Incidental Mutation 'IGL01086:Apol7b'
ID52784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol7b
Ensembl Gene ENSMUSG00000068252
Gene Nameapolipoprotein L 7b
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01086
Quality Score
Status
Chromosome15
Chromosomal Location77422209-77447492 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77423914 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 127 (E127G)
Ref Sequence ENSEMBL: ENSMUSP00000086894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089469] [ENSMUST00000229434]
Predicted Effect probably damaging
Transcript: ENSMUST00000089469
AA Change: E127G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: E127G

DomainStartEndE-ValueType
Pfam:ApoL 20 82 7.9e-15 PFAM
Pfam:ApoL 77 367 1.9e-123 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229381
Predicted Effect probably damaging
Transcript: ENSMUST00000229434
AA Change: E127G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,648,863 R104S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Aim2 A G 1: 173,455,433 Y27C probably damaging Het
Atp10a T C 7: 58,824,318 F1118L probably damaging Het
Cacna1e T C 1: 154,471,601 D940G probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clip4 G A 17: 71,824,794 V376I probably benign Het
Coro6 C A 11: 77,466,548 C194* probably null Het
Crebbp T C 16: 4,179,552 M223V probably benign Het
Dkk4 T A 8: 22,626,841 C157S probably damaging Het
Dnah14 T C 1: 181,752,046 L3048S probably benign Het
Dscaml1 T C 9: 45,702,662 probably benign Het
Gpr1 T C 1: 63,183,491 E195G probably benign Het
Gria2 T C 3: 80,692,381 Y732C probably damaging Het
Igkv4-59 T C 6: 69,438,723 I7V probably benign Het
Lamc3 T C 2: 31,898,476 F216S probably damaging Het
Lcn6 T C 2: 25,680,780 F61L probably benign Het
Nup205 T A 6: 35,208,936 probably benign Het
Olfr1143 T A 2: 87,803,200 Y266* probably null Het
Otof C T 5: 30,376,273 probably null Het
Pik3c2b T C 1: 133,091,618 C1035R probably damaging Het
Pla1a T C 16: 38,407,622 N298D probably benign Het
Poteg T A 8: 27,473,620 probably benign Het
Pwp1 T C 10: 85,879,893 probably null Het
Scel A G 14: 103,612,391 I631V probably benign Het
Scn3a T A 2: 65,470,159 M1288L probably benign Het
Serpina11 T A 12: 103,986,070 D147V probably damaging Het
Shroom3 T A 5: 92,948,452 C1266S probably benign Het
Slc12a7 A G 13: 73,814,843 Y1054C probably damaging Het
Srms A G 2: 181,212,423 V117A probably damaging Het
Tmem161b T C 13: 84,222,422 probably benign Het
Tmem94 A T 11: 115,790,284 T158S probably benign Het
Tomm40l T C 1: 171,220,309 probably null Het
Traf6 A G 2: 101,684,783 I95V probably benign Het
Ttc13 A G 8: 124,675,346 I686T probably damaging Het
Zmat2 C T 18: 36,796,110 H104Y probably damaging Het
Other mutations in Apol7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Apol7b APN 15 77423536 missense possibly damaging 0.83
IGL02350:Apol7b APN 15 77423632 missense probably benign 0.05
IGL02357:Apol7b APN 15 77423632 missense probably benign 0.05
R0506:Apol7b UTSW 15 77425528 missense probably benign 0.02
R1187:Apol7b UTSW 15 77423403 missense possibly damaging 0.94
R1433:Apol7b UTSW 15 77425546 missense probably damaging 1.00
R1978:Apol7b UTSW 15 77423339 missense probably damaging 0.99
R2272:Apol7b UTSW 15 77423710 missense probably damaging 1.00
R4012:Apol7b UTSW 15 77424709 missense probably damaging 0.98
R4485:Apol7b UTSW 15 77423666 missense probably benign
R4571:Apol7b UTSW 15 77423534 missense probably benign 0.01
R4823:Apol7b UTSW 15 77427782 utr 5 prime probably benign
R5018:Apol7b UTSW 15 77424716 missense probably benign 0.03
R5944:Apol7b UTSW 15 77423767 missense probably damaging 0.99
R6514:Apol7b UTSW 15 77423926 missense probably benign 0.00
R6519:Apol7b UTSW 15 77423348 missense probably benign 0.01
R6808:Apol7b UTSW 15 77424673 missense probably damaging 1.00
R6904:Apol7b UTSW 15 77423425 missense probably benign 0.09
R7570:Apol7b UTSW 15 77423474 missense probably benign 0.00
R7571:Apol7b UTSW 15 77423477 missense probably benign 0.07
Posted On2013-06-21