Incidental Mutation 'IGL02262:Apol7c'
ID 286793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol7c
Ensembl Gene ENSMUSG00000044309
Gene Name apolipoprotein L 7c
Synonyms 2210421G13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02262
Quality Score
Status
Chromosome 15
Chromosomal Location 77409052-77417516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77410013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 311 (M311K)
Ref Sequence ENSEMBL: ENSMUSP00000050745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062562] [ENSMUST00000230863]
AlphaFold Q8C6E1
Predicted Effect probably benign
Transcript: ENSMUST00000062562
AA Change: M311K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: M311K

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G T 10: 14,317,140 (GRCm39) A560E probably benign Het
Arap2 A C 5: 62,800,184 (GRCm39) V1281G probably damaging Het
Cacna1s C T 1: 136,035,867 (GRCm39) T1388I probably damaging Het
Dcaf13 T C 15: 38,982,102 (GRCm39) probably benign Het
Dscaml1 G A 9: 45,656,414 (GRCm39) G1585S probably benign Het
Dscaml1 G A 9: 45,643,378 (GRCm39) V1266I probably benign Het
Epc1 A G 18: 6,437,278 (GRCm39) L750P probably damaging Het
Fgd6 T A 10: 93,961,490 (GRCm39) M1108K probably damaging Het
Gm14496 T C 2: 181,637,805 (GRCm39) I293T probably damaging Het
Gm21759 T C 5: 8,230,747 (GRCm39) probably benign Het
Igkv3-10 A T 6: 70,550,154 (GRCm39) D100V possibly damaging Het
Ipo13 A C 4: 117,761,010 (GRCm39) I569M probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Kif26b A G 1: 178,743,633 (GRCm39) Y1243C probably benign Het
Map3k12 T C 15: 102,410,510 (GRCm39) E489G probably damaging Het
Mtcl2 A T 2: 156,872,826 (GRCm39) V895E probably damaging Het
Nrxn1 A G 17: 91,011,636 (GRCm39) V331A probably damaging Het
Ntrk1 G A 3: 87,689,104 (GRCm39) L529F probably damaging Het
Obscn A T 11: 58,919,359 (GRCm39) C6882S possibly damaging Het
Or14j5 A C 17: 38,162,154 (GRCm39) T224P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Ppp1r13b C A 12: 111,801,645 (GRCm39) L346F possibly damaging Het
Psg22 T C 7: 18,458,496 (GRCm39) S396P probably damaging Het
Rbm19 A G 5: 120,281,470 (GRCm39) E797G probably damaging Het
Ros1 T G 10: 52,055,065 (GRCm39) D79A probably damaging Het
Scn10a C T 9: 119,487,499 (GRCm39) V612I possibly damaging Het
Sema4c A G 1: 36,589,422 (GRCm39) V568A probably damaging Het
Traf5 A G 1: 191,729,636 (GRCm39) F472L probably damaging Het
Trim30b C T 7: 104,015,107 (GRCm39) V94M probably damaging Het
Wasl A T 6: 24,619,186 (GRCm39) S445T unknown Het
Zfp541 A G 7: 15,813,620 (GRCm39) K758E probably damaging Het
Other mutations in Apol7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Apol7c APN 15 77,410,637 (GRCm39) missense probably damaging 1.00
IGL01653:Apol7c APN 15 77,410,500 (GRCm39) missense probably damaging 1.00
IGL02169:Apol7c APN 15 77,410,616 (GRCm39) missense possibly damaging 0.87
IGL02375:Apol7c APN 15 77,413,049 (GRCm39) missense probably damaging 0.98
IGL02645:Apol7c APN 15 77,413,083 (GRCm39) missense probably benign 0.19
IGL02934:Apol7c APN 15 77,410,318 (GRCm39) missense possibly damaging 0.51
IGL03127:Apol7c APN 15 77,410,106 (GRCm39) missense probably benign 0.16
R0130:Apol7c UTSW 15 77,410,562 (GRCm39) missense possibly damaging 0.52
R0659:Apol7c UTSW 15 77,410,473 (GRCm39) missense probably damaging 0.99
R1638:Apol7c UTSW 15 77,410,418 (GRCm39) missense probably damaging 0.97
R1980:Apol7c UTSW 15 77,410,244 (GRCm39) missense probably benign 0.16
R4366:Apol7c UTSW 15 77,410,589 (GRCm39) missense probably benign 0.07
R4466:Apol7c UTSW 15 77,410,664 (GRCm39) missense probably benign 0.00
R4624:Apol7c UTSW 15 77,410,595 (GRCm39) missense probably damaging 1.00
R4629:Apol7c UTSW 15 77,410,595 (GRCm39) missense probably damaging 1.00
R4706:Apol7c UTSW 15 77,409,923 (GRCm39) missense probably benign 0.05
R5367:Apol7c UTSW 15 77,410,347 (GRCm39) missense probably damaging 1.00
R5586:Apol7c UTSW 15 77,410,599 (GRCm39) missense possibly damaging 0.81
R6239:Apol7c UTSW 15 77,410,631 (GRCm39) missense probably benign 0.28
R6860:Apol7c UTSW 15 77,410,274 (GRCm39) missense probably benign 0.02
R7179:Apol7c UTSW 15 77,409,843 (GRCm39) missense probably benign 0.01
R7234:Apol7c UTSW 15 77,409,875 (GRCm39) nonsense probably null
R7513:Apol7c UTSW 15 77,409,911 (GRCm39) missense possibly damaging 0.51
R7779:Apol7c UTSW 15 77,409,946 (GRCm39) missense probably damaging 0.98
R8499:Apol7c UTSW 15 77,410,280 (GRCm39) missense possibly damaging 0.88
R9335:Apol7c UTSW 15 77,409,889 (GRCm39) missense probably benign 0.00
R9354:Apol7c UTSW 15 77,410,112 (GRCm39) missense possibly damaging 0.51
Posted On 2015-04-16