Incidental Mutation 'IGL00585:Vps45'
ID 14812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps45
Ensembl Gene ENSMUSG00000015747
Gene Name vacuolar protein sorting 45
Synonyms mVps45
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # IGL00585
Quality Score
Chromosome 3
Chromosomal Location 95999832-96058466 bp(-) (GRCm38)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 96000066 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 571 (*571R)
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000015891] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]
AlphaFold P97390
Predicted Effect probably benign
Transcript: ENSMUST00000015889
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745

PH 21 133 2.68e-14 SMART
PDB:3AA1|C 147 169 2e-8 PDB
low complexity region 337 349 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000015891
AA Change: *571R
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: *571R

Pfam:Sec1 23 546 3e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123006
SMART Domains Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745

PH 12 124 2.68e-14 SMART
low complexity region 294 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130043
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745

low complexity region 7 15 N/A INTRINSIC
PH 30 142 2.68e-14 SMART
PDB:3AA1|C 156 178 2e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000143485
SMART Domains Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745

PH 13 124 1.08e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157043
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 (GRCm38) I664F probably damaging Het
Abcg4 A T 9: 44,281,623 (GRCm38) M142K probably benign Het
Afdn A G 17: 13,884,628 (GRCm38) T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 (GRCm38) S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 (GRCm38) E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 (GRCm38) F324S probably damaging Het
Cacng7 A G 7: 3,366,031 (GRCm38) Y170C probably damaging Het
Ceacam18 G A 7: 43,637,011 (GRCm38) V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 (GRCm38) P144S probably damaging Het
Chuk T C 19: 44,078,312 (GRCm38) H652R probably damaging Het
Ckap5 C T 2: 91,619,825 (GRCm38) L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 (GRCm38) H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 (GRCm38) G594S possibly damaging Het
Ctsq A T 13: 61,037,127 (GRCm38) D248E probably benign Het
Ep400 A T 5: 110,755,905 (GRCm38) I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 (GRCm38) probably null Het
Gldn T A 9: 54,338,464 (GRCm38) I433N probably damaging Het
Gm136 T A 4: 34,752,322 (GRCm38) E69V probably damaging Het
Gm28177 T C 1: 52,082,579 (GRCm38) probably null Het
Gtf2h2 A G 13: 100,480,998 (GRCm38) probably benign Het
Ints12 T C 3: 133,100,809 (GRCm38) probably null Het
Ltbp4 T C 7: 27,326,733 (GRCm38) D615G probably damaging Het
Mgme1 C T 2: 144,271,989 (GRCm38) P4S probably benign Het
Nae1 A G 8: 104,526,278 (GRCm38) probably null Het
Nup133 G A 8: 123,909,994 (GRCm38) A956V probably damaging Het
Oacyl T A 18: 65,749,640 (GRCm38) M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 (GRCm38) E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 (GRCm38) V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 (GRCm38) probably benign Het
Polh C T 17: 46,172,243 (GRCm38) probably benign Het
Ppp6r3 A G 19: 3,490,826 (GRCm38) C431R probably damaging Het
Pprc1 T C 19: 46,062,648 (GRCm38) S206P possibly damaging Het
Rab20 A G 8: 11,454,212 (GRCm38) Y163H probably benign Het
Sde2 T A 1: 180,855,818 (GRCm38) C46S possibly damaging Het
Serpinb1c T C 13: 32,883,975 (GRCm38) K213E probably damaging Het
Spata20 T G 11: 94,479,117 (GRCm38) L784F probably damaging Het
Tnnt1 A C 7: 4,507,550 (GRCm38) M224R possibly damaging Het
Trank1 T C 9: 111,349,290 (GRCm38) F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 (GRCm38) probably benign Het
Usp54 T A 14: 20,573,837 (GRCm38) S651C probably damaging Het
Yod1 G A 1: 130,719,133 (GRCm38) G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 (GRCm38) Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 (GRCm38) probably benign Het
Zfp648 T A 1: 154,204,189 (GRCm38) D31E possibly damaging Het
Other mutations in Vps45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Vps45 APN 3 96,056,973 (GRCm38) splice site probably benign
IGL00915:Vps45 APN 3 96,046,350 (GRCm38) critical splice donor site probably null
IGL02143:Vps45 APN 3 96,019,646 (GRCm38) missense probably benign 0.00
IGL02143:Vps45 APN 3 96,033,821 (GRCm38) missense probably benign
IGL02247:Vps45 APN 3 96,042,924 (GRCm38) missense probably damaging 1.00
IGL02598:Vps45 APN 3 96,031,042 (GRCm38) missense probably benign 0.03
IGL03409:Vps45 APN 3 96,053,089 (GRCm38) missense probably benign 0.00
R0943:Vps45 UTSW 3 96,057,024 (GRCm38) missense probably benign 0.02
R1102:Vps45 UTSW 3 96,042,941 (GRCm38) splice site probably benign
R1540:Vps45 UTSW 3 96,048,346 (GRCm38) missense probably damaging 1.00
R1829:Vps45 UTSW 3 96,047,245 (GRCm38) critical splice donor site probably null
R1919:Vps45 UTSW 3 96,046,440 (GRCm38) missense probably benign 0.00
R2113:Vps45 UTSW 3 96,047,053 (GRCm38) missense probably benign 0.05
R2251:Vps45 UTSW 3 96,057,040 (GRCm38) missense probably benign 0.00
R2511:Vps45 UTSW 3 96,041,445 (GRCm38) missense probably benign 0.01
R4752:Vps45 UTSW 3 96,048,387 (GRCm38) missense possibly damaging 0.88
R4806:Vps45 UTSW 3 96,046,413 (GRCm38) missense probably benign 0.01
R4914:Vps45 UTSW 3 96,019,631 (GRCm38) missense probably damaging 0.98
R4915:Vps45 UTSW 3 96,019,631 (GRCm38) missense probably damaging 0.98
R4917:Vps45 UTSW 3 96,019,631 (GRCm38) missense probably damaging 0.98
R5180:Vps45 UTSW 3 96,046,371 (GRCm38) missense possibly damaging 0.94
R5288:Vps45 UTSW 3 96,057,774 (GRCm38) start codon destroyed probably null 1.00
R5454:Vps45 UTSW 3 96,019,657 (GRCm38) missense probably benign 0.21
R6397:Vps45 UTSW 3 96,042,852 (GRCm38) missense probably benign 0.13
R7247:Vps45 UTSW 3 96,041,405 (GRCm38) missense probably benign 0.02
R7449:Vps45 UTSW 3 96,047,136 (GRCm38) critical splice acceptor site probably null
R7460:Vps45 UTSW 3 96,048,387 (GRCm38) missense probably benign 0.00
R7795:Vps45 UTSW 3 96,019,624 (GRCm38) missense probably benign 0.13
R8462:Vps45 UTSW 3 96,033,779 (GRCm38) missense possibly damaging 0.62
R8490:Vps45 UTSW 3 96,041,349 (GRCm38) missense probably benign
R9076:Vps45 UTSW 3 96,053,033 (GRCm38) splice site probably benign
R9081:Vps45 UTSW 3 96,032,813 (GRCm38) missense probably benign 0.24
R9358:Vps45 UTSW 3 96,033,664 (GRCm38) critical splice donor site probably null
R9475:Vps45 UTSW 3 96,042,925 (GRCm38) missense probably damaging 1.00
R9608:Vps45 UTSW 3 96,033,670 (GRCm38) missense probably damaging 0.98
Posted On 2012-12-06