Incidental Mutation 'R6769:Apoa4'
ID 532091
Institutional Source Beutler Lab
Gene Symbol Apoa4
Ensembl Gene ENSMUSG00000032080
Gene Name apolipoprotein A-IV
Synonyms Apoa-4
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R6769 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 46152142-46154756 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46154465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 355 (M355I)
Ref Sequence ENSEMBL: ENSMUSP00000034585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034585]
AlphaFold P06728
Predicted Effect probably benign
Transcript: ENSMUST00000034585
AA Change: M355I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034585
Gene: ENSMUSG00000032080
AA Change: M355I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apolipoprotein 61 213 1.1e-33 PFAM
Pfam:Apolipoprotein 182 338 9.1e-29 PFAM
Pfam:Apolipoprotein 298 390 7.4e-6 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene have lower HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Mnat1 A G 12: 73,319,196 (GRCm39) N273S probably benign Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T probably damaging Het
Other mutations in Apoa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Apoa4 APN 9 46,154,283 (GRCm39) missense probably benign 0.30
IGL02321:Apoa4 APN 9 46,154,218 (GRCm39) missense probably damaging 0.98
R0001:Apoa4 UTSW 9 46,154,190 (GRCm39) missense probably benign 0.03
R0054:Apoa4 UTSW 9 46,153,822 (GRCm39) missense probably benign 0.00
R0054:Apoa4 UTSW 9 46,153,822 (GRCm39) missense probably benign 0.00
R0401:Apoa4 UTSW 9 46,154,356 (GRCm39) missense probably damaging 1.00
R1446:Apoa4 UTSW 9 46,153,591 (GRCm39) missense probably benign 0.03
R2027:Apoa4 UTSW 9 46,154,298 (GRCm39) missense probably damaging 1.00
R2332:Apoa4 UTSW 9 46,153,653 (GRCm39) missense probably benign 0.00
R4979:Apoa4 UTSW 9 46,152,803 (GRCm39) missense probably benign 0.01
R5120:Apoa4 UTSW 9 46,154,035 (GRCm39) missense probably damaging 1.00
R5780:Apoa4 UTSW 9 46,153,890 (GRCm39) missense possibly damaging 0.77
R6771:Apoa4 UTSW 9 46,154,465 (GRCm39) missense probably benign 0.01
R7009:Apoa4 UTSW 9 46,154,178 (GRCm39) missense possibly damaging 0.82
R7384:Apoa4 UTSW 9 46,152,772 (GRCm39) missense not run
R7625:Apoa4 UTSW 9 46,154,410 (GRCm39) missense probably damaging 0.99
R8039:Apoa4 UTSW 9 46,153,591 (GRCm39) missense possibly damaging 0.70
R8305:Apoa4 UTSW 9 46,152,453 (GRCm39) start codon destroyed probably null 1.00
R8851:Apoa4 UTSW 9 46,153,906 (GRCm39) missense probably benign 0.00
R9032:Apoa4 UTSW 9 46,154,275 (GRCm39) missense probably damaging 1.00
R9485:Apoa4 UTSW 9 46,152,453 (GRCm39) start codon destroyed probably null 1.00
Z1176:Apoa4 UTSW 9 46,153,887 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AATCGACCAGCTGCAGAAG -3'
(R):5'- TACAAGAAGTGCCTGGGGAC -3'

Sequencing Primer
(F):5'- AGAAGAATCTGGCCCCGCTG -3'
(R):5'- CAGACAGGTGGTGGGGC -3'
Posted On 2018-08-29