Incidental Mutation 'IGL00497:Apol8'
ID 332231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol8
Ensembl Gene ENSMUSG00000056656
Gene Name apolipoprotein L 8
Synonyms 9830006J20Rik, Apol2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00497
Quality Score
Status
Chromosome 15
Chromosomal Location 77631998-77641203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77634214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 121 (T121A)
Ref Sequence ENSEMBL: ENSMUSP00000086873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070911] [ENSMUST00000089450] [ENSMUST00000229332] [ENSMUST00000229445]
AlphaFold A2VDH7
Predicted Effect probably damaging
Transcript: ENSMUST00000070911
AA Change: T121A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656
AA Change: T121A

DomainStartEndE-ValueType
Pfam:ApoL 26 333 2.5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089450
AA Change: T121A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086873
Gene: ENSMUSG00000056656
AA Change: T121A

DomainStartEndE-ValueType
Pfam:ApoL 1 307 9.4e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229332
Predicted Effect probably benign
Transcript: ENSMUST00000229445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230332
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik G A 3: 79,538,598 (GRCm39) probably benign Het
Aatk C T 11: 119,901,012 (GRCm39) R1128Q probably benign Het
Acot6 C T 12: 84,156,212 (GRCm39) R387C probably damaging Het
Adam11 A G 11: 102,660,973 (GRCm39) E118G probably damaging Het
Adcyap1r1 G A 6: 55,449,264 (GRCm39) V73I probably damaging Het
Bltp2 A G 11: 78,163,759 (GRCm39) N1076D probably damaging Het
Ccdc91 C A 6: 147,508,485 (GRCm39) Q404K unknown Het
Cpt1b T C 15: 89,306,496 (GRCm39) K294R probably benign Het
Dnah6 A C 6: 73,172,744 (GRCm39) V238G probably damaging Het
Dscaml1 T C 9: 45,663,536 (GRCm39) S1920P probably damaging Het
Gcfc2 A T 6: 81,934,951 (GRCm39) I737L probably benign Het
Gmeb1 A G 4: 131,955,296 (GRCm39) V293A probably benign Het
Gpi-ps T C 8: 5,690,563 (GRCm39) noncoding transcript Het
Hibch A G 1: 52,924,349 (GRCm39) probably benign Het
Ifnab A G 4: 88,609,419 (GRCm39) Y16H probably benign Het
Il17rc T C 6: 113,451,132 (GRCm39) V155A probably damaging Het
Lrr1 A G 12: 69,221,356 (GRCm39) H166R probably benign Het
Map4k5 G T 12: 69,892,506 (GRCm39) A141E probably damaging Het
Mettl17 A T 14: 52,126,292 (GRCm39) K233N probably damaging Het
Mon2 A G 10: 122,862,204 (GRCm39) L740S probably damaging Het
Mpdz A C 4: 81,253,979 (GRCm39) I1051S probably benign Het
Mroh8 A G 2: 157,058,834 (GRCm39) F944S probably damaging Het
Myh13 A G 11: 67,233,314 (GRCm39) Y611C probably damaging Het
Npat A G 9: 53,478,100 (GRCm39) N951D possibly damaging Het
Osmr T C 15: 6,876,547 (GRCm39) S126G probably benign Het
Parp14 T C 16: 35,655,206 (GRCm39) Y1755C probably damaging Het
Phf14 T C 6: 11,941,423 (GRCm39) probably benign Het
Prex2 T A 1: 11,256,876 (GRCm39) M1196K possibly damaging Het
Prkd1 A T 12: 50,430,264 (GRCm39) D614E probably damaging Het
Ptprm A G 17: 67,124,967 (GRCm39) L794P probably damaging Het
Rb1 C T 14: 73,502,038 (GRCm39) R449H probably damaging Het
Scfd1 A G 12: 51,474,652 (GRCm39) D469G probably benign Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Sgo1 A G 17: 53,984,130 (GRCm39) probably benign Het
Slc11a1 A G 1: 74,421,057 (GRCm39) probably null Het
Snw1 A G 12: 87,499,350 (GRCm39) probably null Het
Stac3 T C 10: 127,339,533 (GRCm39) I143T probably damaging Het
Tcta A T 9: 108,183,115 (GRCm39) L10Q probably damaging Het
Tha1 T C 11: 117,761,831 (GRCm39) probably benign Het
Trmt1 T C 8: 85,422,138 (GRCm39) M254T possibly damaging Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Zfyve28 A G 5: 34,400,539 (GRCm39) V53A probably damaging Het
Other mutations in Apol8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Apol8 APN 15 77,634,255 (GRCm39) missense probably benign 0.01
IGL01955:Apol8 APN 15 77,633,899 (GRCm39) missense probably benign 0.01
R0677:Apol8 UTSW 15 77,634,051 (GRCm39) missense probably damaging 1.00
R0964:Apol8 UTSW 15 77,633,811 (GRCm39) missense probably benign 0.43
R1720:Apol8 UTSW 15 77,633,566 (GRCm39) missense possibly damaging 0.93
R3508:Apol8 UTSW 15 77,633,643 (GRCm39) missense probably damaging 0.97
R6465:Apol8 UTSW 15 77,634,148 (GRCm39) missense probably benign 0.21
R6771:Apol8 UTSW 15 77,637,258 (GRCm39) splice site probably null
R7819:Apol8 UTSW 15 77,633,959 (GRCm39) missense probably damaging 1.00
R8113:Apol8 UTSW 15 77,634,336 (GRCm39) missense probably benign 0.00
R8511:Apol8 UTSW 15 77,634,273 (GRCm39) missense probably benign 0.00
R9012:Apol8 UTSW 15 77,634,324 (GRCm39) missense probably benign 0.06
R9644:Apol8 UTSW 15 77,633,695 (GRCm39) missense probably damaging 1.00
Posted On 2015-08-05