Incidental Mutation 'IGL01955:Apol8'
ID181411
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 #IGL01955
Quality Score
Status
Chromosome15
Chromosomal Location77747798-77757003 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77749699 bp
ZygosityHeterozygous
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]
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: 29,573,995 noncoding transcript Het
Abcc1 T A 16: 14,410,795 I302N probably damaging Het
Abhd16a A G 17: 35,101,340 S394G probably damaging Het
Adgrv1 T C 13: 81,182,783 Y71C probably damaging Het
Armc4 C T 18: 7,127,291 R974Q possibly damaging Het
Bbs7 A G 3: 36,610,322 S45P probably benign Het
Cacna1b T C 2: 24,639,137 Y1575C probably damaging Het
Cckbr T A 7: 105,434,962 V301E probably damaging Het
Cwc27 A G 13: 104,807,737 Y79H probably damaging Het
Dchs1 T C 7: 105,757,591 T2236A probably benign Het
Ddx50 T C 10: 62,647,183 R36G probably benign Het
Extl3 T A 14: 65,075,966 Y589F probably benign Het
Gab2 T C 7: 97,304,223 V601A probably damaging Het
Hsd3b1 T A 3: 98,853,147 N176I probably benign Het
L3mbtl3 A T 10: 26,318,438 S420R unknown Het
Olfr1000 A G 2: 85,608,707 F68L probably benign Het
Olfr319 T C 11: 58,702,129 S143P probably damaging Het
Olfr589 T A 7: 103,154,854 K298* probably null Het
Polr2a T C 11: 69,741,848 D974G probably damaging Het
Ptges3l T C 11: 101,423,818 K13E possibly damaging Het
Ptprk A G 10: 28,595,865 probably benign Het
Rassf3 T C 10: 121,417,122 Y60C probably damaging Het
Rnf157 T C 11: 116,359,896 T160A probably damaging Het
Secisbp2l A G 2: 125,743,812 probably null Het
Setd2 A G 9: 110,549,318 T734A probably benign Het
Skint5 A G 4: 113,623,736 probably null Het
Slc38a9 A G 13: 112,695,418 probably benign Het
Snx17 T G 5: 31,197,082 probably benign Het
Tas2r113 A T 6: 132,893,854 M282L probably benign Het
Tbc1d31 A G 15: 57,942,370 N404D probably benign Het
Tmem63c A T 12: 87,077,208 I487F probably benign Het
Tpm3 A G 3: 90,088,435 M164V probably benign Het
Trafd1 G T 5: 121,375,154 N340K probably benign Het
Trpv4 T A 5: 114,622,682 K863* probably null Het
Ttn A T 2: 76,797,352 M13003K possibly damaging Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Unc5b T C 10: 60,778,255 T272A probably benign Het
Vmn1r82 A C 7: 12,305,723 probably null Het
Zc3h7b A G 15: 81,792,004 N704D probably benign Het
Other mutations in Apol8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Apol8 APN 15 77750014 missense probably damaging 1.00
IGL00569:Apol8 APN 15 77750055 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 On2014-05-07