Incidental Mutation 'IGL01134:Vps41'
ID52601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps41
Ensembl Gene ENSMUSG00000041236
Gene NameVPS41 HOPS complex subunit
SynonymsVam2, mVam2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01134
Quality Score
Status
Chromosome13
Chromosomal Location18717286-18866811 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18866150 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 838 (S838G)
Ref Sequence ENSEMBL: ENSMUSP00000072729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072961]
Predicted Effect probably benign
Transcript: ENSMUST00000072961
AA Change: S838G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: S838G

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Blast:WD40 34 70 2e-7 BLAST
SCOP:d1flga_ 44 253 6e-9 SMART
Blast:WD40 159 195 3e-11 BLAST
CLH 570 711 1.92e-42 SMART
RING 790 837 8.98e-2 SMART
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 encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cxxc4 A G 3: 134,240,659 I334V probably null Het
Cyp2b13 T A 7: 26,081,700 I179N probably damaging Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gda A G 19: 21,417,065 S143P probably damaging Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsf2bp A G 17: 31,987,404 L251S probably damaging Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Nqo1 T C 8: 107,388,955 D230G probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Smr2 T C 5: 88,108,519 S19P probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Vps41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Vps41 APN 13 18782727 splice site probably benign
IGL01880:Vps41 APN 13 18810471 missense probably benign 0.01
IGL02024:Vps41 APN 13 18791657 splice site probably benign
IGL02458:Vps41 APN 13 18853479 missense possibly damaging 0.67
IGL02740:Vps41 APN 13 18838680 missense probably damaging 1.00
IGL03218:Vps41 APN 13 18829270 missense possibly damaging 0.74
R0197:Vps41 UTSW 13 18854663 critical splice donor site probably null
R0284:Vps41 UTSW 13 18853440 missense probably damaging 1.00
R0321:Vps41 UTSW 13 18842295 splice site probably benign
R0372:Vps41 UTSW 13 18842247 missense probably benign 0.00
R0382:Vps41 UTSW 13 18827727 missense probably benign 0.30
R1691:Vps41 UTSW 13 18841243 missense probably damaging 1.00
R2055:Vps41 UTSW 13 18854616 missense possibly damaging 0.95
R2082:Vps41 UTSW 13 18852351 missense probably benign 0.27
R2147:Vps41 UTSW 13 18839734 splice site probably null
R2897:Vps41 UTSW 13 18810428 splice site probably benign
R4322:Vps41 UTSW 13 18823790 missense probably damaging 1.00
R4600:Vps41 UTSW 13 18745283 missense probably damaging 0.97
R4751:Vps41 UTSW 13 18811622 missense probably damaging 0.98
R4856:Vps41 UTSW 13 18829255 missense probably damaging 0.98
R5389:Vps41 UTSW 13 18862538 missense probably damaging 0.99
R7022:Vps41 UTSW 13 18842268 missense possibly damaging 0.76
R7456:Vps41 UTSW 13 18864034 missense probably benign 0.02
R7747:Vps41 UTSW 13 18841252 critical splice donor site probably null
R7790:Vps41 UTSW 13 18842268 missense possibly damaging 0.76
Posted On2013-06-21