Incidental Mutation 'IGL02152:Vps33b'
ID 282059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps33b
Ensembl Gene ENSMUSG00000030534
Gene Name vacuolar protein sorting 33B
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02152
Quality Score
Status
Chromosome 7
Chromosomal Location 79919369-79941327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79934817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 302 (S302G)
Ref Sequence ENSEMBL: ENSMUSP00000032749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032749] [ENSMUST00000135053] [ENSMUST00000150585]
AlphaFold P59016
Predicted Effect probably benign
Transcript: ENSMUST00000032749
AA Change: S302G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
AA Change: S302G

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
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 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Chrm5 A G 2: 112,310,913 (GRCm39) Y68H probably damaging Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cpox A G 16: 58,494,787 (GRCm39) T275A possibly damaging Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Enpp3 T C 10: 24,649,900 (GRCm39) E842G probably damaging Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Mpp3 A T 11: 101,916,216 (GRCm39) Y45* probably null Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Txndc12 T A 4: 108,691,989 (GRCm39) C9* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (GRCm39) probably benign 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
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
R0267:Vps33b UTSW 7 79,935,802 (GRCm39) missense possibly damaging 0.87
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
Posted On 2015-04-16