Incidental Mutation 'IGL01779:Apof'
ID 153893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apof
Ensembl Gene ENSMUSG00000047631
Gene Name apolipoprotein F
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01779
Quality Score
Status
Chromosome 10
Chromosomal Location 128268671-128270153 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128269477 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 167 (I167V)
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: I167V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000050300
Gene: ENSMUSG00000047631
AA Change: I167V

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Apof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Apof APN 10 128269484 splice site probably null
IGL03113:Apof APN 10 128269699 missense probably benign 0.21
R1725:Apof UTSW 10 128269811 unclassified probably benign
R5104:Apof UTSW 10 128269618 nonsense probably null
R6460:Apof UTSW 10 128269217 missense probably damaging 1.00
R7464:Apof UTSW 10 128269636 missense probably benign 0.21
R7483:Apof UTSW 10 128268767 missense probably benign
R7672:Apof UTSW 10 128269016 missense probably benign 0.43
R8442:Apof UTSW 10 128269022 missense probably damaging 1.00
R8956:Apof UTSW 10 128269843 missense probably benign 0.00
Posted On 2014-02-04