Incidental Mutation 'IGL02321:Apoa4'
ID288253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apoa4
Ensembl Gene ENSMUSG00000032080
Gene Nameapolipoprotein A-IV
SynonymsApoa-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL02321
Quality Score
Status
Chromosome9
Chromosomal Location46240696-46243459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46242920 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 273 (D273G)
Ref Sequence ENSEMBL: ENSMUSP00000034585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034585]
Predicted Effect probably damaging
Transcript: ENSMUST00000034585
AA Change: D273G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034585
Gene: ENSMUSG00000032080
AA Change: D273G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215445
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,216,572 E1476G probably benign Het
Acsf3 C T 8: 122,780,114 R49C possibly damaging Het
Alg2 T C 4: 47,474,249 Y13C probably benign Het
Axl C T 7: 25,758,769 V854I probably damaging Het
BC117090 A G 16: 36,323,026 probably benign Het
Bicral A G 17: 46,811,947 S673P probably benign Het
C87499 A G 4: 88,630,103 S22P probably benign Het
Camkk2 A G 5: 122,764,127 S40P probably damaging Het
Ccdc39 A G 3: 33,816,958 probably benign Het
Ccdc87 A G 19: 4,841,031 E517G probably damaging Het
Cd22 A G 7: 30,869,883 S603P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chml G A 1: 175,692,334 P68L possibly damaging Het
Ephb3 T C 16: 21,214,389 V41A probably damaging Het
Gm4781 T A 10: 100,396,890 noncoding transcript Het
Hip1r A T 5: 123,999,890 I760F probably damaging Het
Hyal5 T C 6: 24,891,615 L476P probably benign Het
Isyna1 A G 8: 70,596,270 N333S probably damaging Het
Kcnmb1 A T 11: 33,970,091 probably benign Het
Mark4 T C 7: 19,426,389 T649A probably benign Het
Mgat1 T C 11: 49,261,709 F340L probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mmaa T G 8: 79,274,130 Y233S probably damaging Het
Ntsr1 G T 2: 180,538,834 probably null Het
Olfr1394 T G 11: 49,160,775 Y254D probably damaging Het
Orm2 T C 4: 63,362,992 Y56H probably damaging Het
Pex26 C T 6: 121,193,509 probably benign Het
Pik3r4 C T 9: 105,644,478 A81V probably benign Het
Prr14l G T 5: 32,827,807 T1448K probably benign Het
Ralgapa2 A T 2: 146,412,816 Y799* probably null Het
Ryr1 A C 7: 29,078,696 L2132R probably damaging Het
Sec23b T C 2: 144,579,405 probably null Het
Sirt5 C T 13: 43,379,688 T164I probably damaging Het
Slc9c1 T C 16: 45,556,614 V429A probably benign Het
Spen T C 4: 141,517,130 D198G unknown Het
Syne2 A G 12: 75,918,999 N832D possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r191 T A 13: 22,178,898 R229* probably null Het
Vps53 C T 11: 76,048,538 D680N possibly damaging Het
Wbp1l G T 19: 46,654,310 G234V probably benign Het
Wdfy3 A T 5: 101,922,609 S1098T probably damaging Het
Yod1 T A 1: 130,718,951 D188E probably damaging Het
Zbtb25 T C 12: 76,350,133 D105G probably damaging Het
Other mutations in Apoa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Apoa4 APN 9 46242985 missense probably benign 0.30
R0001:Apoa4 UTSW 9 46242892 missense probably benign 0.03
R0054:Apoa4 UTSW 9 46242524 missense probably benign 0.00
R0054:Apoa4 UTSW 9 46242524 missense probably benign 0.00
R0401:Apoa4 UTSW 9 46243058 missense probably damaging 1.00
R1446:Apoa4 UTSW 9 46242293 missense probably benign 0.03
R2027:Apoa4 UTSW 9 46243000 missense probably damaging 1.00
R2332:Apoa4 UTSW 9 46242355 missense probably benign 0.00
R4979:Apoa4 UTSW 9 46241505 missense probably benign 0.01
R5120:Apoa4 UTSW 9 46242737 missense probably damaging 1.00
R5780:Apoa4 UTSW 9 46242592 missense possibly damaging 0.77
R6769:Apoa4 UTSW 9 46243167 missense probably benign 0.01
R6771:Apoa4 UTSW 9 46243167 missense probably benign 0.01
R7009:Apoa4 UTSW 9 46242880 missense possibly damaging 0.82
R7384:Apoa4 UTSW 9 46241474 missense not run
R7625:Apoa4 UTSW 9 46243112 missense probably damaging 0.99
R8039:Apoa4 UTSW 9 46242293 missense possibly damaging 0.70
Z1176:Apoa4 UTSW 9 46242589 missense possibly damaging 0.82
Posted On2015-04-16