Incidental Mutation 'IGL01955:Apol8'
ID 181411
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 # IGL01955
Quality Score
Status
Chromosome 15
Chromosomal Location 77631998-77641203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77633899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 226 (C226R)
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: C226R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656
AA Change: C226R

DomainStartEndE-ValueType
Pfam:ApoL 26 333 2.5e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089450
AA Change: C226R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000086873
Gene: ENSMUSG00000056656
AA Change: C226R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,273,420 (GRCm39) noncoding transcript Het
Abcc1 T A 16: 14,228,659 (GRCm39) I302N probably damaging Het
Abhd16a A G 17: 35,320,316 (GRCm39) S394G probably damaging Het
Adgrv1 T C 13: 81,330,902 (GRCm39) Y71C probably damaging Het
Bbs7 A G 3: 36,664,471 (GRCm39) S45P probably benign Het
Cacna1b T C 2: 24,529,149 (GRCm39) Y1575C probably damaging Het
Cckbr T A 7: 105,084,169 (GRCm39) V301E probably damaging Het
Cwc27 A G 13: 104,944,245 (GRCm39) Y79H probably damaging Het
Dchs1 T C 7: 105,406,798 (GRCm39) T2236A probably benign Het
Ddx50 T C 10: 62,482,962 (GRCm39) R36G probably benign Het
Extl3 T A 14: 65,313,415 (GRCm39) Y589F probably benign Het
Gab2 T C 7: 96,953,430 (GRCm39) V601A probably damaging Het
Hsd3b1 T A 3: 98,760,463 (GRCm39) N176I probably benign Het
L3mbtl3 A T 10: 26,194,336 (GRCm39) S420R unknown Het
Odad2 C T 18: 7,127,291 (GRCm39) R974Q possibly damaging Het
Or2ak6 T C 11: 58,592,955 (GRCm39) S143P probably damaging Het
Or52e2 T A 7: 102,804,061 (GRCm39) K298* probably null Het
Or5g23 A G 2: 85,439,051 (GRCm39) F68L probably benign Het
Polr2a T C 11: 69,632,674 (GRCm39) D974G probably damaging Het
Ptges3l T C 11: 101,314,644 (GRCm39) K13E possibly damaging Het
Ptprk A G 10: 28,471,861 (GRCm39) probably benign Het
Rassf3 T C 10: 121,253,027 (GRCm39) Y60C probably damaging Het
Rnf157 T C 11: 116,250,722 (GRCm39) T160A probably damaging Het
Secisbp2l A G 2: 125,585,732 (GRCm39) probably null Het
Setd2 A G 9: 110,378,386 (GRCm39) T734A probably benign Het
Skint5 A G 4: 113,480,933 (GRCm39) probably null Het
Slc38a9 A G 13: 112,831,952 (GRCm39) probably benign Het
Snx17 T G 5: 31,354,426 (GRCm39) probably benign Het
Tas2r113 A T 6: 132,870,817 (GRCm39) M282L probably benign Het
Tbc1d31 A G 15: 57,805,766 (GRCm39) N404D probably benign Het
Tmem63c A T 12: 87,123,982 (GRCm39) I487F probably benign Het
Tpm3 A G 3: 89,995,742 (GRCm39) M164V probably benign Het
Trafd1 G T 5: 121,513,217 (GRCm39) N340K probably benign Het
Trpv4 T A 5: 114,760,743 (GRCm39) K863* probably null Het
Ttn A T 2: 76,627,696 (GRCm39) M13003K possibly damaging Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Unc5b T C 10: 60,614,034 (GRCm39) T272A probably benign Het
Vmn1r82 A C 7: 12,039,650 (GRCm39) probably null Het
Zc3h7b A G 15: 81,676,205 (GRCm39) N704D probably benign Het
Other mutations in Apol8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Apol8 APN 15 77,634,214 (GRCm39) missense probably damaging 1.00
IGL00569:Apol8 APN 15 77,634,255 (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 2014-05-07