Incidental Mutation 'IGL02211:Apoc3'
ID 284731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apoc3
Ensembl Gene ENSMUSG00000032081
Gene Name apolipoprotein C-III
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02211
Quality Score
Status
Chromosome 9
Chromosomal Location 46144348-46146934 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 46144513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034586] [ENSMUST00000034588] [ENSMUST00000118649] [ENSMUST00000121916] [ENSMUST00000132155] [ENSMUST00000145672]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034586
SMART Domains Protein: ENSMUSP00000034586
Gene: ENSMUSG00000032081

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 91 2.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034588
SMART Domains Protein: ENSMUSP00000034588
Gene: ENSMUSG00000032083

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 68 259 1.2e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118649
SMART Domains Protein: ENSMUSP00000113058
Gene: ENSMUSG00000032081

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 91 2.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121916
SMART Domains Protein: ENSMUSP00000113126
Gene: ENSMUSG00000032081

DomainStartEndE-ValueType
Pfam:Apo-CIII 60 129 7.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132155
Predicted Effect probably benign
Transcript: ENSMUST00000145672
SMART Domains Protein: ENSMUSP00000115025
Gene: ENSMUSG00000032081

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 53 4.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214729
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an apolipoprotein which is the major protein component of very-low-density lipoproteins (VLDL) and a minor component of high-density lipoproteins (HDL). The encoded protein is thought to regulate the metabolism of triglyceride-rich lipoproteins and play a role in lipid storage and the mobilization of fat cells. This gene is clustered with three other apolipoprotein genes on chromosome 9 and is associated with coronary disease. Mice lacking this gene have lower levels of total cholesterol in the plasma. Mutations in the human genes causes hyperalphalipoproteinemia 2, a disorder of lipid metabolism which results in a favorable lipid profile (lower LDL-cholesterol, higher HDL-cholesterol and lower levels of serum triglycerides when fasting and after a meal). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced fasted triglyceride levels, increased triglyceride secretion rate, and loss of postprandial and obesity-associated hypertriglyceridemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 C T 14: 60,265,425 (GRCm39) G304R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cct4 A G 11: 22,943,327 (GRCm39) probably benign Het
Cd28 T C 1: 60,802,153 (GRCm39) V24A probably damaging Het
Cfap70 T C 14: 20,445,040 (GRCm39) N1080S probably damaging Het
Cpa6 A T 1: 10,665,861 (GRCm39) I59K possibly damaging Het
Cramp1 A G 17: 25,196,610 (GRCm39) S835P possibly damaging Het
Crim1 T C 17: 78,662,574 (GRCm39) L799S probably damaging Het
Cxcl16 T C 11: 70,346,858 (GRCm39) H95R possibly damaging Het
Dip2c T A 13: 9,660,883 (GRCm39) C915S probably damaging Het
Dytn T A 1: 63,714,089 (GRCm39) N137Y possibly damaging Het
Exoc5 T A 14: 49,251,667 (GRCm39) Q628L probably damaging Het
Flii A G 11: 60,609,124 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,853,121 (GRCm39) probably benign Het
Iqsec1 A G 6: 90,648,591 (GRCm39) L830P probably damaging Het
Kank1 G T 19: 25,407,702 (GRCm39) G1232V probably damaging Het
Kcnmb2 A G 3: 32,252,483 (GRCm39) E228G probably damaging Het
Limk1 A T 5: 134,686,491 (GRCm39) V538E probably damaging Het
Mmp20 T A 9: 7,655,071 (GRCm39) I393K probably damaging Het
Mtmr1 A G X: 70,455,863 (GRCm39) D574G possibly damaging Het
Nr1h2 A C 7: 44,199,884 (GRCm39) M345R probably damaging Het
Nyap1 T C 5: 137,737,937 (GRCm39) H15R probably damaging Het
Or2ak4 G T 11: 58,649,196 (GRCm39) S235I possibly damaging Het
Or52h7 A T 7: 104,214,333 (GRCm39) K302* probably null Het
Pde4b T G 4: 102,448,019 (GRCm39) probably benign Het
Pgrmc2 A G 3: 41,037,068 (GRCm39) V121A probably damaging Het
Ptges3 T C 10: 127,911,927 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,314,064 (GRCm39) S1595P probably benign Het
Rhbdf2 A G 11: 116,491,261 (GRCm39) F625L possibly damaging Het
Rhpn1 T C 15: 75,582,905 (GRCm39) S281P possibly damaging Het
Samd3 G T 10: 26,109,455 (GRCm39) G128W probably damaging Het
Septin5 T C 16: 18,443,629 (GRCm39) K51E probably damaging Het
Serpina7 G A X: 137,982,062 (GRCm39) T185I probably damaging Het
Slc25a25 A G 2: 32,307,452 (GRCm39) V303A probably damaging Het
Slc5a4b A T 10: 75,896,297 (GRCm39) probably benign Het
Srpk3 A T X: 72,818,754 (GRCm39) H114L probably benign Het
Sybu T G 15: 44,536,862 (GRCm39) Q360P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Wdsub1 G T 2: 59,689,080 (GRCm39) R381S probably damaging Het
Wscd1 G A 11: 71,679,801 (GRCm39) R558H probably damaging Het
Other mutations in Apoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Apoc3 APN 9 46,145,772 (GRCm39) missense possibly damaging 0.95
R4767:Apoc3 UTSW 9 46,145,833 (GRCm39) nonsense probably null
R8104:Apoc3 UTSW 9 46,144,585 (GRCm39) missense probably damaging 0.99
R9050:Apoc3 UTSW 9 46,144,592 (GRCm39) missense probably benign 0.02
R9072:Apoc3 UTSW 9 46,144,532 (GRCm39) missense probably benign 0.01
R9073:Apoc3 UTSW 9 46,144,532 (GRCm39) missense probably benign 0.01
R9130:Apoc3 UTSW 9 46,146,481 (GRCm39) missense unknown
R9741:Apoc3 UTSW 9 46,145,998 (GRCm39) missense unknown
Posted On 2015-04-16