Incidental Mutation 'R9303:Chmp4c'
ID 705049
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 # R9303 (G1)
Quality Score 225.009
Status 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: 98.8%
Validation Efficiency 100% (57/57)
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
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adcy1 T C 11: 7,094,766 (GRCm39) V564A 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
Arv1 T A 8: 125,457,685 (GRCm39) H196Q probably damaging Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Chrna5 T C 9: 54,912,156 (GRCm39) F319L probably benign Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Ctnnd2 T C 15: 30,967,037 (GRCm39) M996T probably damaging Het
Dbf4 T C 5: 8,448,102 (GRCm39) T328A unknown Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fat1 T A 8: 45,463,498 (GRCm39) W1347R probably damaging Het
Fbxw21 A G 9: 108,986,727 (GRCm39) F51L probably benign 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
Inpp4b C T 8: 82,759,758 (GRCm39) A601V probably damaging Het
Kdm2a A G 19: 4,395,606 (GRCm39) Y342H probably benign Het
Kidins220 C A 12: 25,107,110 (GRCm39) T1430K probably benign Het
Knl1 T C 2: 118,898,829 (GRCm39) C177R possibly damaging 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
Lama4 T C 10: 38,973,137 (GRCm39) L1568P probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or5h23 A G 16: 58,906,802 (GRCm39) S15P probably benign Het
Or8c19-ps1 C T 9: 38,220,463 (GRCm39) T124M 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
Raet1e C T 10: 22,057,872 (GRCm39) T213I possibly damaging Het
Reln T A 5: 22,193,705 (GRCm39) S1418C possibly damaging Het
Reln T C 5: 22,285,689 (GRCm39) S427G probably benign Het
Rhobtb2 G A 14: 70,025,376 (GRCm39) H633Y probably 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
Sorl1 G T 9: 41,900,739 (GRCm39) Q1658K probably damaging 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
Zfp354b T A 11: 50,820,256 (GRCm39) R36S probably damaging 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
R9305: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'- TCCTAGGTTCCCGAGACAGTAG -3'
(R):5'- TCTCCTATAATGCTACGGGCCC -3'

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