense probably null
R6888:Vps52 UTSW 17 33963206 missense probably benign 0.06
R7022:Vps52 UTSW 17 33959319 missense probably benign 0.04
R7136:Vps52 UTSW 17 33965288 missense probably benign 0.00
Posted On2013-06-21