Incidental Mutation 'IGL01408:Apol7a'
ID79872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol7a
Ensembl Gene ENSMUSG00000010601
Gene Nameapolipoprotein L 7a
SynonymsApol3, 9130022K13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01408
Quality Score
Status
Chromosome15
Chromosomal Location77388219-77399110 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 77389330 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 311 (A311T)
Ref Sequence ENSEMBL: ENSMUSP00000134864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010745] [ENSMUST00000175789] [ENSMUST00000175919] [ENSMUST00000176074]
Predicted Effect probably damaging
Transcript: ENSMUST00000010745
AA Change: A311T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010745
Gene: ENSMUSG00000010601
AA Change: A311T

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 benign
Transcript: ENSMUST00000175789
Predicted Effect probably damaging
Transcript: ENSMUST00000175919
AA Change: A311T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135864
Gene: ENSMUSG00000010601
AA Change: A311T

DomainStartEndE-ValueType
Pfam:ApoL 20 416 3.1e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176074
AA Change: A311T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134864
Gene: ENSMUSG00000010601
AA Change: A311T

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,403,366 R145G probably damaging Het
Akr1c21 T A 13: 4,577,432 M175K probably benign Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Bmp2k C T 5: 97,086,964 Q749* probably null Het
Ccdc141 G A 2: 77,045,679 A669V probably benign Het
Cndp2 A C 18: 84,670,911 C249G probably benign Het
Cnr1 A G 4: 33,944,802 I397V possibly damaging Het
Col19a1 T C 1: 24,306,250 probably benign Het
Dbn1 T C 13: 55,482,304 probably benign Het
Dmgdh C T 13: 93,709,295 P486S probably damaging Het
Dpys A G 15: 39,793,306 V455A possibly damaging Het
Farp2 A G 1: 93,618,980 N907S probably benign Het
Fndc3c1 C T X: 106,432,772 E894K probably benign Het
Gm6685 A T 11: 28,339,473 N114K probably damaging Het
Golga3 A T 5: 110,217,809 probably null Het
Grin2c A G 11: 115,260,882 L84P probably damaging Het
Gucy2c A G 6: 136,698,011 F1001L probably benign Het
Hcn4 A G 9: 58,859,886 H910R unknown Het
Kdm4b T C 17: 56,353,518 probably benign Het
Lrrfip2 A G 9: 111,214,216 T497A probably benign Het
Man2c1 A G 9: 57,141,600 Y924C probably damaging Het
Nkain2 T A 10: 32,402,241 T63S probably damaging Het
Nlrp1a T A 11: 71,122,916 T503S probably benign Het
Olfr658 T A 7: 104,644,929 I146F possibly damaging Het
Olfr665 T C 7: 104,880,830 V41A probably benign Het
Pitrm1 T A 13: 6,573,042 C780S probably damaging Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rapgef4 C T 2: 72,174,841 R193* probably null Het
Rbm20 A G 19: 53,851,613 E1011G possibly damaging Het
Rfx3 A T 19: 27,768,650 D685E probably benign Het
Ror1 T C 4: 100,333,787 S114P probably damaging Het
Slc17a6 A G 7: 51,669,115 K502E probably benign Het
Spink2 A T 5: 77,211,327 probably benign Het
Sptb A T 12: 76,613,147 I993N possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tes A T 6: 17,099,879 Y291F probably damaging Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Trpa1 T C 1: 14,889,413 E683G probably benign Het
Vmn2r73 T C 7: 85,872,247 D171G probably benign Het
Wbp11 A G 6: 136,814,614 probably benign Het
Wfdc12 A G 2: 164,189,661 *86R probably null Het
Zfp281 T C 1: 136,626,115 V277A probably damaging Het
Other mutations in Apol7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Apol7a APN 15 77389855 unclassified probably benign
IGL01702:Apol7a APN 15 77389686 unclassified probably null
IGL02215:Apol7a APN 15 77393490 missense possibly damaging 0.81
IGL02931:Apol7a APN 15 77393450 nonsense probably null
R0610:Apol7a UTSW 15 77389254 missense probably benign 0.06
R0652:Apol7a UTSW 15 77389855 unclassified probably benign
R1616:Apol7a UTSW 15 77389606 missense probably damaging 1.00
R1756:Apol7a UTSW 15 77393471 missense possibly damaging 0.93
R3034:Apol7a UTSW 15 77389723 missense probably benign 0.03
R4566:Apol7a UTSW 15 77389751 nonsense probably null
R5059:Apol7a UTSW 15 77389812 unclassified probably benign
R6807:Apol7a UTSW 15 77393320 intron probably null
R6995:Apol7a UTSW 15 77389976 unclassified probably benign
R7824:Apol7a UTSW 15 77389075 missense probably damaging 1.00
Posted On2013-11-05