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 B2GPI, beta-2-glycoprotein 1, beta-2-GPI
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # IGL00090
Quality Score
Status
Chromosome 11
Chromosomal Location 108286123-108305222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108286660 bp (GRCm39)
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
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Apoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Apoh APN 11 108,288,187 (GRCm39) missense probably damaging 1.00
IGL01353:Apoh APN 11 108,288,211 (GRCm39) missense probably damaging 1.00
IGL01464:Apoh APN 11 108,286,716 (GRCm39) missense probably damaging 1.00
IGL02065:Apoh APN 11 108,305,131 (GRCm39) utr 3 prime probably benign
IGL02646:Apoh APN 11 108,302,968 (GRCm39) missense probably benign 0.15
R0125:Apoh UTSW 11 108,302,899 (GRCm39) missense probably damaging 1.00
R0359:Apoh UTSW 11 108,288,199 (GRCm39) missense probably damaging 1.00
R1969:Apoh UTSW 11 108,298,288 (GRCm39) missense probably benign 0.00
R2280:Apoh UTSW 11 108,300,006 (GRCm39) nonsense probably null
R2568:Apoh UTSW 11 108,295,697 (GRCm39) missense probably benign 0.00
R4369:Apoh UTSW 11 108,288,205 (GRCm39) missense probably damaging 1.00
R4789:Apoh UTSW 11 108,300,064 (GRCm39) missense probably damaging 1.00
R4824:Apoh UTSW 11 108,305,087 (GRCm39) missense probably benign 0.37
R4937:Apoh UTSW 11 108,298,204 (GRCm39) missense probably benign 0.19
R5634:Apoh UTSW 11 108,302,875 (GRCm39) missense probably damaging 1.00
R5900:Apoh UTSW 11 108,302,843 (GRCm39) missense probably damaging 0.99
R5951:Apoh UTSW 11 108,286,729 (GRCm39) missense probably damaging 1.00
R6054:Apoh UTSW 11 108,286,801 (GRCm39) missense probably damaging 1.00
R6126:Apoh UTSW 11 108,288,199 (GRCm39) missense probably damaging 1.00
R7343:Apoh UTSW 11 108,286,674 (GRCm39) missense probably benign 0.14
R7471:Apoh UTSW 11 108,298,131 (GRCm39) missense probably damaging 1.00
R8557:Apoh UTSW 11 108,300,062 (GRCm39) missense probably damaging 0.99
R9310:Apoh UTSW 11 108,298,307 (GRCm39) critical splice donor site probably null
R9671:Apoh UTSW 11 108,286,792 (GRCm39) nonsense probably null
X0065:Apoh UTSW 11 108,286,176 (GRCm39) missense probably damaging 1.00
Z1176:Apoh UTSW 11 108,234,285 (GRCm39) start gained probably benign
Posted On 2011-07-12