Incidental Mutation 'IGL02024:Vps41'
ID184106
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 #IGL02024
Quality Score
Status
Chromosome13
Chromosomal Location18717286-18866811 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 18791657 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072961]
Predicted Effect probably benign
Transcript: ENSMUST00000072961
SMART Domains Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222813
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik G A X: 89,931,523 T356I probably benign Het
Aass G A 6: 23,113,706 H246Y probably damaging Het
Abat G A 16: 8,611,136 A322T probably damaging Het
Bcat1 A G 6: 145,032,838 V152A probably damaging Het
Btaf1 A G 19: 36,992,426 probably benign Het
Elavl2 T C 4: 91,253,539 T291A probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Fcgbp G A 7: 28,106,374 C2026Y probably damaging Het
Fcgrt T A 7: 45,095,258 H258L probably damaging Het
Galnt6 C T 15: 100,703,493 D302N probably benign Het
Gldc T A 19: 30,100,827 R923S probably damaging Het
Hspg2 G T 4: 137,540,073 A2033S probably damaging Het
Htr2c T A X: 147,075,925 M77K probably damaging Het
Ifi208 A G 1: 173,683,290 Y337C probably damaging Het
Ints11 G T 4: 155,888,515 W554L probably damaging Het
Itgbl1 T A 14: 123,857,492 C186S probably damaging Het
Lipf A G 19: 33,976,595 Y362C probably damaging Het
Map2k7 T A 8: 4,247,663 S421R possibly damaging Het
Mroh9 T G 1: 163,062,502 N222T possibly damaging Het
Msl3 C A X: 168,670,251 R89L probably benign Het
Nrip1 T A 16: 76,291,675 D998V probably benign Het
Nrk T A X: 138,995,929 I1265N probably damaging Het
Ntn5 A G 7: 45,691,406 probably benign Het
Olfr1153 A T 2: 87,896,899 R233S possibly damaging Het
Olfr743 A G 14: 50,533,850 N146S probably benign Het
Olfr750 T G 14: 51,071,309 E28A probably benign Het
Plch2 T C 4: 155,043,138 probably benign Het
Porcn C T X: 8,201,662 V233I probably benign Het
Ppp2r2a T C 14: 67,038,912 K48R probably benign Het
Rccd1 A T 7: 80,319,007 D268E probably benign Het
Sacs C A 14: 61,189,678 S178R probably damaging Het
Samd12 T A 15: 53,658,466 D116V probably damaging Het
Slc12a8 A G 16: 33,608,198 E46G probably damaging Het
Slc30a10 A T 1: 185,455,241 I60F possibly damaging Het
Slc6a8 C T X: 73,678,977 probably benign Het
Sos2 A G 12: 69,618,048 probably benign Het
Tbc1d31 T C 15: 57,919,942 V79A probably benign Het
Tmem184c A T 8: 77,604,814 V102E probably benign Het
Ttc19 G T 11: 62,313,113 R300I probably damaging Het
Unc5d T A 8: 28,652,827 I866F probably benign Het
Vmn1r7 A T 6: 57,024,889 C129S probably benign Het
Vwa8 C T 14: 79,094,284 A1275V possibly damaging Het
Other mutations in Vps41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Vps41 APN 13 18866150 missense probably benign 0.37
IGL01563:Vps41 APN 13 18782727 splice site probably benign
IGL01880:Vps41 APN 13 18810471 missense probably benign 0.01
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
R8029:Vps41 UTSW 13 18823785 nonsense probably null
R8033:Vps41 UTSW 13 18810465 missense possibly damaging 0.94
Z1177:Vps41 UTSW 13 18845935 missense probably benign 0.00
Z1177:Vps41 UTSW 13 18854595 missense probably damaging 0.97
Posted On2014-05-07