Incidental Mutation 'R6460:Apof'
ID 517581
Institutional Source Beutler Lab
Gene Symbol Apof
Ensembl Gene ENSMUSG00000047631
Gene Name apolipoprotein F
Synonyms
MMRRC Submission 044595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6460 (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 A at 128105086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 80 (M80K)
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: M80K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050300
Gene: ENSMUSG00000047631
AA Change: M80K

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,862 (GRCm39) H1528L probably benign Het
Ablim1 A G 19: 57,068,271 (GRCm39) S263P possibly damaging Het
Ahnak2 T C 12: 112,750,610 (GRCm39) E104G probably null Het
Arfgef1 C T 1: 10,283,285 (GRCm39) R208H probably damaging Het
Arhgef33 A G 17: 80,657,018 (GRCm39) probably null Het
Atxn2l CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 7: 126,093,420 (GRCm39) probably benign Het
Cabcoco1 T C 10: 68,352,211 (GRCm39) K34E probably damaging Het
Col4a4 C A 1: 82,444,253 (GRCm39) G1338V unknown Het
Coq9 T A 8: 95,579,814 (GRCm39) D256E probably damaging Het
Dnajc18 A T 18: 35,833,963 (GRCm39) C41S probably benign Het
Dnajc6 A G 4: 101,472,795 (GRCm39) I307M probably damaging Het
Emg1 A G 6: 124,688,870 (GRCm39) V46A probably damaging Het
Eya3 A G 4: 132,408,174 (GRCm39) S157G probably damaging Het
Eya4 T C 10: 23,027,910 (GRCm39) N274S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 A G 9: 15,878,296 (GRCm39) V3395A probably damaging Het
Fchsd1 A T 18: 38,092,897 (GRCm39) probably null Het
Gm4846 A G 1: 166,325,082 (GRCm39) V3A probably benign Het
Hecw2 T A 1: 53,907,992 (GRCm39) probably null Het
Herc3 T A 6: 58,867,108 (GRCm39) I10N probably damaging Het
Hhatl C T 9: 121,618,588 (GRCm39) R138H probably benign Het
Hspa9 A T 18: 35,085,765 (GRCm39) H35Q probably benign Het
Irgq T A 7: 24,233,115 (GRCm39) S319T probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ksr2 T A 5: 117,894,449 (GRCm39) probably null Het
Lrriq1 T C 10: 103,036,559 (GRCm39) I865V probably damaging Het
Map2k1 A G 9: 64,094,577 (GRCm39) L355P probably damaging Het
Muc16 A G 9: 18,551,812 (GRCm39) I4827T probably benign Het
Myh1 T C 11: 67,112,202 (GRCm39) V1752A probably benign Het
Nfatc2ip A G 7: 125,986,909 (GRCm39) V282A probably damaging Het
Nrg1 T A 8: 32,308,561 (GRCm39) E485V probably damaging Het
Ofcc1 T C 13: 40,441,455 (GRCm39) D2G probably damaging Het
Or10d3 CAGAG CAG 9: 39,462,088 (GRCm39) probably null Het
Pclo T C 5: 14,729,146 (GRCm39) probably benign Het
Pom121 T C 5: 135,420,537 (GRCm39) K295E unknown Het
Rb1 A C 14: 73,515,894 (GRCm39) I294R probably benign Het
Schip1 C A 3: 68,402,227 (GRCm39) S101R probably benign Het
Sec24c T A 14: 20,740,868 (GRCm39) Y629N probably damaging Het
Shkbp1 T A 7: 27,049,963 (GRCm39) H305L probably benign Het
Spag9 T C 11: 93,959,801 (GRCm39) I187T probably damaging Het
Srp72 C A 5: 77,135,838 (GRCm39) T256K probably damaging Het
Stk32c T A 7: 138,685,190 (GRCm39) N320I probably damaging Het
Stxbp4 A T 11: 90,497,811 (GRCm39) S163T probably benign Het
Sycp1 T G 3: 102,832,569 (GRCm39) Y199S probably damaging Het
Tpk1 T C 6: 43,445,961 (GRCm39) D159G probably benign Het
Trav21-dv12 C T 14: 54,114,191 (GRCm39) H104Y probably benign Het
Trip4 A T 9: 65,788,302 (GRCm39) Y48N probably damaging Het
Trmt10b A G 4: 45,314,322 (GRCm39) T255A possibly damaging Het
Ttn G A 2: 76,747,232 (GRCm39) Q4606* probably null Het
Vcan T A 13: 89,838,806 (GRCm39) K2246M possibly damaging Het
Zfp438 C A 18: 5,213,603 (GRCm39) G452C probably damaging Het
Zfp54 T A 17: 21,654,004 (GRCm39) I166N probably benign Het
Zfp735 T C 11: 73,602,478 (GRCm39) V474A probably benign Het
Zfp831 G T 2: 174,488,360 (GRCm39) G1012W 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
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
Predicted Primers PCR Primer
(F):5'- ATAGCCTCCGACTCATCCTGATG -3'
(R):5'- AGGGCATCCACAGACACTTC -3'

Sequencing Primer
(F):5'- GACTCATCCTGATGTCAATCCAG -3'
(R):5'- ACAGACACTTCCCGGTCTGTG -3'
Posted On 2018-05-21