Incidental Mutation 'IGL02262:Apol7c'
ID286793
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: 0.064) question?
Stock #IGL02262
Quality Score
Status
Chromosome15
Chromosomal Location77524852-77533316 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77525813 bp
ZygosityHeterozygous
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]
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: 14,441,396 A560E probably benign Het
Arap2 A C 5: 62,642,841 V1281G probably damaging Het
Cacna1s C T 1: 136,108,129 T1388I probably damaging Het
Dcaf13 T C 15: 39,118,707 probably benign Het
Dscaml1 G A 9: 45,732,080 V1266I probably benign Het
Dscaml1 G A 9: 45,745,116 G1585S probably benign Het
Epc1 A G 18: 6,437,278 L750P probably damaging Het
Fgd6 T A 10: 94,125,628 M1108K probably damaging Het
Gm14496 T C 2: 181,996,012 I293T probably damaging Het
Gm21759 T C 5: 8,180,747 probably benign Het
Igkv3-10 A T 6: 70,573,170 D100V possibly damaging Het
Ipo13 A C 4: 117,903,813 I569M probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kif26b A G 1: 178,916,068 Y1243C probably benign Het
Map3k12 T C 15: 102,502,075 E489G probably damaging Het
Nrxn1 A G 17: 90,704,208 V331A probably damaging Het
Ntrk1 G A 3: 87,781,797 L529F probably damaging Het
Obscn A T 11: 59,028,533 C6882S possibly damaging Het
Olfr126 A C 17: 37,851,263 T224P probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Ppp1r13b C A 12: 111,835,211 L346F possibly damaging Het
Psg22 T C 7: 18,724,571 S396P probably damaging Het
Rbm19 A G 5: 120,143,405 E797G probably damaging Het
Ros1 T G 10: 52,178,969 D79A probably damaging Het
Scn10a C T 9: 119,658,433 V612I possibly damaging Het
Sema4c A G 1: 36,550,341 V568A probably damaging Het
Soga1 A T 2: 157,030,906 V895E probably damaging Het
Traf5 A G 1: 191,997,675 F472L probably damaging Het
Trim30b C T 7: 104,365,900 V94M probably damaging Het
Wasl A T 6: 24,619,187 S445T unknown Het
Zfp541 A G 7: 16,079,695 K758E probably damaging Het
Other mutations in Apol7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Apol7c APN 15 77526437 missense probably damaging 1.00
IGL01653:Apol7c APN 15 77526300 missense probably damaging 1.00
IGL02169:Apol7c APN 15 77526416 missense possibly damaging 0.87
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 On2015-04-16