Incidental Mutation 'IGL00569:Apol8'
ID332646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol8
Ensembl Gene ENSMUSG00000056656
Gene Nameapolipoprotein L 8
SynonymsApol2, 9830006J20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00569
Quality Score
Status
Chromosome15
Chromosomal Location77747798-77757003 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 77750055 bp
ZygosityHeterozygous
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]
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
4932431P20Rik A T 7: 29,534,140 noncoding transcript Het
Abca6 T G 11: 110,187,049 N1311H possibly damaging Het
Cacna1a T A 8: 84,462,714 I98N probably damaging Het
Clps T A 17: 28,560,662 probably benign Het
Dcc T A 18: 71,384,225 probably null Het
Dock10 A G 1: 80,585,012 F544L probably damaging Het
Eif2ak2 A T 17: 78,869,483 S218T probably benign Het
Faf1 T C 4: 109,961,880 *650Q probably null Het
Fxn A T 19: 24,267,350 I142N probably damaging Het
Gm10610 A T 7: 83,549,570 noncoding transcript Het
Gm9774 T C 3: 92,428,400 T332A probably benign Het
Hspa1l C T 17: 34,977,465 T160I probably damaging Het
Kcng4 A G 8: 119,626,331 V280A probably benign Het
Khsrp T C 17: 57,023,092 T646A possibly damaging Het
Lilra6 A G 7: 3,914,589 S136P probably damaging Het
Lmo7 T G 14: 101,887,051 N315K probably damaging Het
Map3k5 A G 10: 19,935,044 T147A possibly damaging Het
Mical3 T C 6: 120,961,624 E1134G possibly damaging Het
Nek3 A G 8: 22,158,706 L103P probably damaging Het
Nudt17 G T 3: 96,707,027 P222Q probably damaging Het
Pla2r1 G T 2: 60,420,425 T1386K probably benign Het
Ptpn13 A G 5: 103,591,006 probably benign Het
Rgl1 A C 1: 152,571,617 S134A probably benign Het
Rnls T A 19: 33,168,488 E195V probably benign Het
Sall4 T C 2: 168,755,312 N536S probably benign Het
Serinc3 G T 2: 163,628,001 P309Q probably damaging Het
Smc5 G A 19: 23,235,965 R528C probably damaging Het
Stxbp3-ps A T 19: 9,557,822 noncoding transcript Het
Tmem67 T A 4: 12,061,826 I549L probably damaging Het
Trank1 C A 9: 111,345,511 H269N possibly damaging Het
Other mutations in Apol8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Apol8 APN 15 77750014 missense probably damaging 1.00
IGL01955:Apol8 APN 15 77749699 missense probably benign 0.01
R0677:Apol8 UTSW 15 77749851 missense probably damaging 1.00
R0964:Apol8 UTSW 15 77749611 missense probably benign 0.43
R1720:Apol8 UTSW 15 77749366 missense possibly damaging 0.93
R3508:Apol8 UTSW 15 77749443 missense probably damaging 0.97
R6465:Apol8 UTSW 15 77749948 missense probably benign 0.21
R6771:Apol8 UTSW 15 77753058 intron probably null
R7819:Apol8 UTSW 15 77749759 missense probably damaging 1.00
Posted On2015-08-05