Incidental Mutation 'IGL02964:Chmp1a'
ID365492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp1a
Ensembl Gene ENSMUSG00000000743
Gene Namecharged multivesicular body protein 1A
SynonymsPcoln3, chromatin modifying protein 1A, 2900018H07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.255) question?
Stock #IGL02964
Quality Score
Status
Chromosome8
Chromosomal Location123204264-123212763 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123208067 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 50 (E50G)
Ref Sequence ENSEMBL: ENSMUSP00000000759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000759] [ENSMUST00000060133] [ENSMUST00000127664] [ENSMUST00000212161] [ENSMUST00000212346] [ENSMUST00000212523] [ENSMUST00000212637] [ENSMUST00000212760] [ENSMUST00000212892]
Predicted Effect probably damaging
Transcript: ENSMUST00000000759
AA Change: E50G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000759
Gene: ENSMUSG00000000743
AA Change: E50G

DomainStartEndE-ValueType
Pfam:Snf7 4 174 6.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060133
SMART Domains Protein: ENSMUSP00000058002
Gene: ENSMUSG00000048478

DomainStartEndE-ValueType
low complexity region 4 28 N/A INTRINSIC
Pfam:DUF4609 63 130 3.4e-42 PFAM
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
Predicted Effect probably benign
Transcript: ENSMUST00000212161
Predicted Effect probably benign
Transcript: ENSMUST00000212346
Predicted Effect probably benign
Transcript: ENSMUST00000212523
Predicted Effect probably benign
Transcript: ENSMUST00000212637
Predicted Effect probably benign
Transcript: ENSMUST00000212760
Predicted Effect probably benign
Transcript: ENSMUST00000212892
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Capg T A 6: 72,562,844 I340N probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Exd2 T A 12: 80,480,528 V165D probably damaging Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gm42742 A T 7: 127,016,846 S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Med4 A G 14: 73,517,921 Q223R probably damaging Het
Mmd2 G T 5: 142,569,477 F153L probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Olfr954 A G 9: 39,461,781 T117A possibly damaging Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G probably benign Het
Other mutations in Chmp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Chmp1a APN 8 123209019 critical splice donor site probably null
IGL01872:Chmp1a APN 8 123206237 missense probably damaging 1.00
R0288:Chmp1a UTSW 8 123208006 missense probably damaging 1.00
R2074:Chmp1a UTSW 8 123208022 missense probably damaging 0.98
R2075:Chmp1a UTSW 8 123208022 missense probably damaging 0.98
R5070:Chmp1a UTSW 8 123206315 missense probably benign 0.13
R5840:Chmp1a UTSW 8 123208100 missense probably benign 0.22
R8307:Chmp1a UTSW 8 123206241 missense probably damaging 0.98
Z1177:Chmp1a UTSW 8 123206331 missense probably benign 0.05
Posted On2015-12-18