Incidental Mutation 'IGL01327:Apoh'
ID 74303
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
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # IGL01327
Quality Score
Chromosome 11
Chromosomal Location 108343354-108414396 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 108397361 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 102 (Y102D)
Ref Sequence ENSEMBL: ENSMUSP00000114214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000133383] [ENSMUST00000146050] [ENSMUST00000152958]
AlphaFold Q01339
Predicted Effect probably damaging
Transcript: ENSMUST00000000049
AA Change: Y102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000049
Gene: ENSMUSG00000000049
AA Change: Y102D

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
SMART Domains Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049

signal peptide 1 19 N/A INTRINSIC
Pfam:Sushi 23 51 6.7e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146050
Predicted Effect probably damaging
Transcript: ENSMUST00000152958
AA Change: Y102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114214
Gene: ENSMUSG00000000049
AA Change: Y102D

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 147,945,064 (GRCm38) V497E probably damaging Het
4930563D23Rik T C 16: 92,320,773 (GRCm38) Y209C probably benign Het
Adcy7 T G 8: 88,318,790 (GRCm38) probably benign Het
Aldh1a2 T A 9: 71,285,966 (GRCm38) F486I possibly damaging Het
Alox12 T A 11: 70,254,549 (GRCm38) H66L probably benign Het
Arl9 T C 5: 77,006,554 (GRCm38) V43A possibly damaging Het
Atf6 A G 1: 170,788,606 (GRCm38) probably null Het
Atp4a T A 7: 30,713,250 (GRCm38) I127N possibly damaging Het
AY358078 T A 14: 51,805,709 (GRCm38) probably benign Het
Baat T G 4: 49,490,338 (GRCm38) K249Q probably damaging Het
Brat1 C T 5: 140,718,208 (GRCm38) Q739* probably null Het
C8g A G 2: 25,499,077 (GRCm38) F165L probably damaging Het
Cel T G 2: 28,557,955 (GRCm38) D353A possibly damaging Het
Col6a1 G T 10: 76,710,979 (GRCm38) T803K unknown Het
Cpxm1 A G 2: 130,396,357 (GRCm38) L95P probably benign Het
Ctsr A G 13: 61,162,675 (GRCm38) probably benign Het
Cyth1 A G 11: 118,193,613 (GRCm38) probably null Het
Dync1h1 A T 12: 110,616,692 (GRCm38) probably benign Het
Ezh1 C T 11: 101,203,436 (GRCm38) C407Y probably damaging Het
Gm3696 A T 14: 7,090,701 (GRCm38) W38R probably benign Het
Gm9611 T C 14: 42,294,665 (GRCm38) T39A possibly damaging Het
Gnpat T A 8: 124,878,633 (GRCm38) L287H probably damaging Het
Golm1 G T 13: 59,645,144 (GRCm38) N182K possibly damaging Het
Hdac6 T C X: 7,931,774 (GRCm38) M899V probably benign Het
Hsf3 T A X: 96,314,972 (GRCm38) M272L probably benign Het
Kif19a C T 11: 114,781,799 (GRCm38) probably benign Het
Lcn2 T G 2: 32,386,018 (GRCm38) Y100S possibly damaging Het
Lrrc8d T A 5: 105,812,265 (GRCm38) S180R probably damaging Het
Ly6h A G 15: 75,565,099 (GRCm38) probably benign Het
Macf1 T C 4: 123,509,912 (GRCm38) N705D probably benign Het
Mst1r C T 9: 107,907,844 (GRCm38) P234S probably benign Het
Msto1 T A 3: 88,910,632 (GRCm38) probably null Het
Myo5a T A 9: 75,187,538 (GRCm38) probably benign Het
Nipa1 T C 7: 55,979,661 (GRCm38) I235V probably benign Het
Nlgn3 T C X: 101,318,622 (GRCm38) V399A probably benign Het
Olfr1367 A G 13: 21,347,207 (GRCm38) N93S probably benign Het
Olfr412 T A 11: 74,364,912 (GRCm38) M81K possibly damaging Het
Pih1d1 T C 7: 45,159,975 (GRCm38) S289P probably benign Het
Ppl T C 16: 5,087,644 (GRCm38) N1596D probably benign Het
Psmb6 T A 11: 70,526,586 (GRCm38) S114R possibly damaging Het
Pum1 C A 4: 130,730,543 (GRCm38) Q289K probably damaging Het
Shkbp1 T C 7: 27,355,251 (GRCm38) I75V probably benign Het
Slc24a3 T A 2: 145,602,558 (GRCm38) I284N probably benign Het
Slc44a3 C T 3: 121,527,193 (GRCm38) G53D probably damaging Het
Slc9a4 A C 1: 40,629,405 (GRCm38) D736A probably benign Het
Stra6 A G 9: 58,152,571 (GRCm38) D605G probably benign Het
Tas2r126 T A 6: 42,434,750 (GRCm38) H72Q probably benign Het
Tbrg1 C T 9: 37,653,112 (GRCm38) R166Q probably benign Het
Thumpd1 C T 7: 119,720,702 (GRCm38) G14R probably benign Het
Ticrr C T 7: 79,694,461 (GRCm38) T1358I probably benign Het
Tmtc2 A T 10: 105,348,479 (GRCm38) N518K probably benign Het
Trpm4 C A 7: 45,315,073 (GRCm38) W533C probably damaging Het
Tsen54 T C 11: 115,821,712 (GRCm38) Y119H possibly damaging Het
Tulp3 G A 6: 128,327,634 (GRCm38) T219M probably damaging Het
Usp19 T C 9: 108,498,961 (GRCm38) L1000S possibly damaging Het
Vps16 A T 2: 130,437,696 (GRCm38) Y43F probably benign Het
Vsig1 T A X: 140,937,680 (GRCm38) V283E possibly damaging Het
Other mutations in Apoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Apoh APN 11 108,395,834 (GRCm38) missense probably benign 0.45
IGL01353:Apoh APN 11 108,397,385 (GRCm38) missense probably damaging 1.00
IGL01464:Apoh APN 11 108,395,890 (GRCm38) missense probably damaging 1.00
IGL02065:Apoh APN 11 108,414,305 (GRCm38) utr 3 prime probably benign
IGL02646:Apoh APN 11 108,412,142 (GRCm38) missense probably benign 0.15
R0125:Apoh UTSW 11 108,412,073 (GRCm38) missense probably damaging 1.00
R0359:Apoh UTSW 11 108,397,373 (GRCm38) missense probably damaging 1.00
R1969:Apoh UTSW 11 108,407,462 (GRCm38) missense probably benign 0.00
R2280:Apoh UTSW 11 108,409,180 (GRCm38) nonsense probably null
R2568:Apoh UTSW 11 108,404,871 (GRCm38) missense probably benign 0.00
R4369:Apoh UTSW 11 108,397,379 (GRCm38) missense probably damaging 1.00
R4789:Apoh UTSW 11 108,409,238 (GRCm38) missense probably damaging 1.00
R4824:Apoh UTSW 11 108,414,261 (GRCm38) missense probably benign 0.37
R4937:Apoh UTSW 11 108,407,378 (GRCm38) missense probably benign 0.19
R5634:Apoh UTSW 11 108,412,049 (GRCm38) missense probably damaging 1.00
R5900:Apoh UTSW 11 108,412,017 (GRCm38) missense probably damaging 0.99
R5951:Apoh UTSW 11 108,395,903 (GRCm38) missense probably damaging 1.00
R6054:Apoh UTSW 11 108,395,975 (GRCm38) missense probably damaging 1.00
R6126:Apoh UTSW 11 108,397,373 (GRCm38) missense probably damaging 1.00
R7343:Apoh UTSW 11 108,395,848 (GRCm38) missense probably benign 0.14
R7471:Apoh UTSW 11 108,407,305 (GRCm38) missense probably damaging 1.00
R8557:Apoh UTSW 11 108,409,236 (GRCm38) missense probably damaging 0.99
R9310:Apoh UTSW 11 108,407,481 (GRCm38) critical splice donor site probably null
R9671:Apoh UTSW 11 108,395,966 (GRCm38) nonsense probably null
X0065:Apoh UTSW 11 108,395,350 (GRCm38) missense probably damaging 1.00
Z1176:Apoh UTSW 11 108,343,459 (GRCm38) start gained probably benign
Posted On 2013-10-07