Incidental Mutation 'IGL01389:Vps25'
ID 79151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps25
Ensembl Gene ENSMUSG00000078656
Gene Name vacuolar protein sorting 25
Synonyms D11Wsu68e, 1110020N13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01389
Quality Score
Status
Chromosome 11
Chromosomal Location 101144533-101150375 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 101144861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 20 (Q20*)
Ref Sequence ENSEMBL: ENSMUSP00000131026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007533] [ENSMUST00000042477] [ENSMUST00000100414] [ENSMUST00000107280] [ENSMUST00000121331] [ENSMUST00000128260] [ENSMUST00000144306]
AlphaFold Q9CQ80
Predicted Effect probably null
Transcript: ENSMUST00000007533
AA Change: Q20*
SMART Domains Protein: ENSMUSP00000007533
Gene: ENSMUSG00000078656
AA Change: Q20*

DomainStartEndE-ValueType
Pfam:ESCRT-II 10 147 1e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000042477
AA Change: Q20*
SMART Domains Protein: ENSMUSP00000042088
Gene: ENSMUSG00000078656
AA Change: Q20*

DomainStartEndE-ValueType
Pfam:ESCRT-II 9 147 1.3e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100414
AA Change: Q20*
SMART Domains Protein: ENSMUSP00000097981
Gene: ENSMUSG00000078656
AA Change: Q20*

DomainStartEndE-ValueType
Pfam:ESCRT-II 9 144 5e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107280
AA Change: Q20*
SMART Domains Protein: ENSMUSP00000102901
Gene: ENSMUSG00000078656
AA Change: Q20*

DomainStartEndE-ValueType
Pfam:ESCRT-II 10 153 7.2e-56 PFAM
low complexity region 155 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121331
SMART Domains Protein: ENSMUSP00000114100
Gene: ENSMUSG00000078656

DomainStartEndE-ValueType
Pfam:ESCRT-II 1 99 1.8e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123529
Predicted Effect probably benign
Transcript: ENSMUST00000128260
SMART Domains Protein: ENSMUSP00000127718
Gene: ENSMUSG00000001240

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000144306
AA Change: Q20*
SMART Domains Protein: ENSMUSP00000131026
Gene: ENSMUSG00000078656
AA Change: Q20*

DomainStartEndE-ValueType
Pfam:ESCRT-II 9 91 2.5e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E8.5. Mice homozygous for a hypomorphic allele exhibit short limbs, polydactyly and craniofacial defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc163 T C 4: 116,568,503 (GRCm39) probably benign Het
Ceacam5 T G 7: 17,481,300 (GRCm39) V349G probably damaging Het
Ces2e T A 8: 105,656,197 (GRCm39) D169E probably benign Het
Cfh G T 1: 140,082,377 (GRCm39) T150K probably benign Het
Chrd A G 16: 20,559,975 (GRCm39) M859V possibly damaging Het
Clca3a2 C T 3: 144,783,629 (GRCm39) probably null Het
Crocc T C 4: 140,749,423 (GRCm39) E1536G probably damaging Het
Dhx57 A G 17: 80,588,652 (GRCm39) V67A probably benign Het
Dock11 T C X: 35,256,701 (GRCm39) V576A probably benign Het
Ighv1-85 A G 12: 115,963,671 (GRCm39) S110P probably damaging Het
Lyg1 G A 1: 37,989,011 (GRCm39) P70S probably damaging Het
Numbl T G 7: 26,980,472 (GRCm39) F485V possibly damaging Het
Or4x6 A T 2: 89,949,412 (GRCm39) C177S probably damaging Het
Pclo A G 5: 14,764,535 (GRCm39) E1051G probably damaging Het
Pdzd2 T C 15: 12,374,712 (GRCm39) S1808G possibly damaging Het
Rad51b T A 12: 79,349,327 (GRCm39) H54Q probably benign Het
Rbbp7 T C X: 161,552,939 (GRCm39) probably benign Het
Rhbdl2 G T 4: 123,723,450 (GRCm39) V285L probably benign Het
Slc22a16 T A 10: 40,461,131 (GRCm39) M311K probably damaging Het
Slc22a21 A G 11: 53,870,407 (GRCm39) S93P probably damaging Het
Stt3b T C 9: 115,082,968 (GRCm39) E488G probably benign Het
Tas2r108 A G 6: 40,470,866 (GRCm39) H114R possibly damaging Het
Tcaim A G 9: 122,643,627 (GRCm39) E109G possibly damaging Het
Tsc22d2 A G 3: 58,323,659 (GRCm39) T184A probably damaging Het
Vmn2r2 G T 3: 64,024,430 (GRCm39) T717N probably damaging Het
Xiap T C X: 41,183,429 (GRCm39) F52L probably damaging Het
Other mutations in Vps25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02795:Vps25 APN 11 101,146,916 (GRCm39) missense probably damaging 1.00
IGL03157:Vps25 APN 11 101,147,723 (GRCm39) missense probably benign 0.04
R0565:Vps25 UTSW 11 101,149,731 (GRCm39) unclassified probably benign
R4169:Vps25 UTSW 11 101,144,918 (GRCm39) missense probably damaging 0.96
R4773:Vps25 UTSW 11 101,149,655 (GRCm39) missense probably benign 0.35
R6586:Vps25 UTSW 11 101,149,835 (GRCm39) missense probably damaging 1.00
R7290:Vps25 UTSW 11 101,149,775 (GRCm39) missense probably damaging 1.00
R9342:Vps25 UTSW 11 101,149,623 (GRCm39) missense probably damaging 1.00
R9719:Vps25 UTSW 11 101,146,853 (GRCm39) missense probably null 1.00
Posted On 2013-11-05