Incidental Mutation 'IGL02646:Apoh'
ID301946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apoh
Ensembl Gene ENSMUSG00000000049
Gene Nameapolipoprotein H
Synonymsbeta-2-GPI, beta-2-glycoprotein 1, B2GPI
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.430) question?
Stock #IGL02646
Quality Score
Status
Chromosome11
Chromosomal Location108343354-108414396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108412142 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 311 (V311A)
Ref Sequence ENSEMBL: ENSMUSP00000000049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000152958]
Predicted Effect probably benign
Transcript: ENSMUST00000000049
AA Change: V311A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: V311A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CCP 23 79 1.35e-7 SMART
CCP 84 137 2.53e-12 SMART
CCP 142 200 4.92e-10 SMART
CCP 205 260 1.98e-14 SMART
CCP 264 325 2.51e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152958
SMART Domains Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CCP 23 79 1.35e-7 SMART
CCP 84 137 2.53e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Fank1 C T 7: 133,880,029 probably benign Het
Hoxb7 A T 11: 96,286,744 Y6F possibly damaging Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Sec22b T A 3: 97,921,245 V208E possibly damaging Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Snx33 A G 9: 56,926,759 Y9H probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Usp21 T C 1: 171,283,095 probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Zp2 T C 7: 120,135,341 D495G possibly damaging Het
Other mutations in Apoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Apoh APN 11 108395834 missense probably benign 0.45
IGL01327:Apoh APN 11 108397361 missense probably damaging 1.00
IGL01353:Apoh APN 11 108397385 missense probably damaging 1.00
IGL01464:Apoh APN 11 108395890 missense probably damaging 1.00
IGL02065:Apoh APN 11 108414305 utr 3 prime probably benign
R0125:Apoh UTSW 11 108412073 missense probably damaging 1.00
R0359:Apoh UTSW 11 108397373 missense probably damaging 1.00
R1969:Apoh UTSW 11 108407462 missense probably benign 0.00
R2280:Apoh UTSW 11 108409180 nonsense probably null
R2568:Apoh UTSW 11 108404871 missense probably benign 0.00
R4369:Apoh UTSW 11 108397379 missense probably damaging 1.00
R4789:Apoh UTSW 11 108409238 missense probably damaging 1.00
R4824:Apoh UTSW 11 108414261 missense probably benign 0.37
R4937:Apoh UTSW 11 108407378 missense probably benign 0.19
R5634:Apoh UTSW 11 108412049 missense probably damaging 1.00
R5900:Apoh UTSW 11 108412017 missense probably damaging 0.99
R5951:Apoh UTSW 11 108395903 missense probably damaging 1.00
R6054:Apoh UTSW 11 108395975 missense probably damaging 1.00
R6126:Apoh UTSW 11 108397373 missense probably damaging 1.00
R7343:Apoh UTSW 11 108395848 missense probably benign 0.14
R7471:Apoh UTSW 11 108407305 missense probably damaging 1.00
X0065:Apoh UTSW 11 108395350 missense probably damaging 1.00
Z1176:Apoh UTSW 11 108343459 start gained probably benign
Posted On2015-04-16