Incidental Mutation 'R0164:Chmp6'
Institutional Source Beutler Lab
Gene Symbol Chmp6
Ensembl Gene ENSMUSG00000025371
Gene Namecharged multivesicular body protein 6
Synonyms2400004G01Rik, chromatin modifying protein 6
MMRRC Submission 038440-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0164 (G1)
Quality Score211
Status Not validated
Chromosomal Location119913441-119919548 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 119915523 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026434] [ENSMUST00000124199] [ENSMUST00000132197] [ENSMUST00000148232]
Predicted Effect probably null
Transcript: ENSMUST00000026434
SMART Domains Protein: ENSMUSP00000026434
Gene: ENSMUSG00000025371

Pfam:Snf7 18 178 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124199
Predicted Effect probably null
Transcript: ENSMUST00000132197
SMART Domains Protein: ENSMUSP00000114645
Gene: ENSMUSG00000025371

Pfam:Snf7 1 78 5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139814
Predicted Effect probably null
Transcript: ENSMUST00000148232
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 69% (18/26)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,295,159 probably benign Het
4930522L14Rik T C 5: 109,736,847 K382E probably damaging Het
Adck1 A G 12: 88,455,510 E297G probably damaging Het
Aldh3a2 C T 11: 61,248,888 V473I probably benign Het
Arfgef3 A T 10: 18,647,915 I369K possibly damaging Het
Atp1b3 T C 9: 96,338,709 I178V possibly damaging Het
Axdnd1 T C 1: 156,378,386 E520G possibly damaging Het
BB019430 A T 10: 58,704,271 noncoding transcript Het
Btbd1 T A 7: 81,801,003 Q343L probably benign Het
Catsper1 A G 19: 5,339,475 T473A possibly damaging Het
D130040H23Rik T C 8: 69,302,543 V200A possibly damaging Het
D830013O20Rik C T 12: 73,364,331 noncoding transcript Het
Dcaf1 T A 9: 106,844,145 S379T possibly damaging Het
Dhx58 T C 11: 100,695,324 I624V probably benign Het
Disp3 T C 4: 148,254,251 E821G probably damaging Het
Dlc1 T A 8: 36,599,440 E464V probably damaging Het
Dnah10 G A 5: 124,783,834 V2151I probably damaging Het
Dnah8 G A 17: 30,748,665 G2617D probably benign Het
Dnah9 C A 11: 65,918,804 E872* probably null Het
Dock9 T C 14: 121,597,665 Y99C probably damaging Het
Dpy19l3 T A 7: 35,716,646 I310F probably damaging Het
Fggy A T 4: 95,837,654 I137F probably damaging Het
Gm14012 C T 2: 128,238,016 noncoding transcript Het
Gm14421 A T 2: 177,056,722 noncoding transcript Het
Gm5689 T A 18: 42,173,543 D58E probably damaging Het
Grin2a A G 16: 9,994,821 probably null Het
Incenp A G 19: 9,894,879 S72P probably benign Het
Klc3 T A 7: 19,394,926 N469Y possibly damaging Het
Lrrc42 A G 4: 107,247,505 S88P probably benign Het
Lrrc49 G A 9: 60,680,600 T93I probably benign Het
Mlycd A T 8: 119,407,641 Q294L probably damaging Het
Mrpl22 T A 11: 58,171,821 I19N probably benign Het
Msh3 T A 13: 92,349,209 K202N probably damaging Het
Mucl2 C T 15: 103,899,179 probably null Het
Ncam1 C T 9: 49,568,409 D90N probably damaging Het
Nckap5 A T 1: 126,024,407 D1405E possibly damaging Het
Ncoa2 A G 1: 13,186,731 probably null Het
Nlrp1b A T 11: 71,164,099 W844R probably damaging Het
Nmnat1 G T 4: 149,469,150 N168K possibly damaging Het
Olfr1446 A G 19: 12,890,445 L44P probably damaging Het
Ost4 T C 5: 30,907,459 H26R probably damaging Het
Otog G A 7: 46,304,231 V2638M probably damaging Het
Otogl A T 10: 107,874,530 I566N probably damaging Het
Pcyt1a T C 16: 32,470,186 S282P probably damaging Het
Prkcg G A 7: 3,329,119 E581K probably damaging Het
Ralgps2 A G 1: 156,887,089 probably null Het
Scmh1 T C 4: 120,529,865 probably benign Het
Sgo2b T C 8: 63,938,383 H150R possibly damaging Het
Sh2b3 T G 5: 121,829,037 T5P probably damaging Het
Tdp2 A G 13: 24,838,239 M214V probably damaging Het
Tmem204 A G 17: 25,058,350 I187T probably damaging Het
Tmem208 T G 8: 105,334,694 D117E probably benign Het
Tnks1bp1 C T 2: 85,059,221 P631S possibly damaging Het
Tomm70a T C 16: 57,147,821 V517A probably damaging Het
Ttc7 T C 17: 87,379,895 V801A probably damaging Het
Txndc5 A T 13: 38,507,953 C146S probably damaging Het
Ube4b G T 4: 149,360,324 T493K probably damaging Het
Ufl1 A T 4: 25,256,008 Y504N probably benign Het
Ulk3 T A 9: 57,590,686 I90N probably damaging Het
Unc13c T C 9: 73,694,892 I1357M probably benign Het
Vmn1r28 G A 6: 58,265,717 A182T probably benign Het
Vmn2r91 A C 17: 18,106,137 N228T probably benign Het
Wisp1 T C 15: 66,919,210 L287P probably damaging Het
Zbtb6 G T 2: 37,429,588 Y109* probably null Het
Zfp640 C A 13: 66,670,974 noncoding transcript Het
Zfp640 G T 13: 66,670,998 noncoding transcript Het
Zfp980 A G 4: 145,701,997 D432G probably benign 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
R0345:Chmp6 UTSW 11 119918046 unclassified probably benign
R1528:Chmp6 UTSW 11 119916715 missense probably benign 0.04
R2187:Chmp6 UTSW 11 119916736 missense possibly damaging 0.95
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
R7945:Chmp6 UTSW 11 119917010 critical splice donor site probably null
X0025:Chmp6 UTSW 11 119916116 splice site probably null
Predicted Primers
Posted On2013-04-16