Incidental Mutation 'IGL01563:Vps41'
ID90908
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 #IGL01563
Quality Score
Status
Chromosome13
Chromosomal Location18717286-18866811 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 18782727 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,627,983 E2205G probably damaging Het
Arid2 G A 15: 96,372,397 V1464I probably damaging Het
Axin2 A G 11: 108,923,805 Q173R probably damaging Het
Best1 A G 19: 9,986,735 F454L probably benign Het
CK137956 T G 4: 127,970,635 K67T possibly damaging Het
Col14a1 G A 15: 55,487,941 G1555R unknown Het
Csad G A 15: 102,187,163 S153F probably damaging Het
Cyp4f40 A T 17: 32,673,956 D315V probably damaging Het
Galnt3 G A 2: 66,097,757 A265V probably damaging Het
Gm5901 C A 7: 105,377,515 Y163* probably null Het
Golga4 A G 9: 118,527,006 probably benign Het
Greb1l A G 18: 10,469,399 D138G probably damaging Het
Has1 A T 17: 17,843,662 probably benign Het
Ighv1-42 A G 12: 114,937,184 S94P probably damaging Het
Katnb1 T A 8: 95,098,159 L569Q probably damaging Het
Nedd1 C T 10: 92,698,169 probably null Het
Olfr1359 A G 13: 21,703,073 E24G probably benign Het
Olfr893 T A 9: 38,209,701 I214N probably damaging Het
Pdcd4 G A 19: 53,929,121 R463H probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps19bp1 A G 15: 80,261,331 M84T probably benign Het
Sass6 A T 3: 116,605,198 D43V probably damaging Het
Senp6 G A 9: 80,122,008 S551N probably benign Het
Sh2d2a A G 3: 87,852,125 E273G probably damaging Het
Slc16a14 T C 1: 84,912,187 probably benign Het
Smcr8 C T 11: 60,783,845 R816C possibly damaging Het
Trappc8 A T 18: 20,837,046 N962K probably benign Het
Trove2 A G 1: 143,761,382 V364A probably benign Het
Trpc6 A G 9: 8,656,603 E677G probably damaging Het
Ubap2 G T 4: 41,195,998 P961T probably damaging Het
Vmn1r23 A G 6: 57,926,076 V239A possibly damaging Het
Vwf A T 6: 125,591,165 D341V probably damaging Het
Zfp618 C T 4: 63,079,896 P45L probably benign Het
Other mutations in Vps41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Vps41 APN 13 18866150 missense probably benign 0.37
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 On2013-12-09