Incidental Mutation 'R9057:Vps41'
ID 688767
Institutional Source Beutler Lab
Gene Symbol Vps41
Ensembl Gene ENSMUSG00000041236
Gene Name VPS41 HOPS complex subunit
Synonyms Vam2, mVam2
MMRRC Submission 068883-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9057 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 18901462-19050981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19027702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 537 (D537E)
Ref Sequence ENSEMBL: ENSMUSP00000072729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072961]
AlphaFold Q5KU39
Predicted Effect probably benign
Transcript: ENSMUST00000072961
AA Change: D537E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: D537E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,782 (GRCm39) probably benign Het
Abca2 G A 2: 25,331,584 (GRCm39) D1324N probably benign Het
Acat1 C T 9: 53,503,300 (GRCm39) G180R probably damaging Het
AI837181 A C 19: 5,476,730 (GRCm39) T298P probably damaging Het
Alms1 T A 6: 85,586,814 (GRCm39) D556E unknown Het
Ankle1 T A 8: 71,858,961 (GRCm39) W65R probably benign Het
Ano5 A G 7: 51,203,654 (GRCm39) N234S probably benign Het
Asb7 T A 7: 66,309,395 (GRCm39) probably benign Het
Atad2b T A 12: 5,068,102 (GRCm39) C1033* probably null Het
B4galnt1 A G 10: 127,006,999 (GRCm39) D452G probably damaging Het
B4gat1 G T 19: 5,089,056 (GRCm39) A18S possibly damaging Het
Bard1 A G 1: 71,069,807 (GRCm39) Y724H probably damaging Het
Bcl9 A T 3: 97,112,306 (GRCm39) M1383K possibly damaging Het
Cenpt C A 8: 106,576,405 (GRCm39) *43L probably null Het
Ces2f C A 8: 105,674,744 (GRCm39) H49N probably benign Het
Col17a1 A T 19: 47,637,522 (GRCm39) D1245E probably damaging Het
Col19a1 G T 1: 24,549,962 (GRCm39) H312N unknown Het
Cyb5d2 C T 11: 72,679,924 (GRCm39) E124K probably benign Het
Dnah5 C T 15: 28,391,014 (GRCm39) A3291V probably damaging Het
Exo5 A T 4: 120,779,186 (GRCm39) D226E probably damaging Het
Ggt6 C T 11: 72,328,067 (GRCm39) T189M probably damaging Het
Gm5592 C A 7: 40,938,887 (GRCm39) S723Y possibly damaging Het
Golga3 C T 5: 110,332,465 (GRCm39) T133M probably damaging Het
Heatr5a C T 12: 51,986,420 (GRCm39) E598K probably damaging Het
Hfe T A 13: 23,889,658 (GRCm39) I330F possibly damaging Het
Htt A G 5: 35,009,454 (GRCm39) I1478M possibly damaging Het
Igf1r T C 7: 67,833,186 (GRCm39) F449L probably damaging Het
Ints4 T C 7: 97,158,987 (GRCm39) V453A possibly damaging Het
Ints6 A G 14: 62,951,740 (GRCm39) probably null Het
Klrh1 T A 6: 129,752,803 (GRCm39) M1L probably benign Het
Kpna4 G A 3: 69,002,018 (GRCm39) T248M probably damaging Het
Lactb T C 9: 66,874,977 (GRCm39) I372V possibly damaging Het
Mib1 T A 18: 10,795,728 (GRCm39) D696E possibly damaging Het
Mpzl3 G A 9: 44,979,592 (GRCm39) R181Q probably damaging Het
Mup12 A T 4: 60,696,779 (GRCm39) I33N probably damaging Het
Myh10 A G 11: 68,656,011 (GRCm39) I502V possibly damaging Het
Nacad C A 11: 6,550,876 (GRCm39) V772F possibly damaging Het
Nbeal2 G T 9: 110,456,218 (GRCm39) T2417N probably benign Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Or2ag17 A T 7: 106,389,296 (GRCm39) V304D probably damaging Het
Or6e1 T C 14: 54,520,148 (GRCm39) E68G probably damaging Het
Pan2 A T 10: 128,156,141 (GRCm39) H1133L probably damaging Het
Pgk2 A G 17: 40,518,735 (GRCm39) V231A possibly damaging Het
Psmd12 G A 11: 107,377,328 (GRCm39) R129Q probably null Het
Rpl23a G A 11: 78,072,021 (GRCm39) R139C probably benign Het
Sars2 G T 7: 28,446,246 (GRCm39) Q158H Het
Scd3 C T 19: 44,224,340 (GRCm39) P191L probably damaging Het
Serac1 C A 17: 6,111,890 (GRCm39) S262I probably damaging Het
Sh3bp1 A G 15: 78,794,209 (GRCm39) T526A probably benign Het
Slc26a3 A T 12: 31,520,958 (GRCm39) T721S probably benign Het
Slc8a1 A C 17: 81,955,479 (GRCm39) S520A probably benign Het
Sp9 A T 2: 73,103,613 (GRCm39) S56C probably damaging Het
Spire2 T A 8: 124,095,547 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,167 (GRCm39) L255R probably damaging Het
Tcp11l1 A G 2: 104,528,026 (GRCm39) I156T probably damaging Het
Tnrc6b G A 15: 80,763,349 (GRCm39) A284T probably benign Het
Trappc14 A T 5: 138,260,949 (GRCm39) V232E probably damaging Het
Tsc1 T A 2: 28,575,874 (GRCm39) L919H probably damaging Het
Vps13c T A 9: 67,828,209 (GRCm39) H1454Q probably benign Het
Wnt16 T A 6: 22,288,823 (GRCm39) C47S probably damaging Het
Zfhx2 C T 14: 55,310,027 (GRCm39) E840K possibly damaging Het
Zfp61 A T 7: 23,990,702 (GRCm39) V483E probably benign Het
Zfp870 A T 17: 33,102,793 (GRCm39) S179T probably benign Het
Other mutations in Vps41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Vps41 APN 13 19,050,320 (GRCm39) missense probably benign 0.37
IGL01563:Vps41 APN 13 18,966,897 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTCAGTGAACACTTGCCGTAG -3'
(R):5'- ACTATGCAAAGAAAGGTGCGTC -3'

Sequencing Primer
(F):5'- GTGAACACTTGCCGTAGTAAACTC -3'
(R):5'- GTTTTAAGCATGGCCAGCATATG -3'
Posted On 2021-11-19