Incidental Mutation 'IGL01879:Chmp4b'
ID 179009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp4b
Ensembl Gene ENSMUSG00000038467
Gene Name charged multivesicular body protein 4B
Synonyms chromatin modifying protein 4B, 2010012F05Rik, Snf7-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01879
Quality Score
Status
Chromosome 2
Chromosomal Location 154498949-154536703 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 154534601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044277]
AlphaFold Q9D8B3
Predicted Effect probably benign
Transcript: ENSMUST00000044277
SMART Domains Protein: ENSMUSP00000036206
Gene: ENSMUSG00000038467

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:Snf7 24 199 8.5e-61 PFAM
low complexity region 205 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151668
Coding Region Coverage
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 (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion die between E7.5 and E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cgn G A 3: 94,681,674 (GRCm39) R474* probably null Het
Chst15 A G 7: 131,871,994 (GRCm39) Y96H possibly damaging Het
Clstn3 A G 6: 124,415,769 (GRCm39) S638P probably damaging Het
Colq C T 14: 31,265,952 (GRCm39) G187E probably damaging Het
Cyp2b23 A G 7: 26,372,279 (GRCm39) Y389H probably benign Het
Cyp3a13 T C 5: 137,917,265 (GRCm39) Q54R probably benign Het
Dscc1 T C 15: 54,950,212 (GRCm39) I178V probably benign Het
Fbxo4 G A 15: 4,005,436 (GRCm39) T148M probably damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Grid1 T A 14: 35,172,327 (GRCm39) I611N possibly damaging Het
Mgat5 T C 1: 127,325,287 (GRCm39) F385L probably damaging Het
Npepps T C 11: 97,149,166 (GRCm39) T17A possibly damaging Het
Or4c125 T C 2: 89,170,366 (GRCm39) I93M probably benign Het
Or4n4b A G 14: 50,535,969 (GRCm39) S266P probably benign Het
Or5p60 A T 7: 107,724,371 (GRCm39) I33N possibly damaging Het
Or7g29 A T 9: 19,286,703 (GRCm39) L158* probably null Het
Parg T C 14: 31,993,579 (GRCm39) probably benign Het
Rad51ap2 A G 12: 11,508,139 (GRCm39) D687G probably benign Het
Sh3bp1 T G 15: 78,792,192 (GRCm39) S450A probably damaging Het
Skap2 T C 6: 51,973,014 (GRCm39) D90G possibly damaging Het
Smc5 C T 19: 23,205,548 (GRCm39) R796H probably damaging Het
Tdrd12 A C 7: 35,221,348 (GRCm39) I146S probably damaging Het
Tinf2 T C 14: 55,918,363 (GRCm39) probably benign Het
Trio G A 15: 27,741,119 (GRCm39) T2702I probably benign Het
Vmn1r88 T A 7: 12,912,229 (GRCm39) M195K probably benign Het
Vmn2r110 T C 17: 20,794,122 (GRCm39) H849R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r4 C T 3: 64,298,431 (GRCm39) G566R probably damaging Het
Wdpcp A G 11: 21,661,630 (GRCm39) T301A probably damaging Het
Other mutations in Chmp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1460:Chmp4b UTSW 2 154,534,515 (GRCm39) missense possibly damaging 0.93
R1717:Chmp4b UTSW 2 154,499,240 (GRCm39) missense possibly damaging 0.62
R4991:Chmp4b UTSW 2 154,534,545 (GRCm39) missense probably benign 0.00
R5932:Chmp4b UTSW 2 154,533,201 (GRCm39) missense probably benign 0.35
R7065:Chmp4b UTSW 2 154,533,162 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07