Incidental Mutation 'R0267:Vps33b'
ID 34998
Institutional Source Beutler Lab
Gene Symbol Vps33b
Ensembl Gene ENSMUSG00000030534
Gene Name vacuolar protein sorting 33B
Synonyms
MMRRC Submission 038493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0267 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79919369-79941327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79935802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 405 (I405T)
Ref Sequence ENSEMBL: ENSMUSP00000032749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032749] [ENSMUST00000135053] [ENSMUST00000150585]
AlphaFold P59016
Predicted Effect possibly damaging
Transcript: ENSMUST00000032749
AA Change: I405T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
AA Change: I405T

DomainStartEndE-ValueType
Pfam:Sec1 37 611 2.4e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128254
Predicted Effect probably benign
Transcript: ENSMUST00000135053
SMART Domains Protein: ENSMUSP00000138472
Gene: ENSMUSG00000030534

DomainStartEndE-ValueType
SCOP:d1epua_ 18 59 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145594
Predicted Effect probably benign
Transcript: ENSMUST00000150585
SMART Domains Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534

DomainStartEndE-ValueType
Pfam:Sec1 36 140 1.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205864
Meta Mutation Damage Score 0.1790 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.7%
  • 10x: 96.2%
  • 20x: 94.0%
Validation Efficiency 97% (64/66)
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 Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry scaly skin, hair loss, thrombocytosis, abnormal alpha-granule development, extramedullary hematopoiesis, abnormal platelets and megakaryocytes, and defects in tail tendon collagen I structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,105 (GRCm39) F1721S probably damaging Het
Adgrb1 G A 15: 74,401,238 (GRCm39) R78H probably damaging Het
Adgrd1 G A 5: 129,216,658 (GRCm39) A342T probably benign Het
Adrb1 A T 19: 56,711,923 (GRCm39) K374* probably null Het
Aldh18a1 C A 19: 40,562,233 (GRCm39) V264F probably benign Het
Aldh1l2 C T 10: 83,358,551 (GRCm39) probably benign Het
Alox15 T A 11: 70,236,979 (GRCm39) H393L probably damaging Het
Aox1 A G 1: 58,378,605 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,288 (GRCm39) Y297C probably damaging Het
Atxn2l T G 7: 126,092,379 (GRCm39) Q950P probably damaging Het
Bicd1 A T 6: 149,418,540 (GRCm39) D737V probably damaging Het
C9 T C 15: 6,496,939 (GRCm39) I212T probably benign Het
Ccdc63 A T 5: 122,255,107 (GRCm39) probably benign Het
Chst1 C A 2: 92,443,951 (GRCm39) P141Q probably damaging Het
Cped1 T A 6: 22,119,475 (GRCm39) F311L probably damaging Het
D6Wsu163e T A 6: 126,923,454 (GRCm39) H113Q probably benign Het
Dcn A T 10: 97,342,345 (GRCm39) probably benign Het
Dmbx1 C T 4: 115,775,309 (GRCm39) A324T probably benign Het
Dock10 G T 1: 80,490,171 (GRCm39) Q1618K probably damaging Het
Dpyd A G 3: 118,710,921 (GRCm39) E443G probably benign Het
Espl1 T C 15: 102,221,452 (GRCm39) V953A possibly damaging Het
Exosc10 T C 4: 148,647,213 (GRCm39) L174P probably damaging Het
Foxg1 A G 12: 49,432,365 (GRCm39) Y366C probably damaging Het
Fxyd3 T C 7: 30,770,159 (GRCm39) probably benign Het
Gbp2 T C 3: 142,335,867 (GRCm39) V189A probably benign Het
Gins4 T C 8: 23,719,426 (GRCm39) probably benign Het
Gm12789 A G 4: 101,845,319 (GRCm39) T3A probably benign Het
Gnb1l T C 16: 18,366,839 (GRCm39) probably benign Het
Gtpbp3 T C 8: 71,944,141 (GRCm39) L295S probably damaging Het
Hrh4 C A 18: 13,155,455 (GRCm39) Y331* probably null Het
Hsd11b1 A T 1: 192,923,705 (GRCm39) Y52N probably damaging Het
Jam3 A G 9: 27,017,701 (GRCm39) I29T probably benign Het
Kctd16 T A 18: 40,663,930 (GRCm39) I353N probably benign Het
Lama4 G T 10: 38,904,635 (GRCm39) G246C probably damaging Het
Lhx3 T A 2: 26,093,040 (GRCm39) M137L probably benign Het
Morc2a T C 11: 3,628,567 (GRCm39) I340T probably benign Het
Myo7a A C 7: 97,703,831 (GRCm39) I1969S probably benign Het
Or14a258 T C 7: 86,035,475 (GRCm39) E131G possibly damaging Het
Or5b116 T A 19: 13,422,792 (GRCm39) C139S probably damaging Het
Or6n1 A G 1: 173,916,732 (GRCm39) N42S probably damaging Het
Pclo T C 5: 14,731,194 (GRCm39) L3232P unknown Het
Polr1a T G 6: 71,951,123 (GRCm39) I1407M probably damaging Het
Ppip5k2 A G 1: 97,656,722 (GRCm39) V817A probably damaging Het
Rbfox3 T C 11: 118,386,066 (GRCm39) T280A probably benign Het
Rfx3 T C 19: 27,771,188 (GRCm39) D521G probably benign Het
Scn5a C T 9: 119,372,201 (GRCm39) V223I probably damaging Het
Sgsm3 T G 15: 80,890,803 (GRCm39) M119R probably damaging Het
Slc6a7 T A 18: 61,129,783 (GRCm39) M608L probably benign Het
Slit2 A G 5: 48,339,673 (GRCm39) probably benign Het
Steap2 T A 5: 5,723,561 (GRCm39) I440F probably benign Het
Syn2 T G 6: 115,231,111 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tfb2m G A 1: 179,361,203 (GRCm39) H262Y probably benign Het
Trmt1l A G 1: 151,333,426 (GRCm39) probably benign Het
Trpm6 C A 19: 18,800,742 (GRCm39) P819T probably benign Het
Ttn G A 2: 76,574,033 (GRCm39) A25620V probably damaging Het
Ubn2 T C 6: 38,459,553 (GRCm39) probably null Het
Vars1 T C 17: 35,230,572 (GRCm39) probably benign Het
Vip A T 10: 5,594,004 (GRCm39) D119V possibly damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zbtb21 T A 16: 97,753,300 (GRCm39) S356C probably damaging Het
Zdhhc6 A T 19: 55,297,362 (GRCm39) S237T probably benign Het
Zfp142 G A 1: 74,615,223 (GRCm39) A427V probably benign Het
Zfp692 T A 11: 58,205,140 (GRCm39) V463E possibly damaging Het
Zmynd8 A T 2: 165,670,322 (GRCm39) I384N probably damaging Het
Other mutations in Vps33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Vps33b APN 7 79,935,591 (GRCm39) missense probably damaging 1.00
IGL01352:Vps33b APN 7 79,934,807 (GRCm39) splice site probably null
IGL01863:Vps33b APN 7 79,924,059 (GRCm39) critical splice donor site probably null
IGL01918:Vps33b APN 7 79,937,560 (GRCm39) splice site probably null
IGL02152:Vps33b APN 7 79,934,817 (GRCm39) missense probably benign 0.29
IGL02364:Vps33b APN 7 79,937,587 (GRCm39) missense probably damaging 1.00
IGL02383:Vps33b APN 7 79,935,082 (GRCm39) splice site probably null
IGL02669:Vps33b APN 7 79,925,786 (GRCm39) splice site probably benign
IGL03104:Vps33b APN 7 79,925,831 (GRCm39) missense probably damaging 1.00
IGL03333:Vps33b APN 7 79,923,973 (GRCm39) splice site probably benign
PIT4651001:Vps33b UTSW 7 79,939,755 (GRCm39) missense probably damaging 0.99
R0379:Vps33b UTSW 7 79,933,162 (GRCm39) splice site probably null
R0971:Vps33b UTSW 7 79,937,647 (GRCm39) missense possibly damaging 0.75
R1184:Vps33b UTSW 7 79,932,234 (GRCm39) missense probably benign 0.02
R1639:Vps33b UTSW 7 79,934,101 (GRCm39) missense probably damaging 1.00
R1693:Vps33b UTSW 7 79,937,641 (GRCm39) missense probably damaging 1.00
R4502:Vps33b UTSW 7 79,937,655 (GRCm39) missense possibly damaging 0.94
R4609:Vps33b UTSW 7 79,940,866 (GRCm39) missense probably benign 0.00
R4748:Vps33b UTSW 7 79,939,796 (GRCm39) missense probably damaging 1.00
R5083:Vps33b UTSW 7 79,924,389 (GRCm39) missense probably damaging 0.99
R5304:Vps33b UTSW 7 79,924,001 (GRCm39) missense probably damaging 1.00
R5774:Vps33b UTSW 7 79,935,088 (GRCm39) missense probably benign 0.38
R5991:Vps33b UTSW 7 79,933,162 (GRCm39) splice site probably null
R7085:Vps33b UTSW 7 79,925,837 (GRCm39) missense probably benign 0.12
R7409:Vps33b UTSW 7 79,935,017 (GRCm39) missense probably damaging 0.97
R8025:Vps33b UTSW 7 79,940,094 (GRCm39) splice site probably benign
R8460:Vps33b UTSW 7 79,937,617 (GRCm39) missense probably benign 0.04
R8930:Vps33b UTSW 7 79,932,241 (GRCm39) missense possibly damaging 0.89
R8932:Vps33b UTSW 7 79,932,241 (GRCm39) missense possibly damaging 0.89
R9065:Vps33b UTSW 7 79,935,339 (GRCm39) missense probably damaging 0.99
R9110:Vps33b UTSW 7 79,939,743 (GRCm39) missense probably benign 0.04
R9165:Vps33b UTSW 7 79,924,434 (GRCm39) critical splice donor site probably null
X0018:Vps33b UTSW 7 79,940,313 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTTCAACATCCGAGAGAGCACTAGC -3'
(R):5'- TCTATCAGGAAGCCTCACTGAGCAC -3'

Sequencing Primer
(F):5'- CCGAGAGAGCACTAGCTACATTG -3'
(R):5'- CTGAAGATGGAACTGTTTACAGCC -3'
Posted On 2013-05-09