Incidental Mutation 'IGL02081:Apol7b'
ID192580
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: 0.077) question?
Stock #IGL02081
Quality Score
Status
Chromosome15
Chromosomal Location77422209-77447492 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77423536 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 253 (L253P)
Ref Sequence ENSEMBL: ENSMUSP00000086894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089469] [ENSMUST00000229434]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089469
AA Change: L253P

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: L253P

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 benign
Transcript: ENSMUST00000229434
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 43,570,196 L86I probably damaging Het
Adamts17 C T 7: 67,062,110 R726C probably damaging Het
Aff1 A G 5: 103,834,305 K778R probably damaging Het
Agr2 G A 12: 35,995,656 probably null Het
Alms1 T A 6: 85,620,303 C1173S possibly damaging Het
Atp10a A T 7: 58,827,856 T1268S possibly damaging Het
Atr A T 9: 95,883,205 K1149N probably damaging Het
Bri3bp G A 5: 125,441,897 probably null Het
Ccser1 T A 6: 61,311,168 L105* probably null Het
Cyp4a10 G A 4: 115,521,172 A152T possibly damaging Het
Dock2 C T 11: 34,254,355 D1396N probably benign Het
Ext1 A T 15: 53,073,446 Y634* probably null Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Gcn1l1 A G 5: 115,585,871 K529E probably damaging Het
H2-Q2 A G 17: 35,342,708 D58G probably damaging Het
Hid1 T C 11: 115,348,506 D776G possibly damaging Het
Il18r1 A T 1: 40,498,505 S477C probably damaging Het
Jmjd1c T G 10: 67,219,526 F242V probably benign Het
Krtap4-1 G A 11: 99,628,184 probably benign Het
Mms19 A G 19: 41,949,979 probably null Het
Mpdz T C 4: 81,335,869 T1009A probably damaging Het
Mrpl22 T C 11: 58,171,821 I19T probably benign Het
Mrvi1 T C 7: 110,924,074 probably null Het
Nup88 A G 11: 70,954,654 probably benign Het
Olfr1442 A T 19: 12,674,816 I204F probably benign Het
Pnpo T C 11: 96,939,324 Y183C probably damaging Het
Poln C T 5: 34,129,139 M228I probably benign Het
Scara5 T C 14: 65,730,655 W126R possibly damaging Het
Scmh1 T G 4: 120,515,078 C359W probably damaging Het
Snrpn T C 7: 59,987,446 I41V possibly damaging Het
St8sia1 T C 6: 142,829,227 M209V probably benign Het
Stard9 T A 2: 120,664,910 S89T probably damaging Het
Tet1 T C 10: 62,813,818 T1667A probably damaging Het
Tmem217 C T 17: 29,526,373 G128S probably damaging Het
Ttpal A G 2: 163,615,388 N260S probably benign Het
Vwa2 A G 19: 56,902,236 D233G probably benign Het
Wdr83 A G 8: 85,075,843 F258L probably benign Het
Zfp277 A T 12: 40,328,796 L354* probably null Het
Zfp516 A G 18: 82,955,733 R19G probably benign Het
Other mutations in Apol7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Apol7b APN 15 77423914 missense probably damaging 1.00
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 On2014-05-14