Incidental Mutation 'IGL01112:Apol7c'
ID52816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol7c
Ensembl Gene ENSMUSG00000044309
Gene Nameapolipoprotein L 7c
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01112
Quality Score
Status
Chromosome15
Chromosomal Location77524852-77533316 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77526437 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 103 (D103V)
Ref Sequence ENSEMBL: ENSMUSP00000050745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062562] [ENSMUST00000230863]
Predicted Effect probably damaging
Transcript: ENSMUST00000062562
AA Change: D103V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: D103V

DomainStartEndE-ValueType
Pfam:ApoL 20 81 1.7e-12 PFAM
Pfam:ApoL 77 367 5.1e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230863
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,637,145 I401V possibly damaging Het
Ap2a2 A T 7: 141,605,019 probably benign Het
Arid4a T C 12: 71,072,733 probably null Het
Atp2a1 A G 7: 126,450,307 V521A probably benign Het
Ccdc88c G T 12: 100,916,803 D1603E probably benign Het
Clec4f T C 6: 83,653,200 I125M probably benign Het
Dsc1 T C 18: 20,094,622 I520V probably benign Het
Eomes G A 9: 118,482,266 A386T probably damaging Het
Gldc C T 19: 30,158,513 probably null Het
Hectd4 G T 5: 121,306,950 M1420I probably benign Het
Hmcn1 A T 1: 150,632,552 probably benign Het
Ighv6-3 G A 12: 114,391,715 T118I possibly damaging Het
Krt82 A G 15: 101,545,523 F250S probably damaging Het
Ltb A G 17: 35,194,600 T27A probably benign Het
Mex3b T A 7: 82,869,703 S409T probably benign Het
Mki67 A T 7: 135,714,016 I39N probably damaging Het
Olfr576 A G 7: 102,966,028 probably benign Het
Palmd A G 3: 116,924,273 S192P probably damaging Het
Pcdh20 A T 14: 88,467,200 M888K probably benign Het
Pclo A T 5: 14,681,069 H3195L unknown Het
Pgm1 A T 5: 64,102,882 I137F possibly damaging Het
Polq T A 16: 37,017,309 N194K probably damaging Het
Rmnd1 T C 10: 4,410,793 probably null Het
Rnf114 T C 2: 167,512,539 M180T probably damaging Het
Sap30 A G 8: 57,485,089 F165L possibly damaging Het
Scgb3a2 T A 18: 43,766,994 probably benign Het
Sftpa1 A T 14: 41,132,570 N38I probably benign Het
Sumf1 A G 6: 108,176,016 F137S probably damaging Het
Tln2 C A 9: 67,311,811 R284L probably damaging Het
Ttn C T 2: 76,740,359 R26730Q probably damaging Het
Ttn T A 2: 76,710,464 R25732S probably damaging Het
Tubgcp4 T C 2: 121,173,601 V41A probably benign Het
Usp53 T A 3: 122,957,718 Q230L probably damaging Het
Vmn2r57 T C 7: 41,425,043 E532G probably damaging Het
Vps9d1 G T 8: 123,246,030 N454K probably damaging Het
Wdr55 T C 18: 36,762,079 probably null Het
Zfp263 T A 16: 3,748,912 C76S probably benign Het
Other mutations in Apol7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Apol7c APN 15 77526300 missense probably damaging 1.00
IGL02169:Apol7c APN 15 77526416 missense possibly damaging 0.87
IGL02262:Apol7c APN 15 77525813 missense probably benign 0.20
IGL02375:Apol7c APN 15 77528849 missense probably damaging 0.98
IGL02645:Apol7c APN 15 77528883 missense probably benign 0.19
IGL02934:Apol7c APN 15 77526118 missense possibly damaging 0.51
IGL03127:Apol7c APN 15 77525906 missense probably benign 0.16
R0130:Apol7c UTSW 15 77526362 missense possibly damaging 0.52
R0659:Apol7c UTSW 15 77526273 missense probably damaging 0.99
R1638:Apol7c UTSW 15 77526218 missense probably damaging 0.97
R1980:Apol7c UTSW 15 77526044 missense probably benign 0.16
R4366:Apol7c UTSW 15 77526389 missense probably benign 0.07
R4466:Apol7c UTSW 15 77526464 missense probably benign 0.00
R4624:Apol7c UTSW 15 77526395 missense probably damaging 1.00
R4629:Apol7c UTSW 15 77526395 missense probably damaging 1.00
R4706:Apol7c UTSW 15 77525723 missense probably benign 0.05
R5367:Apol7c UTSW 15 77526147 missense probably damaging 1.00
R5586:Apol7c UTSW 15 77526399 missense possibly damaging 0.81
R6239:Apol7c UTSW 15 77526431 missense probably benign 0.28
R6860:Apol7c UTSW 15 77526074 missense probably benign 0.02
R7179:Apol7c UTSW 15 77525643 missense probably benign 0.01
R7234:Apol7c UTSW 15 77525675 nonsense probably null
R7513:Apol7c UTSW 15 77525711 missense possibly damaging 0.51
R7779:Apol7c UTSW 15 77525746 missense probably damaging 0.98
R8499:Apol7c UTSW 15 77526080 missense possibly damaging 0.88
Posted On2013-06-21