Incidental Mutation 'IGL01563:Vps41'
ID 90908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps41
Ensembl Gene ENSMUSG00000041236
Gene Name VPS41 HOPS complex subunit
Synonyms Vam2, mVam2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01563
Quality Score
Status
Chromosome 13
Chromosomal Location 18901462-19050981 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 18966897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072961]
AlphaFold Q5KU39
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: 85,604,965 (GRCm39) E2205G probably damaging Het
Arid2 G A 15: 96,270,278 (GRCm39) V1464I probably damaging Het
Axin2 A G 11: 108,814,631 (GRCm39) Q173R probably damaging Het
Best1 A G 19: 9,964,099 (GRCm39) F454L probably benign Het
CK137956 T G 4: 127,864,428 (GRCm39) K67T possibly damaging Het
Col14a1 G A 15: 55,351,337 (GRCm39) G1555R unknown Het
Csad G A 15: 102,095,598 (GRCm39) S153F probably damaging Het
Cyp4f40 A T 17: 32,892,930 (GRCm39) D315V probably damaging Het
Galnt3 G A 2: 65,928,101 (GRCm39) A265V probably damaging Het
Gm5901 C A 7: 105,026,722 (GRCm39) Y163* probably null Het
Golga4 A G 9: 118,356,074 (GRCm39) probably benign Het
Greb1l A G 18: 10,469,399 (GRCm39) D138G probably damaging Het
Has1 A T 17: 18,063,924 (GRCm39) probably benign Het
Ighv1-42 A G 12: 114,900,804 (GRCm39) S94P probably damaging Het
Katnb1 T A 8: 95,824,787 (GRCm39) L569Q probably damaging Het
Nedd1 C T 10: 92,534,031 (GRCm39) probably null Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or8c15 T A 9: 38,120,997 (GRCm39) I214N probably damaging Het
Pdcd4 G A 19: 53,917,552 (GRCm39) R463H probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ro60 A G 1: 143,637,120 (GRCm39) V364A probably benign Het
Rps19bp1 A G 15: 80,145,532 (GRCm39) M84T probably benign Het
Sass6 A T 3: 116,398,847 (GRCm39) D43V probably damaging Het
Senp6 G A 9: 80,029,290 (GRCm39) S551N probably benign Het
Sh2d2a A G 3: 87,759,432 (GRCm39) E273G probably damaging Het
Slc16a14 T C 1: 84,889,908 (GRCm39) probably benign Het
Smcr8 C T 11: 60,674,671 (GRCm39) R816C possibly damaging Het
Trappc8 A T 18: 20,970,103 (GRCm39) N962K probably benign Het
Trpc6 A G 9: 8,656,604 (GRCm39) E677G probably damaging Het
Ubap2 G T 4: 41,195,998 (GRCm39) P961T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vwf A T 6: 125,568,128 (GRCm39) D341V probably damaging Het
Zfp618 C T 4: 62,998,133 (GRCm39) P45L probably benign Het
Other mutations in Vps41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Vps41 APN 13 19,050,320 (GRCm39) missense probably benign 0.37
IGL01880:Vps41 APN 13 18,994,641 (GRCm39) missense probably benign 0.01
IGL02024:Vps41 APN 13 18,975,827 (GRCm39) splice site probably benign
IGL02458:Vps41 APN 13 19,037,649 (GRCm39) missense possibly damaging 0.67
IGL02740:Vps41 APN 13 19,022,850 (GRCm39) missense probably damaging 1.00
IGL03218:Vps41 APN 13 19,013,440 (GRCm39) missense possibly damaging 0.74
R0197:Vps41 UTSW 13 19,038,833 (GRCm39) critical splice donor site probably null
R0284:Vps41 UTSW 13 19,037,610 (GRCm39) missense probably damaging 1.00
R0321:Vps41 UTSW 13 19,026,465 (GRCm39) splice site probably benign
R0372:Vps41 UTSW 13 19,026,417 (GRCm39) missense probably benign 0.00
R0382:Vps41 UTSW 13 19,011,897 (GRCm39) missense probably benign 0.30
R1691:Vps41 UTSW 13 19,025,413 (GRCm39) missense probably damaging 1.00
R2055:Vps41 UTSW 13 19,038,786 (GRCm39) missense possibly damaging 0.95
R2082:Vps41 UTSW 13 19,036,521 (GRCm39) missense probably benign 0.27
R2147:Vps41 UTSW 13 19,023,904 (GRCm39) splice site probably null
R2897:Vps41 UTSW 13 18,994,598 (GRCm39) splice site probably benign
R4322:Vps41 UTSW 13 19,007,960 (GRCm39) missense probably damaging 1.00
R4600:Vps41 UTSW 13 18,929,453 (GRCm39) missense probably damaging 0.97
R4751:Vps41 UTSW 13 18,995,792 (GRCm39) missense probably damaging 0.98
R4856:Vps41 UTSW 13 19,013,425 (GRCm39) missense probably damaging 0.98
R5389:Vps41 UTSW 13 19,046,708 (GRCm39) missense probably damaging 0.99
R7022:Vps41 UTSW 13 19,026,438 (GRCm39) missense possibly damaging 0.76
R7456:Vps41 UTSW 13 19,048,204 (GRCm39) missense probably benign 0.02
R7747:Vps41 UTSW 13 19,025,422 (GRCm39) critical splice donor site probably null
R7790:Vps41 UTSW 13 19,026,438 (GRCm39) missense possibly damaging 0.76
R8029:Vps41 UTSW 13 19,007,955 (GRCm39) nonsense probably null
R8033:Vps41 UTSW 13 18,994,635 (GRCm39) missense possibly damaging 0.94
R8241:Vps41 UTSW 13 19,033,168 (GRCm39) missense possibly damaging 0.73
R8267:Vps41 UTSW 13 18,994,641 (GRCm39) missense probably benign 0.00
R8801:Vps41 UTSW 13 18,998,403 (GRCm39) missense possibly damaging 0.78
R8927:Vps41 UTSW 13 18,929,501 (GRCm39) missense probably benign 0.01
R8928:Vps41 UTSW 13 18,929,501 (GRCm39) missense probably benign 0.01
R9029:Vps41 UTSW 13 18,994,723 (GRCm39) critical splice donor site probably null
R9057:Vps41 UTSW 13 19,027,702 (GRCm39) missense probably benign 0.19
R9066:Vps41 UTSW 13 19,008,018 (GRCm39) missense probably damaging 0.99
R9113:Vps41 UTSW 13 19,023,883 (GRCm39) missense probably benign 0.25
R9129:Vps41 UTSW 13 19,011,775 (GRCm39) missense probably benign 0.00
R9282:Vps41 UTSW 13 19,013,401 (GRCm39) nonsense probably null
R9391:Vps41 UTSW 13 18,994,616 (GRCm39) missense probably benign 0.19
R9478:Vps41 UTSW 13 19,046,913 (GRCm39) missense
R9569:Vps41 UTSW 13 19,013,396 (GRCm39) missense possibly damaging 0.93
Z1177:Vps41 UTSW 13 19,038,765 (GRCm39) missense probably damaging 0.97
Z1177:Vps41 UTSW 13 19,030,105 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09