Incidental Mutation 'IGL00090:Apoh'
ID 1110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apoh
Ensembl Gene ENSMUSG00000000049
Gene Name apolipoprotein H
Synonyms beta-2-GPI, beta-2-glycoprotein 1, B2GPI
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.424) question?
Stock # IGL00090
Quality Score
Status
Chromosome 11
Chromosomal Location 108343354-108414396 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108395834 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 28 (D28G)
Ref Sequence ENSEMBL: ENSMUSP00000115516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000133383] [ENSMUST00000146050] [ENSMUST00000152958]
AlphaFold Q01339
Predicted Effect probably benign
Transcript: ENSMUST00000000049
AA Change: D28G

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: D28G

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: ENSMUST00000133383
AA Change: D28G

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049
AA Change: D28G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sushi 23 51 6.7e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146050
AA Change: D28G

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000152958
AA Change: D28G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: D28G

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T G 10: 82,283,752 M4475L probably benign Het
Abcb5 T C 12: 118,890,610 T857A probably benign Het
Abcc9 A T 6: 142,633,190 probably benign Het
Adam11 A G 11: 102,776,831 T709A probably benign Het
Adgre1 A G 17: 57,450,055 I771V probably benign Het
Adgrv1 T G 13: 81,405,408 probably null Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Adra1d G T 2: 131,561,677 D164E possibly damaging Het
Ago3 A G 4: 126,371,541 L319P probably damaging Het
Aim2 A G 1: 173,455,465 S38G probably benign Het
Atm C T 9: 53,524,443 R189K probably damaging Het
Bbs1 T C 19: 4,893,010 T451A probably benign Het
BC034090 T C 1: 155,225,447 D719G possibly damaging Het
Bcr T C 10: 75,157,071 probably benign Het
Bmp2 A T 2: 133,561,027 Q166L probably benign Het
Bms1 A T 6: 118,404,583 S665T probably benign Het
Ccser1 A T 6: 62,380,142 T855S possibly damaging Het
Cfap36 C T 11: 29,222,875 V217M probably benign Het
Clca3b T C 3: 144,836,632 N470D probably damaging Het
Cort A G 4: 149,125,295 F100S probably damaging Het
Cyp4f14 G T 17: 32,914,566 D105E probably benign Het
Dnah1 A G 14: 31,287,873 S1913P probably benign Het
Fam91a1 A T 15: 58,430,735 H308L probably damaging Het
Fbn1 A C 2: 125,324,947 I2016M probably damaging Het
Fibcd1 T A 2: 31,833,874 Q251L possibly damaging Het
Flg2 T A 3: 93,202,109 Y481* probably null Het
Ly9 A T 1: 171,593,451 I624N probably damaging Het
Mapt C T 11: 104,322,485 S301L probably damaging Het
Meiob G A 17: 24,823,629 V144I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo5a T A 9: 75,161,497 C660* probably null Het
Necab3 G T 2: 154,547,568 probably benign Het
Nr2c2ap A G 8: 70,132,629 Y93C probably damaging Het
Nxpe5 A G 5: 138,248,834 D356G probably benign Het
Olfr1331 T A 4: 118,869,287 Y168N probably damaging Het
Olfr225 A T 11: 59,613,321 Y119F possibly damaging Het
Plce1 A G 19: 38,745,788 Q1544R probably damaging Het
Plppr4 T A 3: 117,322,220 T605S probably benign Het
Poglut1 C A 16: 38,542,916 W167L possibly damaging Het
Pou2f1 G T 1: 165,902,298 R162S probably damaging Het
Ptprf A G 4: 118,223,220 probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Rexo2 A G 9: 48,474,447 S126P probably damaging Het
Robo4 A G 9: 37,411,104 S844G probably damaging Het
Scn7a A G 2: 66,683,327 probably benign Het
Sdc1 A G 12: 8,790,459 T75A possibly damaging Het
Slc38a4 C T 15: 97,019,809 E12K probably benign Het
Tbck T C 3: 132,743,093 probably null Het
Tex2 A T 11: 106,568,535 V23E probably damaging Het
Zfp770 A G 2: 114,195,932 V552A probably benign Het
Zfyve26 T C 12: 79,249,460 probably benign Het
Other mutations in Apoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02646:Apoh APN 11 108412142 missense probably benign 0.15
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
R8557:Apoh UTSW 11 108409236 missense probably damaging 0.99
R9310:Apoh UTSW 11 108407481 critical splice donor site probably null
R9671:Apoh UTSW 11 108395966 nonsense probably null
X0065:Apoh UTSW 11 108395350 missense probably damaging 1.00
Z1176:Apoh UTSW 11 108343459 start gained probably benign
Posted On 2011-07-12