Incidental Mutation 'IGL02598:Vps45'
ID299959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps45
Ensembl Gene ENSMUSG00000015747
Gene Namevacuolar protein sorting 45
SynonymsmVps45
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.855) question?
Stock #IGL02598
Quality Score
Status
Chromosome3
Chromosomal Location95999832-96058466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96031042 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 486 (L486P)
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015891]
Predicted Effect probably benign
Transcript: ENSMUST00000015891
AA Change: L486P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: L486P

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Abcc4 A T 14: 118,668,369 L95* probably null Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Eps8l2 T G 7: 141,354,936 probably benign Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Masp1 T A 16: 23,459,631 M523L probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr1176 A T 2: 88,340,251 I229F possibly damaging Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Podxl T C 6: 31,524,420 E400G probably damaging Het
Prss54 C A 8: 95,565,709 V81F probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly damaging Het
Other mutations in Vps45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Vps45 APN 3 96000066 makesense probably null
IGL00848:Vps45 APN 3 96056973 splice site probably benign
IGL00915:Vps45 APN 3 96046350 critical splice donor site probably null
IGL02143:Vps45 APN 3 96033821 missense probably benign
IGL02143:Vps45 APN 3 96019646 missense probably benign 0.00
IGL02247:Vps45 APN 3 96042924 missense probably damaging 1.00
IGL03409:Vps45 APN 3 96053089 missense probably benign 0.00
R0943:Vps45 UTSW 3 96057024 missense probably benign 0.02
R1102:Vps45 UTSW 3 96042941 splice site probably benign
R1540:Vps45 UTSW 3 96048346 missense probably damaging 1.00
R1829:Vps45 UTSW 3 96047245 critical splice donor site probably null
R1919:Vps45 UTSW 3 96046440 missense probably benign 0.00
R2113:Vps45 UTSW 3 96047053 missense probably benign 0.05
R2251:Vps45 UTSW 3 96057040 missense probably benign 0.00
R2511:Vps45 UTSW 3 96041445 missense probably benign 0.01
R4752:Vps45 UTSW 3 96048387 missense possibly damaging 0.88
R4806:Vps45 UTSW 3 96046413 missense probably benign 0.01
R4914:Vps45 UTSW 3 96019631 missense probably damaging 0.98
R4915:Vps45 UTSW 3 96019631 missense probably damaging 0.98
R4917:Vps45 UTSW 3 96019631 missense probably damaging 0.98
R5180:Vps45 UTSW 3 96046371 missense possibly damaging 0.94
R5288:Vps45 UTSW 3 96057774 start codon destroyed probably null 1.00
R5454:Vps45 UTSW 3 96019657 missense probably benign 0.21
R6397:Vps45 UTSW 3 96042852 missense probably benign 0.13
R7247:Vps45 UTSW 3 96041405 missense probably benign 0.02
R7449:Vps45 UTSW 3 96047136 critical splice acceptor site probably null
R7460:Vps45 UTSW 3 96048387 missense probably benign 0.00
R7795:Vps45 UTSW 3 96019624 missense probably benign 0.13
Posted On2015-04-16