Incidental Mutation 'R9305:Chmp4c'
ID 705149
Institutional Source Beutler Lab
Gene Symbol Chmp4c
Ensembl Gene ENSMUSG00000027536
Gene Name charged multivesicular body protein 4C
Synonyms Snf7-3, chromatin modifying protein 4C, 2310010I16Rik, 2210015K02Rik, 2010012P02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 10432033-10456065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10454974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 214 (S214A)
Ref Sequence ENSEMBL: ENSMUSP00000029049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029049] [ENSMUST00000191826]
AlphaFold Q9D7F7
Predicted Effect probably benign
Transcript: ENSMUST00000029049
AA Change: S214A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029049
Gene: ENSMUSG00000027536
AA Change: S214A

DomainStartEndE-ValueType
Pfam:Snf7 24 193 3.3e-55 PFAM
low complexity region 209 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191826
SMART Domains Protein: ENSMUSP00000141606
Gene: ENSMUSG00000027536

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
PDB:4ABM|D 29 64 3e-10 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHMP4C 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,989 (GRCm39) I1227V probably benign Het
Abhd8 A G 8: 71,911,148 (GRCm39) V261A possibly damaging Het
Adam34 A T 8: 44,104,416 (GRCm39) C410S probably damaging Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adgre1 A G 17: 57,748,275 (GRCm39) N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 (GRCm39) V450M probably damaging Het
Apob A G 12: 8,058,053 (GRCm39) I2178M probably benign Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Cacng2 T G 15: 77,897,542 (GRCm39) Y89S possibly damaging Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cdh9 T A 15: 16,832,138 (GRCm39) Y342N probably damaging Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Clstn2 T A 9: 97,343,537 (GRCm39) I637F probably damaging Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Ddx55 C T 5: 124,705,012 (GRCm39) S427F probably damaging Het
Dpysl5 T C 5: 30,948,959 (GRCm39) W405R probably damaging Het
Esyt1 A G 10: 128,355,388 (GRCm39) V451A possibly damaging Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Foxa3 A G 7: 18,748,961 (GRCm39) L55P possibly damaging Het
Gng2 G T 14: 19,925,961 (GRCm39) H44N probably damaging Het
Hps5 G A 7: 46,438,619 (GRCm39) T38I possibly damaging Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Klb T A 5: 65,505,988 (GRCm39) Y78* probably null Het
Krt32 T C 11: 99,972,029 (GRCm39) T440A probably benign Het
Kynu T A 2: 43,569,768 (GRCm39) F350Y probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Lrrc43 C T 5: 123,646,219 (GRCm39) A657V unknown Het
Mief2 C A 11: 60,622,042 (GRCm39) P204Q possibly damaging Het
Morc3 G T 16: 93,667,302 (GRCm39) R560L probably benign Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or8c20 A C 9: 38,260,381 (GRCm39) M1L probably benign Het
Orc3 G A 4: 34,607,181 (GRCm39) R50* probably null Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Parp4 TG T 14: 56,832,790 (GRCm39) probably null Het
Parp4 T C 14: 56,852,224 (GRCm39) probably null Het
Pcdhb18 A C 18: 37,625,004 (GRCm39) H778P probably benign Het
Polg A T 7: 79,105,860 (GRCm39) Y710N probably benign Het
Ppp2r2b C A 18: 42,779,025 (GRCm39) R370L possibly damaging Het
Prune2 A G 19: 17,097,625 (GRCm39) D1043G probably benign Het
Rpl6 T C 5: 121,346,516 (GRCm39) S206P possibly damaging Het
Serpina3i T C 12: 104,234,881 (GRCm39) V404A probably damaging Het
Serpinb8 T C 1: 107,526,769 (GRCm39) probably null Het
Stx11 A T 10: 12,817,564 (GRCm39) D53E probably benign Het
Thoc3 C T 13: 54,607,998 (GRCm39) W315* probably null Het
Tmem26 G A 10: 68,559,816 (GRCm39) W29* probably null Het
Togaram2 A G 17: 71,996,408 (GRCm39) E137G probably damaging Het
Ttc39b A G 4: 83,151,023 (GRCm39) L524S probably damaging Het
Usp43 T C 11: 67,767,345 (GRCm39) N675S probably damaging Het
Vmn2r104 A G 17: 20,268,439 (GRCm39) L10P possibly damaging Het
Zbtb1 G A 12: 76,432,773 (GRCm39) R253Q probably damaging Het
Zfc3h1 A G 10: 115,255,771 (GRCm39) D1474G probably benign Het
Zfp873 T C 10: 81,896,514 (GRCm39) F415S probably benign Het
Other mutations in Chmp4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1536:Chmp4c UTSW 3 10,454,744 (GRCm39) missense probably benign
R1916:Chmp4c UTSW 3 10,454,996 (GRCm39) missense probably benign 0.02
R5114:Chmp4c UTSW 3 10,450,646 (GRCm39) missense probably benign
R5141:Chmp4c UTSW 3 10,432,213 (GRCm39) missense probably damaging 0.99
R6383:Chmp4c UTSW 3 10,432,277 (GRCm39) missense probably damaging 1.00
R6788:Chmp4c UTSW 3 10,432,195 (GRCm39) missense possibly damaging 0.94
R7218:Chmp4c UTSW 3 10,432,198 (GRCm39) missense probably damaging 1.00
R8350:Chmp4c UTSW 3 10,450,746 (GRCm39) missense possibly damaging 0.61
R8450:Chmp4c UTSW 3 10,450,746 (GRCm39) missense possibly damaging 0.61
R9303:Chmp4c UTSW 3 10,454,974 (GRCm39) missense probably benign 0.02
R9606:Chmp4c UTSW 3 10,432,222 (GRCm39) missense probably damaging 0.99
X0067:Chmp4c UTSW 3 10,432,123 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TAGGTTCCCGAGACAGTAGG -3'
(R):5'- TAATGCTACGGGCCCCTTTC -3'

Sequencing Primer
(F):5'- GCGGGCCTGTTGCTTCAG -3'
(R):5'- ATCTCTGACTATCCCTTAACTGTTAC -3'
Posted On 2022-03-25