Incidental Mutation 'R8442:Apof'
ID 654256
Institutional Source Beutler Lab
Gene Symbol Apof
Ensembl Gene ENSMUSG00000047631
Gene Name apolipoprotein F
Synonyms
MMRRC Submission 067779-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8442 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128103866-128106022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128104891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 15 (L15P)
Ref Sequence ENSEMBL: ENSMUSP00000050300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050901] [ENSMUST00000085708] [ENSMUST00000105238]
AlphaFold Q91V80
Predicted Effect probably damaging
Transcript: ENSMUST00000050901
AA Change: L15P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050300
Gene: ENSMUSG00000047631
AA Change: L15P

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:Apolipo_F 63 262 1.3e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085708
SMART Domains Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 138 314 5e-52 PFAM
Pfam:STAT_bind 316 564 1.2e-96 PFAM
SH2 576 652 4.71e-6 SMART
internal_repeat_1 750 778 6.35e-10 PROSPERO
internal_repeat_1 822 850 6.35e-10 PROSPERO
Pfam:STAT2_C 853 907 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105238
SMART Domains Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 141 314 2.6e-49 PFAM
Pfam:STAT_bind 316 564 1.5e-67 PFAM
SH2 577 653 4.71e-6 SMART
internal_repeat_1 751 779 6.69e-10 PROSPERO
internal_repeat_1 823 851 6.69e-10 PROSPERO
Pfam:STAT2_C 854 908 1.7e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired ABCG1-mediated cholesterol efflux. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC048671 T C 6: 90,282,095 (GRCm39) F84S probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C2cd4a C T 9: 67,739,039 (GRCm39) M1I probably null Het
Cd72 T A 4: 43,450,109 (GRCm39) K266N possibly damaging Het
Col12a1 A G 9: 79,542,781 (GRCm39) F2328S probably damaging Het
Cubn T C 2: 13,318,855 (GRCm39) Y2948C probably damaging Het
Dagla A G 19: 10,240,456 (GRCm39) probably null Het
Dagla A G 19: 10,248,883 (GRCm39) F24L probably damaging Het
Dnah14 A G 1: 181,568,849 (GRCm39) T2860A probably damaging Het
Efcab2 A T 1: 178,265,001 (GRCm39) K22N probably benign Het
Flt1 C T 5: 147,512,983 (GRCm39) R1118Q probably damaging Het
Foxl1 T A 8: 121,855,224 (GRCm39) L175Q possibly damaging Het
Gm572 G T 4: 148,743,450 (GRCm39) R140L possibly damaging Het
Gucy2g T C 19: 55,205,833 (GRCm39) R676G probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hspb8 T C 5: 116,560,504 (GRCm39) Y12C probably damaging Het
Igf2bp2 A C 16: 21,883,841 (GRCm39) probably null Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Il5 C T 11: 53,612,651 (GRCm39) P54S probably damaging Het
Kif18a T C 2: 109,125,318 (GRCm39) I245T possibly damaging Het
Kif2b T A 11: 91,467,140 (GRCm39) N381I possibly damaging Het
Lrrc49 A G 9: 60,500,908 (GRCm39) F679S probably benign Het
Med24 A G 11: 98,598,383 (GRCm39) F742L probably benign Het
Msh3 T C 13: 92,349,020 (GRCm39) T1071A probably benign Het
Neb T C 2: 52,177,220 (GRCm39) T1374A probably damaging Het
Or4d6 A T 19: 12,086,091 (GRCm39) I47N probably damaging Het
Or5p75-ps1 A C 7: 108,107,851 (GRCm39) Q196P unknown Het
P3h2 A G 16: 25,805,955 (GRCm39) I296T probably benign Het
Pcdhb21 A T 18: 37,646,841 (GRCm39) probably benign Het
Prkab2 G T 3: 97,566,002 (GRCm39) G25C probably damaging Het
Ptprm C A 17: 67,251,312 (GRCm39) A522S possibly damaging Het
Scarf2 A G 16: 17,624,231 (GRCm39) D512G probably benign Het
Sema3d A G 5: 12,592,608 (GRCm39) T346A probably damaging Het
Septin7 T C 9: 25,163,938 (GRCm39) S2P unknown Het
Sfrp5 A G 19: 42,187,236 (GRCm39) V278A probably benign Het
Taar1 T A 10: 23,796,522 (GRCm39) C73* probably null Het
Tek T A 4: 94,715,922 (GRCm39) L448Q probably benign Het
Tmem132a A C 19: 10,835,833 (GRCm39) L899R probably damaging Het
Txndc5 T C 13: 38,711,845 (GRCm39) probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Uggt1 A G 1: 36,212,568 (GRCm39) S925P probably damaging Het
Unc13d A T 11: 115,958,657 (GRCm39) D786E probably damaging Het
Vmn1r26 T C 6: 57,985,728 (GRCm39) T154A possibly damaging Het
Other mutations in Apof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01779:Apof APN 10 128,105,346 (GRCm39) missense probably benign 0.00
IGL02403:Apof APN 10 128,105,353 (GRCm39) splice site probably null
IGL03113:Apof APN 10 128,105,568 (GRCm39) missense probably benign 0.21
R1725:Apof UTSW 10 128,105,680 (GRCm39) unclassified probably benign
R5104:Apof UTSW 10 128,105,487 (GRCm39) nonsense probably null
R6460:Apof UTSW 10 128,105,086 (GRCm39) missense probably damaging 1.00
R7464:Apof UTSW 10 128,105,505 (GRCm39) missense probably benign 0.21
R7483:Apof UTSW 10 128,104,636 (GRCm39) missense probably benign
R7672:Apof UTSW 10 128,104,885 (GRCm39) missense probably benign 0.43
R8956:Apof UTSW 10 128,105,712 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAAATTGTGCTGCACTTCCC -3'
(R):5'- CAGGCCTACCAGGAATTTGG -3'

Sequencing Primer
(F):5'- GAAATTGTGCTGCACTTCCCATATC -3'
(R):5'- CCTACCAGGAATTTGGAGACAG -3'
Posted On 2020-10-20