Incidental Mutation 'R2187:Chmp6'
Institutional Source Beutler Lab
Gene Symbol Chmp6
Ensembl Gene ENSMUSG00000025371
Gene Namecharged multivesicular body protein 6
Synonyms2400004G01Rik, chromatin modifying protein 6
MMRRC Submission 040189-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2187 (G1)
Quality Score225
Status Not validated
Chromosomal Location119913441-119919548 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119916736 bp
Amino Acid Change Glutamic Acid to Glycine at position 135 (E135G)
Ref Sequence ENSEMBL: ENSMUSP00000026434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026434] [ENSMUST00000124199] [ENSMUST00000132197] [ENSMUST00000148232]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026434
AA Change: E135G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026434
Gene: ENSMUSG00000025371
AA Change: E135G

Pfam:Snf7 18 178 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124199
Predicted Effect possibly damaging
Transcript: ENSMUST00000132197
AA Change: E49G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114645
Gene: ENSMUSG00000025371
AA Change: E49G

Pfam:Snf7 1 78 5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139814
Predicted Effect probably benign
Transcript: ENSMUST00000148232
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310050C09Rik A G 3: 92,868,615 S254P probably damaging Het
Abcg1 T A 17: 31,105,517 S245R probably damaging Het
AI597479 T A 1: 43,100,823 W70R probably damaging Het
Ankrd55 A G 13: 112,383,505 S575G probably benign Het
Bfsp2 T A 9: 103,426,777 K343* probably null Het
Cant1 A T 11: 118,408,841 Y227* probably null Het
Cd2bp2 T C 7: 127,194,791 N109D probably benign Het
Dsp T G 13: 38,176,407 S329R probably damaging Het
Epha5 A T 5: 84,086,364 F767L probably damaging Het
Epha7 A T 4: 28,942,648 T566S possibly damaging Het
Erap1 A T 13: 74,662,405 I288F probably damaging Het
Erich6 A G 3: 58,629,845 probably null Het
Fbxo10 A G 4: 45,058,531 V402A probably benign Het
Fndc1 T A 17: 7,741,772 I1604F probably damaging Het
Foxd4 T G 19: 24,899,855 Q327P probably damaging Het
Fxn T A 19: 24,280,489 N26I probably benign Het
Hsf5 G T 11: 87,638,184 G582C possibly damaging Het
Itga8 A G 2: 12,194,420 V522A possibly damaging Het
Lyst C T 13: 13,709,341 T2938I possibly damaging Het
Mib2 T C 4: 155,654,933 E863G possibly damaging Het
Mrgpra9 A G 7: 47,235,049 F290S probably damaging Het
Mst1 T C 9: 108,084,340 Y599H possibly damaging Het
Mylk4 T C 13: 32,722,013 I165V probably damaging Het
Nipsnap2 T C 5: 129,746,473 probably null Het
Nol8 T C 13: 49,661,999 Y528H probably benign Het
Nup93 T A 8: 94,300,850 S295R probably damaging Het
Nutm2 A T 13: 50,467,417 Q6L probably benign Het
Olfr11 A T 13: 21,639,385 I46N probably damaging Het
Olfr1445 T A 19: 12,884,255 C125S probably damaging Het
Olfr820 A G 10: 130,017,688 E109G probably damaging Het
Olfr988 T G 2: 85,353,915 S4R probably benign Het
Pip5k1a A T 3: 95,071,918 L189Q probably damaging Het
Plekha4 C T 7: 45,549,274 R574C probably damaging Het
Ppp2cb A G 8: 33,610,677 E42G possibly damaging Het
Prkd3 T A 17: 78,975,554 Q244L probably benign Het
Ptpn14 C T 1: 189,863,228 R1023* probably null Het
Ptpra A G 2: 130,504,299 T127A probably benign Het
Rasgrf1 T C 9: 89,994,835 I751T possibly damaging Het
Rbm27 A G 18: 42,325,957 K697R probably damaging Het
Rhoa C T 9: 108,335,153 T127M probably benign Het
Rnpepl1 A G 1: 92,916,895 S370G probably null Het
Sdk1 C T 5: 142,114,574 T1453I probably damaging Het
Sel1l2 A G 2: 140,230,873 L614S probably damaging Het
Slc6a20b T A 9: 123,598,588 I419F probably damaging Het
Slc8a1 C T 17: 81,648,553 S352N possibly damaging Het
Spta1 A G 1: 174,192,966 D547G probably damaging Het
Tc2n G A 12: 101,706,544 T46I probably damaging Het
Terb1 T A 8: 104,472,884 Y476F probably benign Het
Trim12a T A 7: 104,304,192 E237D probably damaging Het
Usp47 T C 7: 112,067,191 L309P probably damaging Het
Other mutations in Chmp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Chmp6 APN 11 119916986 missense probably benign 0.19
IGL03405:Chmp6 APN 11 119915447 missense probably damaging 1.00
R0035:Chmp6 UTSW 11 119916682 missense probably damaging 0.99
R0164:Chmp6 UTSW 11 119915523 critical splice donor site probably null
R0164:Chmp6 UTSW 11 119915523 critical splice donor site probably null
R0345:Chmp6 UTSW 11 119918046 unclassified probably benign
R1528:Chmp6 UTSW 11 119916715 missense probably benign 0.04
R5026:Chmp6 UTSW 11 119918643 missense probably damaging 0.98
R5799:Chmp6 UTSW 11 119916691 missense probably benign 0.41
R7059:Chmp6 UTSW 11 119916040 missense probably damaging 0.98
R7486:Chmp6 UTSW 11 119916957 missense probably benign 0.38
R7490:Chmp6 UTSW 11 119915443 nonsense probably null
R7862:Chmp6 UTSW 11 119917010 critical splice donor site probably null
R7908:Chmp6 UTSW 11 119913830 unclassified probably benign
X0025:Chmp6 UTSW 11 119916116 splice site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-02