Incidental Mutation 'IGL01872:Chmp1a'
ID 178762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp1a
Ensembl Gene ENSMUSG00000000743
Gene Name charged multivesicular body protein 1A
Synonyms Pcoln3, chromatin modifying protein 1A, 2900018H07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # IGL01872
Quality Score
Status
Chromosome 8
Chromosomal Location 123931003-123939502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123932976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 159 (L159Q)
Ref Sequence ENSEMBL: ENSMUSP00000000759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000759] [ENSMUST00000019422] [ENSMUST00000127664]
AlphaFold Q921W0
Predicted Effect probably damaging
Transcript: ENSMUST00000000759
AA Change: L159Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000759
Gene: ENSMUSG00000000743
AA Change: L159Q

DomainStartEndE-ValueType
Pfam:Snf7 4 174 6.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019422
SMART Domains Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278

DomainStartEndE-ValueType
Pfam:Peptidase_M19 25 352 4.1e-122 PFAM
low complexity region 398 410 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212107
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 CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,120 (GRCm39) probably benign Het
Alpk2 A G 18: 65,437,824 (GRCm39) S1657P probably benign Het
Alx4 A G 2: 93,507,818 (GRCm39) N371S probably benign Het
Cby1 T A 15: 79,549,943 (GRCm39) W59R probably damaging Het
Ciz1 T C 2: 32,268,121 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,956,275 (GRCm39) I603T probably benign Het
Dph1 A C 11: 75,072,167 (GRCm39) F220C probably damaging Het
Epha4 T A 1: 77,359,676 (GRCm39) M726L probably benign Het
Eps8l1 C T 7: 4,475,295 (GRCm39) probably benign Het
Fbxo24 C A 5: 137,611,987 (GRCm39) R313L probably damaging Het
Fgf4 C T 7: 144,415,995 (GRCm39) R119* probably null Het
Grb10 T C 11: 11,920,547 (GRCm39) T24A probably damaging Het
Ifi27l2a C T 12: 103,401,719 (GRCm39) A2V probably damaging Het
Ipmk T A 10: 71,208,706 (GRCm39) M165K probably damaging Het
Kcnk2 C T 1: 188,988,780 (GRCm39) G266R probably damaging Het
Mak A C 13: 41,210,131 (GRCm39) M35R probably damaging Het
Mlxipl A T 5: 135,142,545 (GRCm39) I120F probably damaging Het
Nav1 A G 1: 135,381,814 (GRCm39) V1423A probably damaging Het
Olfm4 T C 14: 80,259,368 (GRCm39) *506Q probably null Het
Opn4 T A 14: 34,319,166 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,176 (GRCm39) L4P possibly damaging Het
Or52ab2 T C 7: 102,970,179 (GRCm39) V187A probably benign Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Otof G A 5: 30,536,598 (GRCm39) probably benign Het
Pde5a G A 3: 122,588,018 (GRCm39) probably null Het
Pik3r1 A T 13: 101,825,625 (GRCm39) D87E probably benign Het
Rbm6 A T 9: 107,660,914 (GRCm39) V883E probably damaging Het
Rptn A G 3: 93,304,154 (GRCm39) S496G probably benign Het
Sap130 A G 18: 31,807,473 (GRCm39) R427G probably damaging Het
Slc26a4 T C 12: 31,589,202 (GRCm39) S415G probably benign Het
Slc5a1 T C 5: 33,311,981 (GRCm39) S458P probably damaging Het
Smg1 A G 7: 117,748,167 (GRCm39) probably benign Het
Sspo G T 6: 48,431,623 (GRCm39) V639L probably damaging Het
Ttn A G 2: 76,729,077 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps54 G A 11: 21,256,940 (GRCm39) A683T probably damaging Het
Zfp354a A T 11: 50,960,164 (GRCm39) N123I possibly damaging Het
Zfpm2 T C 15: 40,965,783 (GRCm39) V624A probably benign Het
Other mutations in Chmp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Chmp1a APN 8 123,935,758 (GRCm39) critical splice donor site probably null
IGL02964:Chmp1a APN 8 123,934,806 (GRCm39) missense probably damaging 0.98
R0288:Chmp1a UTSW 8 123,934,745 (GRCm39) missense probably damaging 1.00
R2074:Chmp1a UTSW 8 123,934,761 (GRCm39) missense probably damaging 0.98
R2075:Chmp1a UTSW 8 123,934,761 (GRCm39) missense probably damaging 0.98
R5070:Chmp1a UTSW 8 123,933,054 (GRCm39) missense probably benign 0.13
R5840:Chmp1a UTSW 8 123,934,839 (GRCm39) missense probably benign 0.22
R8307:Chmp1a UTSW 8 123,932,980 (GRCm39) missense probably damaging 0.98
Z1177:Chmp1a UTSW 8 123,933,070 (GRCm39) missense probably benign 0.05
Posted On 2014-05-07