Incidental Mutation 'IGL00848:Vps45'
ID14813
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: 0.877) question?
Stock #IGL00848
Quality Score
Status
Chromosome3
Chromosomal Location95999832-96058466 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 96056973 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015891]
Predicted Effect probably benign
Transcript: ENSMUST00000015891
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140518
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Vps45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Vps45 APN 3 96000066 makesense probably null
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
IGL02598:Vps45 APN 3 96031042 missense probably benign 0.03
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
Posted On2012-12-06