Incidental Mutation 'R0602:Vps54'
ID 55500
Institutional Source Beutler Lab
Gene Symbol Vps54
Ensembl Gene ENSMUSG00000020128
Gene Name VPS54 GARP complex subunit
Synonyms 5330404P15Rik, Vps54l, mSLP8, wr
MMRRC Submission 038791-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R0602 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 21189281-21271136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21256434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 634 (I634M)
Ref Sequence ENSEMBL: ENSMUSP00000105206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006221] [ENSMUST00000109578] [ENSMUST00000132017]
AlphaFold Q5SPW0
Predicted Effect possibly damaging
Transcript: ENSMUST00000006221
AA Change: I646M

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006221
Gene: ENSMUSG00000020128
AA Change: I646M

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:DUF2450 198 364 2.1e-12 PFAM
Pfam:Vps54 736 868 3.3e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109578
AA Change: I634M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105206
Gene: ENSMUSG00000020128
AA Change: I634M

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:DUF2450 186 352 2.3e-12 PFAM
Pfam:Vps54 723 857 1.6e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132017
AA Change: I484M

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116739
Gene: ENSMUSG00000020128
AA Change: I484M

DomainStartEndE-ValueType
Pfam:DUF2450 72 238 1.4e-12 PFAM
Pfam:Vps54 573 707 7.8e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143932
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.7%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,978,090 (GRCm39) probably benign Het
Arih1 A G 9: 59,302,154 (GRCm39) probably benign Het
Bcl9 T C 3: 97,113,102 (GRCm39) I1118V probably benign Het
Cap1 T C 4: 122,766,202 (GRCm39) E12G probably damaging Het
Ccdc168 T A 1: 44,099,127 (GRCm39) K657I possibly damaging Het
Ccr2 A G 9: 123,906,658 (GRCm39) I313V probably benign Het
Cd1d2 T C 3: 86,895,110 (GRCm39) S161P probably benign Het
Cd226 C T 18: 89,287,135 (GRCm39) T311I probably benign Het
Col25a1 A G 3: 130,369,063 (GRCm39) probably null Het
Cspg4 T C 9: 56,795,301 (GRCm39) F1012S probably damaging Het
Dnah7b A G 1: 46,364,002 (GRCm39) M3541V probably damaging Het
Erbb2 G A 11: 98,325,097 (GRCm39) V852M probably damaging Het
Fer1l6 A C 15: 58,449,794 (GRCm39) T667P probably damaging Het
Gal3st2c A G 1: 93,936,901 (GRCm39) Y282C probably damaging Het
Glp1r T C 17: 31,128,201 (GRCm39) L60P probably benign Het
Gtf2h2 A G 13: 100,605,533 (GRCm39) V358A probably benign Het
H2ac18 T C 3: 96,152,866 (GRCm39) probably benign Het
Hephl1 T A 9: 15,000,347 (GRCm39) I302F probably damaging Het
Lgi2 T C 5: 52,711,765 (GRCm39) D185G probably damaging Het
Lrtm1 T C 14: 28,744,179 (GRCm39) probably benign Het
Megf10 T G 18: 57,395,172 (GRCm39) D511E probably damaging Het
Myo5c A G 9: 75,173,478 (GRCm39) probably null Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Ola1 A G 2: 72,924,056 (GRCm39) Y368H probably damaging Het
Or52s1 A C 7: 102,861,787 (GRCm39) H229P possibly damaging Het
Or9i1b A G 19: 13,897,145 (GRCm39) T254A probably benign Het
Or9q2 T C 19: 13,772,026 (GRCm39) probably null Het
Panx1 A G 9: 14,921,500 (GRCm39) L125P probably damaging Het
Pappa2 A G 1: 158,590,625 (GRCm39) probably benign Het
Parp6 A G 9: 59,556,648 (GRCm39) probably benign Het
Pomgnt2 A G 9: 121,811,339 (GRCm39) Y481H probably benign Het
Ppp4c A G 7: 126,388,254 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,533 (GRCm39) probably benign Het
Prpf40b C A 15: 99,202,352 (GRCm39) A70E unknown Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Ptprc C T 1: 138,017,223 (GRCm39) probably benign Het
Rgs22 T C 15: 36,140,018 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,371,313 (GRCm39) E344G possibly damaging Het
Sgca A T 11: 94,854,061 (GRCm39) I383N possibly damaging Het
Sgms2 T A 3: 131,118,756 (GRCm39) probably null Het
Slc9b1 C A 3: 135,103,516 (GRCm39) Q549K probably benign Het
Smc4 G C 3: 68,916,871 (GRCm39) A187P probably damaging Het
Smco1 A G 16: 32,092,062 (GRCm39) S47G probably damaging Het
Sobp T A 10: 42,898,385 (GRCm39) E400V probably damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Stil T A 4: 114,881,620 (GRCm39) probably benign Het
Sult3a2 A T 10: 33,658,044 (GRCm39) M23K probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcof1 C A 18: 60,966,605 (GRCm39) G329W probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Vmn1r171 G T 7: 23,332,602 (GRCm39) V276L probably benign Het
Vps13b T C 15: 35,422,514 (GRCm39) L158P probably damaging Het
Vwa8 T G 14: 79,258,060 (GRCm39) S736R probably benign Het
Other mutations in Vps54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Vps54 APN 11 21,227,909 (GRCm39) missense possibly damaging 0.74
IGL01070:Vps54 APN 11 21,262,268 (GRCm39) missense probably damaging 1.00
IGL01398:Vps54 APN 11 21,245,403 (GRCm39) splice site probably benign
IGL01450:Vps54 APN 11 21,241,135 (GRCm39) missense probably benign 0.00
IGL01611:Vps54 APN 11 21,261,082 (GRCm39) missense probably damaging 1.00
IGL01801:Vps54 APN 11 21,225,131 (GRCm39) critical splice donor site probably null
IGL01872:Vps54 APN 11 21,256,940 (GRCm39) missense probably damaging 0.99
IGL02071:Vps54 APN 11 21,225,071 (GRCm39) missense probably null 0.00
IGL02186:Vps54 APN 11 21,256,947 (GRCm39) missense probably damaging 1.00
IGL03358:Vps54 APN 11 21,218,799 (GRCm39) missense probably damaging 1.00
muddle UTSW 11 21,227,670 (GRCm39) splice site probably null
R0031:Vps54 UTSW 11 21,262,899 (GRCm39) missense probably damaging 1.00
R0147:Vps54 UTSW 11 21,250,259 (GRCm39) missense probably benign 0.02
R0158:Vps54 UTSW 11 21,256,962 (GRCm39) missense probably damaging 1.00
R0385:Vps54 UTSW 11 21,256,381 (GRCm39) missense possibly damaging 0.94
R0420:Vps54 UTSW 11 21,261,071 (GRCm39) splice site probably benign
R0582:Vps54 UTSW 11 21,250,137 (GRCm39) missense probably damaging 1.00
R1051:Vps54 UTSW 11 21,228,001 (GRCm39) frame shift probably null
R1280:Vps54 UTSW 11 21,227,868 (GRCm39) missense possibly damaging 0.88
R1720:Vps54 UTSW 11 21,256,519 (GRCm39) missense probably damaging 1.00
R1875:Vps54 UTSW 11 21,250,251 (GRCm39) missense probably benign 0.00
R1883:Vps54 UTSW 11 21,262,967 (GRCm39) missense possibly damaging 0.91
R1971:Vps54 UTSW 11 21,242,051 (GRCm39) missense probably damaging 1.00
R2063:Vps54 UTSW 11 21,227,955 (GRCm39) missense probably damaging 1.00
R2171:Vps54 UTSW 11 21,248,810 (GRCm39) missense probably benign 0.16
R2518:Vps54 UTSW 11 21,256,394 (GRCm39) missense probably benign 0.01
R3801:Vps54 UTSW 11 21,218,832 (GRCm39) missense probably benign 0.00
R4049:Vps54 UTSW 11 21,250,183 (GRCm39) missense probably benign 0.00
R4108:Vps54 UTSW 11 21,262,877 (GRCm39) missense probably benign 0.02
R4560:Vps54 UTSW 11 21,262,260 (GRCm39) missense possibly damaging 0.91
R4668:Vps54 UTSW 11 21,249,989 (GRCm39) missense probably benign 0.04
R4772:Vps54 UTSW 11 21,262,952 (GRCm39) missense probably damaging 1.00
R5061:Vps54 UTSW 11 21,269,881 (GRCm39) utr 3 prime probably benign
R5611:Vps54 UTSW 11 21,261,130 (GRCm39) missense possibly damaging 0.65
R5638:Vps54 UTSW 11 21,258,799 (GRCm39) missense probably damaging 1.00
R5670:Vps54 UTSW 11 21,214,864 (GRCm39) missense probably damaging 1.00
R7095:Vps54 UTSW 11 21,221,720 (GRCm39) missense probably benign 0.12
R7175:Vps54 UTSW 11 21,265,028 (GRCm39) critical splice donor site probably null
R7179:Vps54 UTSW 11 21,248,791 (GRCm39) missense probably damaging 1.00
R7269:Vps54 UTSW 11 21,227,670 (GRCm39) splice site probably null
R7286:Vps54 UTSW 11 21,225,005 (GRCm39) missense probably benign 0.30
R7344:Vps54 UTSW 11 21,224,999 (GRCm39) missense probably damaging 1.00
R7552:Vps54 UTSW 11 21,248,831 (GRCm39) missense probably benign 0.08
R7897:Vps54 UTSW 11 21,213,307 (GRCm39) missense probably benign 0.02
R8011:Vps54 UTSW 11 21,225,095 (GRCm39) missense probably damaging 0.99
R8193:Vps54 UTSW 11 21,242,045 (GRCm39) missense probably benign 0.00
R8282:Vps54 UTSW 11 21,250,464 (GRCm39) intron probably benign
R8534:Vps54 UTSW 11 21,227,706 (GRCm39) missense probably benign 0.05
R8559:Vps54 UTSW 11 21,214,815 (GRCm39) missense probably damaging 1.00
R9034:Vps54 UTSW 11 21,213,273 (GRCm39) missense probably benign 0.29
R9096:Vps54 UTSW 11 21,227,913 (GRCm39) missense possibly damaging 0.90
R9253:Vps54 UTSW 11 21,258,771 (GRCm39) missense probably benign
R9359:Vps54 UTSW 11 21,242,108 (GRCm39) missense probably benign
R9367:Vps54 UTSW 11 21,250,234 (GRCm39) missense probably benign 0.00
Z1177:Vps54 UTSW 11 21,213,206 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GACCGGCTTTAGACATCTTCAGCTC -3'
(R):5'- TGGCCTGTGATCAACTACGTTTACC -3'

Sequencing Primer
(F):5'- GCTTTAGACATCTTCAGCTCTGTATG -3'
(R):5'- GTGATCAACTACGTTTACCCTTTAAC -3'
Posted On 2013-07-11