Incidental Mutation 'R6234:Chmp1b'
ID 504840
Institutional Source Beutler Lab
Gene Symbol Chmp1b
Ensembl Gene ENSMUSG00000109901
Gene Name charged multivesicular body protein 1B
Synonyms 2810405I11Rik, chromatin modifying protein 1B
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67338437-67340960 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 67339169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 200 (*200R)
Ref Sequence ENSEMBL: ENSMUSP00000147285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000076605] [ENSMUST00000210564]
AlphaFold Q99LU0
Predicted Effect probably benign
Transcript: ENSMUST00000025402
SMART Domains Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
G_alpha 89 447 1.18e-172 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076605
SMART Domains Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524

DomainStartEndE-ValueType
G_alpha 22 380 5.02e-176 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209359
Predicted Effect probably null
Transcript: ENSMUST00000210564
AA Change: *200R
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Cd34 A T 1: 194,630,308 (GRCm39) I81F probably damaging Het
Clic6 T C 16: 92,296,110 (GRCm39) S257P probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gabrg1 A T 5: 70,999,484 (GRCm39) L22I probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mtch1 A T 17: 29,559,485 (GRCm39) probably null Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Nfkb1 C T 3: 135,332,471 (GRCm39) V95I possibly damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Sap30 A G 8: 57,938,152 (GRCm39) V155A probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Other mutations in Chmp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
U24488:Chmp1b UTSW 18 67,338,945 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTCGAGACTCTGGACGTC -3'
(R):5'- GAACCAGTTCTGTTAAAAGGCAGC -3'

Sequencing Primer
(F):5'- TCCAGACGCAGCAAATGG -3'
(R):5'- CACATCATCATAAGCTAGAAAGAGC -3'
Posted On 2018-02-28