Incidental Mutation 'IGL01702:Apol7a'
ID 104500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol7a
Ensembl Gene ENSMUSG00000010601
Gene Name apolipoprotein L 7a
Synonyms 9130022K13Rik, Apol3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01702
Quality Score
Status
Chromosome 15
Chromosomal Location 77272419-77283310 bp(-) (GRCm39)
Type of Mutation splice site (3729 bp from exon)
DNA Base Change (assembly) T to C at 77273886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010745] [ENSMUST00000175789] [ENSMUST00000175919] [ENSMUST00000176074]
AlphaFold B2RT54
Predicted Effect probably damaging
Transcript: ENSMUST00000010745
AA Change: D192G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010745
Gene: ENSMUSG00000010601
AA Change: D192G

DomainStartEndE-ValueType
Pfam:ApoL 20 82 2.4e-13 PFAM
low complexity region 84 95 N/A INTRINSIC
Pfam:ApoL 123 416 1.8e-122 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000175789
Predicted Effect probably damaging
Transcript: ENSMUST00000175919
AA Change: D192G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135864
Gene: ENSMUSG00000010601
AA Change: D192G

DomainStartEndE-ValueType
Pfam:ApoL 20 416 3.1e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176074
AA Change: D192G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134864
Gene: ENSMUSG00000010601
AA Change: D192G

DomainStartEndE-ValueType
Pfam:ApoL 20 416 3.1e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177135
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb2 C T 12: 103,302,164 (GRCm39) G128E possibly damaging Het
Atp11c A T X: 59,315,263 (GRCm39) S683T probably damaging Het
Brinp3 A G 1: 146,627,735 (GRCm39) probably benign Het
Cpeb3 A T 19: 37,103,782 (GRCm39) M369K possibly damaging Het
Exoc5 A T 14: 49,253,072 (GRCm39) C580* probably null Het
Gm9956 A G 10: 56,621,335 (GRCm39) Het
Gzmk C T 13: 113,317,084 (GRCm39) V32I probably damaging Het
Hsf4 T C 8: 105,998,221 (GRCm39) I129T probably damaging Het
Igkv1-115 T A 6: 68,138,516 (GRCm39) W40R probably damaging Het
Iqub A T 6: 24,500,312 (GRCm39) M314K probably benign Het
Krt87 T C 15: 101,389,099 (GRCm39) T78A probably benign Het
Med28 T C 5: 45,682,633 (GRCm39) S100P probably benign Het
Prx G A 7: 27,219,212 (GRCm39) V1238I probably benign Het
Ptprq T C 10: 107,353,727 (GRCm39) N2263S probably benign Het
Rab12 A G 17: 66,826,384 (GRCm39) F61S probably damaging Het
Serpinb9d T C 13: 33,387,006 (GRCm39) F358S probably damaging Het
Slc25a3 A T 10: 90,953,987 (GRCm39) Y242N probably damaging Het
Smtnl1 T C 2: 84,649,034 (GRCm39) I73M possibly damaging Het
Tnp1 C A 1: 73,054,877 (GRCm39) probably benign Het
Trim5 T C 7: 103,928,638 (GRCm39) E101G probably damaging Het
Other mutations in Apol7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Apol7a APN 15 77,274,055 (GRCm39) unclassified probably benign
IGL01408:Apol7a APN 15 77,273,530 (GRCm39) missense probably damaging 1.00
IGL02215:Apol7a APN 15 77,277,690 (GRCm39) missense possibly damaging 0.81
IGL02931:Apol7a APN 15 77,277,650 (GRCm39) nonsense probably null
R0610:Apol7a UTSW 15 77,273,454 (GRCm39) missense probably benign 0.06
R0652:Apol7a UTSW 15 77,274,055 (GRCm39) unclassified probably benign
R1616:Apol7a UTSW 15 77,273,806 (GRCm39) missense probably damaging 1.00
R1756:Apol7a UTSW 15 77,277,671 (GRCm39) missense possibly damaging 0.93
R3034:Apol7a UTSW 15 77,273,923 (GRCm39) missense probably benign 0.03
R4566:Apol7a UTSW 15 77,273,951 (GRCm39) nonsense probably null
R5059:Apol7a UTSW 15 77,274,012 (GRCm39) unclassified probably benign
R6807:Apol7a UTSW 15 77,277,520 (GRCm39) splice site probably null
R6995:Apol7a UTSW 15 77,274,176 (GRCm39) unclassified probably benign
R7824:Apol7a UTSW 15 77,273,275 (GRCm39) missense probably damaging 1.00
R8364:Apol7a UTSW 15 77,273,820 (GRCm39) missense possibly damaging 0.51
R8375:Apol7a UTSW 15 77,273,547 (GRCm39) missense probably damaging 1.00
R9396:Apol7a UTSW 15 77,273,925 (GRCm39) missense possibly damaging 0.76
R9471:Apol7a UTSW 15 77,273,680 (GRCm39) missense possibly damaging 0.95
Posted On 2014-01-21