Incidental Mutation 'R3619:Chmp3'
ID 268558
Institutional Source Beutler Lab
Gene Symbol Chmp3
Ensembl Gene ENSMUSG00000053119
Gene Name charged multivesicular body protein 3
Synonyms 9130011K15Rik, 4921505F14Rik, D6Ertd286e, 25.1, Vps24, CGI-49
MMRRC Submission 040676-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3619 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71520820-71559593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71554809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 168 (I168N)
Ref Sequence ENSEMBL: ENSMUSP00000068410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059462] [ENSMUST00000065364] [ENSMUST00000204199] [ENSMUST00000204535]
AlphaFold Q9CQ10
Predicted Effect probably damaging
Transcript: ENSMUST00000059462
AA Change: I168N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109815
Gene: ENSMUSG00000053119
AA Change: I168N

DomainStartEndE-ValueType
Pfam:Snf7 18 188 7.6e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065364
AA Change: I168N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068410
Gene: ENSMUSG00000053119
AA Change: I168N

DomainStartEndE-ValueType
Pfam:Snf7 18 190 4.7e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142169
Predicted Effect probably benign
Transcript: ENSMUST00000204199
SMART Domains Protein: ENSMUSP00000144867
Gene: ENSMUSG00000053119

DomainStartEndE-ValueType
Pfam:Snf7 35 96 1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204535
SMART Domains Protein: ENSMUSP00000145223
Gene: ENSMUSG00000053119

DomainStartEndE-ValueType
Pfam:Snf7 1 60 1.3e-11 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.3%
  • 20x: 95.1%
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 sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc82 T A 9: 13,251,931 (GRCm39) D74E probably benign Het
Dazap1 T C 10: 80,121,194 (GRCm39) probably benign Het
Dpp6 T C 5: 27,926,118 (GRCm39) S673P possibly damaging Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
Fgf11 T C 11: 69,690,234 (GRCm39) S118G probably benign Het
Foxi3 T C 6: 70,934,047 (GRCm39) L178P probably damaging Het
Gbx1 G T 5: 24,731,111 (GRCm39) P235Q probably benign Het
Gm8267 A T 14: 44,961,513 (GRCm39) M60K possibly damaging Het
Gnmt G A 17: 47,039,963 (GRCm39) R39C possibly damaging Het
Hnrnpab T C 11: 51,493,438 (GRCm39) N257D possibly damaging Het
Klhl31 G T 9: 77,562,758 (GRCm39) A508S probably benign Het
Lrif1 A G 3: 106,639,862 (GRCm39) K316E probably damaging Het
Magi3 A T 3: 103,961,721 (GRCm39) F436I probably damaging Het
Mef2a G A 7: 66,918,075 (GRCm39) S111L probably benign Het
Micu1 T C 10: 59,604,080 (GRCm39) probably null Het
Mpst A G 15: 78,294,322 (GRCm39) E18G probably damaging Het
Npepps G T 11: 97,139,091 (GRCm39) F160L possibly damaging Het
Or10al2 T A 17: 37,983,531 (GRCm39) F206I probably benign Het
Or5p81 A T 7: 108,267,057 (GRCm39) I145F probably benign Het
Orc6 T C 8: 86,026,623 (GRCm39) probably null Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Pcdh15 T C 10: 74,479,227 (GRCm39) V708A probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plxna1 C A 6: 89,334,435 (GRCm39) A65S probably damaging Het
Ptprt T C 2: 161,408,077 (GRCm39) Y945C probably damaging Het
Pym1 T G 10: 128,601,073 (GRCm39) V31G probably damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tas1r3 C T 4: 155,945,410 (GRCm39) V604I probably damaging Het
Ttc27 G A 17: 75,058,123 (GRCm39) probably null Het
Wfdc6b A T 2: 164,456,826 (GRCm39) Y46F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Other mutations in Chmp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02649:Chmp3 APN 6 71,529,417 (GRCm39) missense possibly damaging 0.68
R0497:Chmp3 UTSW 6 71,529,395 (GRCm39) missense probably damaging 0.97
R1558:Chmp3 UTSW 6 71,537,954 (GRCm39) nonsense probably null
R1778:Chmp3 UTSW 6 71,554,791 (GRCm39) missense probably benign 0.04
R1829:Chmp3 UTSW 6 71,537,923 (GRCm39) missense probably benign 0.01
R4021:Chmp3 UTSW 6 71,551,222 (GRCm39) critical splice donor site probably null
R7469:Chmp3 UTSW 6 71,556,652 (GRCm39) missense possibly damaging 0.61
R7819:Chmp3 UTSW 6 71,538,008 (GRCm39) nonsense probably null
R8112:Chmp3 UTSW 6 71,538,012 (GRCm39) missense probably benign 0.00
Z1176:Chmp3 UTSW 6 71,556,759 (GRCm39) missense probably damaging 1.00
Z1176:Chmp3 UTSW 6 71,537,948 (GRCm39) missense probably benign
Z1177:Chmp3 UTSW 6 71,520,788 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGCCACGTGGGAAAGATGG -3'
(R):5'- AGTAATGTCAAATTCCTAACAGCTC -3'

Sequencing Primer
(F):5'- CACGTGGGAAAGATGGACTAGACTC -3'
(R):5'- AATTCCTAACAGCTCTTTTCATTGTG -3'
Posted On 2015-02-19