Incidental Mutation 'IGL03113:Apof'
ID 419287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apof
Ensembl Gene ENSMUSG00000047631
Gene Name apolipoprotein F
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03113
Quality Score
Status
Chromosome 10
Chromosomal Location 128103866-128106022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128105568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 241 (V241M)
Ref Sequence ENSEMBL: ENSMUSP00000050300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050901] [ENSMUST00000085708] [ENSMUST00000105238]
AlphaFold Q91V80
Predicted Effect probably benign
Transcript: ENSMUST00000050901
AA Change: V241M

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050300
Gene: ENSMUSG00000047631
AA Change: V241M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218863
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 T A 8: 15,004,505 (GRCm39) I91N probably damaging Het
Arhgef17 G A 7: 100,578,938 (GRCm39) T670I probably benign Het
Barhl1 T C 2: 28,805,468 (GRCm39) D75G probably benign Het
Capn13 T C 17: 73,638,108 (GRCm39) T432A probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc175 C A 12: 72,191,557 (GRCm39) V340L probably benign Het
Cdc5l A T 17: 45,744,348 (GRCm39) M5K possibly damaging Het
Cgn A G 3: 94,686,544 (GRCm39) F253L probably benign Het
Csmd1 T C 8: 16,078,712 (GRCm39) K2003R probably benign Het
Disp2 T A 2: 118,621,259 (GRCm39) probably null Het
Dnah7a T C 1: 53,472,163 (GRCm39) N3535D possibly damaging Het
Exoc3 G A 13: 74,341,232 (GRCm39) Q191* probably null Het
Fstl5 T A 3: 76,337,099 (GRCm39) Y219* probably null Het
Gad2 T A 2: 22,571,367 (GRCm39) L435Q probably benign Het
Gcnt3 A G 9: 69,941,983 (GRCm39) V195A probably damaging Het
Haus6 G A 4: 86,501,343 (GRCm39) Q843* probably null Het
Hivep2 T A 10: 14,006,395 (GRCm39) F998I probably damaging Het
Hsf5 A T 11: 87,548,190 (GRCm39) E624D probably benign Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klhl6 T A 16: 19,776,001 (GRCm39) S186C possibly damaging Het
Klk15 T C 7: 43,587,805 (GRCm39) F78L probably benign Het
Ldlr A G 9: 21,651,124 (GRCm39) E514G possibly damaging Het
Map9 T A 3: 82,267,285 (GRCm39) probably benign Het
Miga2 A T 2: 30,274,022 (GRCm39) I99F possibly damaging Het
Morc4 T C X: 138,758,605 (GRCm39) E189G probably benign Het
Nhlrc3 A T 3: 53,365,984 (GRCm39) Y170N possibly damaging Het
Or3a1b G A 11: 74,012,529 (GRCm39) R138Q probably benign Het
Or4c111 A G 2: 88,844,379 (GRCm39) F10L probably damaging Het
Or51b6b A T 7: 103,309,851 (GRCm39) V202D possibly damaging Het
Or52u1 A T 7: 104,237,940 (GRCm39) R310W probably benign Het
Or5o1 T A X: 48,815,939 (GRCm39) N291Y probably damaging Het
Or5w15 T C 2: 87,568,506 (GRCm39) Q54R probably benign Het
Or8g32 A C 9: 39,305,981 (GRCm39) K295T probably damaging Het
Pkd1l1 G A 11: 8,784,793 (GRCm39) T1997I probably benign Het
Poln A G 5: 34,274,206 (GRCm39) S377P probably benign Het
Rab22a T A 2: 173,503,265 (GRCm39) V26E probably damaging Het
Rhbdl3 T C 11: 80,244,439 (GRCm39) V382A possibly damaging Het
Slitrk3 G T 3: 72,957,723 (GRCm39) Q350K probably benign Het
Sult1d1 A T 5: 87,707,738 (GRCm39) Y127* probably null Het
Vmn1r73 A T 7: 11,490,527 (GRCm39) Y115F probably benign Het
Zfp128 T A 7: 12,624,314 (GRCm39) D227E probably benign 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
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
R8442:Apof UTSW 10 128,104,891 (GRCm39) missense probably damaging 1.00
R8956:Apof UTSW 10 128,105,712 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02