Incidental Mutation 'IGL03305:Chmp2a'
ID 416369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp2a
Ensembl Gene ENSMUSG00000033916
Gene Name charged multivesicular body protein 2A
Synonyms 1500016L11Rik, chromatin modifying protein 2A
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL03305
Quality Score
Status
Chromosome 7
Chromosomal Location 12765933-12768704 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12766082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 137 (K137E)
Ref Sequence ENSEMBL: ENSMUSP00000148233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000211626] [ENSMUST00000210587] [ENSMUST00000211344] [ENSMUST00000211369]
AlphaFold Q9DB34
Predicted Effect probably benign
Transcript: ENSMUST00000005705
SMART Domains Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
low complexity region 37 57 N/A INTRINSIC
RING 66 121 1.2e-7 SMART
BBOX 149 196 2.97e-12 SMART
BBOX 205 246 1.11e-11 SMART
BBC 253 379 7.92e-39 SMART
low complexity region 420 432 N/A INTRINSIC
low complexity region 525 551 N/A INTRINSIC
low complexity region 555 576 N/A INTRINSIC
PHD 627 670 2.16e-9 SMART
RING 628 669 8.32e0 SMART
BROMO 697 801 6.5e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000005711
AA Change: K197E

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916
AA Change: K197E

DomainStartEndE-ValueType
Pfam:Snf7 17 187 9.5e-50 PFAM
coiled coil region 196 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000005714
SMART Domains Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 32 173 8.83e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123541
SMART Domains Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 1 162 2.43e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149061
Predicted Effect probably benign
Transcript: ENSMUST00000125964
SMART Domains Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 20 161 3.67e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156389
SMART Domains Protein: ENSMUSP00000117123
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
PDB:2NVU|C 69 138 4e-38 PDB
SCOP:d2e2c__ 83 136 2e-8 SMART
Blast:UBCc 92 138 4e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000165394
SMART Domains Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 2 76 4.51e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000211626
AA Change: K147E

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000210587
AA Change: K197E

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211344
AA Change: K137E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209577
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHMP2A 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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik T A 8: 100,146,462 (GRCm39) probably benign Het
Akap3 G A 6: 126,841,728 (GRCm39) V116I probably benign Het
B4galt5 T C 2: 167,147,703 (GRCm39) D224G probably damaging Het
Bmpr1b G T 3: 141,548,785 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,011,464 (GRCm39) K159R probably benign Het
Dhx36 G A 3: 62,408,257 (GRCm39) Q194* probably null Het
Gm4922 T A 10: 18,659,232 (GRCm39) K497* probably null Het
Grid1 A G 14: 34,973,664 (GRCm39) N247S probably damaging Het
Npy6r A G 18: 44,408,921 (GRCm39) Y114C probably damaging Het
Ppl A G 16: 4,911,097 (GRCm39) V785A possibly damaging Het
Tmprss11d T C 5: 86,474,279 (GRCm39) H88R probably damaging Het
Wdr64 G A 1: 175,583,152 (GRCm39) V373M possibly damaging Het
Other mutations in Chmp2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Chmp2a APN 7 12,767,782 (GRCm39) nonsense probably null
kestrel UTSW 7 12,766,601 (GRCm39) missense probably damaging 0.98
R0631:Chmp2a UTSW 7 12,766,371 (GRCm39) missense probably damaging 1.00
R1927:Chmp2a UTSW 7 12,767,863 (GRCm39) missense possibly damaging 0.92
R5209:Chmp2a UTSW 7 12,766,601 (GRCm39) missense probably damaging 0.98
R5568:Chmp2a UTSW 7 12,767,758 (GRCm39) missense probably benign 0.45
R5620:Chmp2a UTSW 7 12,766,237 (GRCm39) missense probably benign 0.00
R5830:Chmp2a UTSW 7 12,766,039 (GRCm39) missense probably damaging 0.99
R6435:Chmp2a UTSW 7 12,766,701 (GRCm39) nonsense probably null
R8891:Chmp2a UTSW 7 12,767,840 (GRCm39) missense probably benign 0.01
R9163:Chmp2a UTSW 7 12,766,645 (GRCm39) missense possibly damaging 0.85
R9653:Chmp2a UTSW 7 12,766,456 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02