Incidental Mutation 'IGL00569:Apol8'
ID 332646
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 # IGL00569
Quality Score
Status
Chromosome 15
Chromosomal Location 77631998-77641203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77634255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 107 (R107H)
Ref Sequence ENSEMBL: ENSMUSP00000086873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070911] [ENSMUST00000089450] [ENSMUST00000229332] [ENSMUST00000229445]
AlphaFold A2VDH7
Predicted Effect probably benign
Transcript: ENSMUST00000070911
AA Change: R107H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656
AA Change: R107H

DomainStartEndE-ValueType
Pfam:ApoL 26 333 2.5e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089450
AA Change: R107H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000086873
Gene: ENSMUSG00000056656
AA Change: R107H

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T G 11: 110,077,875 (GRCm39) N1311H possibly damaging Het
Adrm1b T C 3: 92,335,707 (GRCm39) T332A probably benign Het
Cacna1a T A 8: 85,189,343 (GRCm39) I98N probably damaging Het
Clps T A 17: 28,779,636 (GRCm39) probably benign Het
Dcc T A 18: 71,517,296 (GRCm39) probably null Het
Dock10 A G 1: 80,562,729 (GRCm39) F544L probably damaging Het
Eif2ak2 A T 17: 79,176,912 (GRCm39) S218T probably benign Het
Faf1 T C 4: 109,819,077 (GRCm39) *650Q probably null Het
Fxn A T 19: 24,244,714 (GRCm39) I142N probably damaging Het
Gm10610 A T 7: 83,198,778 (GRCm39) noncoding transcript Het
Hspa1l C T 17: 35,196,441 (GRCm39) T160I probably damaging Het
Kcng4 A G 8: 120,353,070 (GRCm39) V280A probably benign Het
Khsrp T C 17: 57,330,092 (GRCm39) T646A possibly damaging Het
Lilra6 A G 7: 3,917,588 (GRCm39) S136P probably damaging Het
Lmo7 T G 14: 102,124,487 (GRCm39) N315K probably damaging Het
Map3k5 A G 10: 19,810,790 (GRCm39) T147A possibly damaging Het
Mical3 T C 6: 120,938,585 (GRCm39) E1134G possibly damaging Het
Nek3 A G 8: 22,648,722 (GRCm39) L103P probably damaging Het
Nudt17 G T 3: 96,614,343 (GRCm39) P222Q probably damaging Het
Pla2r1 G T 2: 60,250,769 (GRCm39) T1386K probably benign Het
Ptpn13 A G 5: 103,738,872 (GRCm39) probably benign Het
Rgl1 A C 1: 152,447,368 (GRCm39) S134A probably benign Het
Rnls T A 19: 33,145,888 (GRCm39) E195V probably benign Het
Sall4 T C 2: 168,597,232 (GRCm39) N536S probably benign Het
Serinc3 G T 2: 163,469,921 (GRCm39) P309Q probably damaging Het
Smc5 G A 19: 23,213,329 (GRCm39) R528C probably damaging Het
Stxbp3-ps A T 19: 9,535,186 (GRCm39) noncoding transcript Het
Tmem67 T A 4: 12,061,826 (GRCm39) I549L probably damaging Het
Trank1 C A 9: 111,174,579 (GRCm39) H269N possibly damaging Het
Wdr87-ps A T 7: 29,233,565 (GRCm39) noncoding transcript Het
Other mutations in Apol8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Apol8 APN 15 77,634,214 (GRCm39) missense probably damaging 1.00
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