Incidental Mutation 'IGL00234:Apoc4'
ID 2360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apoc4
Ensembl Gene ENSMUSG00000074336
Gene Name apolipoprotein C-IV
Synonyms Acl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00234
Quality Score
Status
Chromosome 7
Chromosomal Location 19412009-19415385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19412665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 27 (S27T)
Ref Sequence ENSEMBL: ENSMUSP00000003071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003071] [ENSMUST00000003074] [ENSMUST00000127648] [ENSMUST00000134116] [ENSMUST00000142352] [ENSMUST00000150569]
AlphaFold Q61268
Predicted Effect probably benign
Transcript: ENSMUST00000003071
AA Change: S27T

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003071
Gene: ENSMUSG00000074336
AA Change: S27T

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:APOC4 28 121 9.6e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000003074
SMART Domains Protein: ENSMUSP00000003074
Gene: ENSMUSG00000002992

DomainStartEndE-ValueType
Pfam:Apo-CII 20 97 4.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127648
SMART Domains Protein: ENSMUSP00000118305
Gene: ENSMUSG00000109350

DomainStartEndE-ValueType
Pfam:Apo-CII 20 68 2.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134116
SMART Domains Protein: ENSMUSP00000118291
Gene: ENSMUSG00000002992

DomainStartEndE-ValueType
Pfam:Apo-CII 20 97 4.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142352
SMART Domains Protein: ENSMUSP00000115173
Gene: ENSMUSG00000002992

DomainStartEndE-ValueType
Pfam:Apo-CII 21 97 1.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150569
SMART Domains Protein: ENSMUSP00000114512
Gene: ENSMUSG00000109350

DomainStartEndE-ValueType
Pfam:Apo-CII 20 97 4.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209130
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 lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Atp13a3 T A 16: 30,170,097 (GRCm39) Q363L probably damaging Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Maml3 A G 3: 51,598,125 (GRCm39) I207T probably benign Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Nubp1 G A 16: 10,240,703 (GRCm39) G280S probably damaging Het
Or4d2 T G 11: 87,784,191 (GRCm39) R186S possibly damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Psmd7 A G 8: 108,312,342 (GRCm39) V85A probably damaging Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Yars2 T C 16: 16,121,185 (GRCm39) L113P probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Apoc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01696:Apoc4 APN 7 19,412,109 (GRCm39) missense probably damaging 1.00
R2004:Apoc4 UTSW 7 19,415,304 (GRCm39) start codon destroyed probably null 0.53
R2150:Apoc4 UTSW 7 19,412,560 (GRCm39) missense probably damaging 1.00
R7598:Apoc4 UTSW 7 19,415,265 (GRCm39) missense probably benign 0.00
R9181:Apoc4 UTSW 7 19,412,665 (GRCm39) missense possibly damaging 0.72
Posted On 2011-12-09