Incidental Mutation 'IGL00590:Akap8l'
ID3877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap8l
Ensembl Gene ENSMUSG00000002625
Gene NameA kinase (PRKA) anchor protein 8-like
SynonymsNakap95
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.646) question?
Stock #IGL00590
Quality Score
Status
Chromosome17
Chromosomal Location32321425-32350581 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32333097 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 402 (D402G)
Ref Sequence ENSEMBL: ENSMUSP00000051389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050214]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050214
AA Change: D402G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: D402G

DomainStartEndE-ValueType
low complexity region 37 62 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
low complexity region 112 120 N/A INTRINSIC
low complexity region 236 257 N/A INTRINSIC
low complexity region 296 306 N/A INTRINSIC
low complexity region 307 324 N/A INTRINSIC
low complexity region 330 350 N/A INTRINSIC
coiled coil region 356 383 N/A INTRINSIC
ZnF_C2H2 389 413 1.05e1 SMART
SCOP:d1jvr__ 538 613 7e-5 SMART
low complexity region 628 640 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,423,815 F58C probably damaging Het
Adgrf5 G T 17: 43,453,147 G1320V probably damaging Het
Akap13 A G 7: 75,610,669 K211E probably benign Het
Akna T C 4: 63,371,878 I1198V probably benign Het
Apaf1 T A 10: 91,023,788 I832F probably damaging Het
Cbl A C 9: 44,201,198 L67V probably damaging Het
Chl1 T C 6: 103,693,061 Y471H probably benign Het
Cystm1 T A 18: 36,366,675 Y48N unknown Het
Dennd5b T C 6: 149,068,308 T216A probably benign Het
Dpep2 A T 8: 105,988,821 M356K probably damaging Het
Dtymk A G 1: 93,794,724 probably null Het
Fam91a1 A G 15: 58,415,716 D4G possibly damaging Het
Fbxl20 A G 11: 98,093,129 L306P probably damaging Het
Fchsd1 C T 18: 37,965,893 probably benign Het
Fndc1 G A 17: 7,765,101 T1331I unknown Het
Gpatch8 T C 11: 102,480,549 D721G unknown Het
Gsg1 A T 6: 135,244,350 I17N possibly damaging Het
Heyl A G 4: 123,246,630 *327W probably null Het
Kif13b G T 14: 64,779,462 R1359L probably damaging Het
Map3k14 C T 11: 103,237,554 G414S probably damaging Het
Meis2 C T 2: 115,868,793 A330T probably damaging Het
Mrpl9 T C 3: 94,443,696 L61P probably damaging Het
Mrps6 A G 16: 92,099,660 N38D probably benign Het
Muc4 C T 16: 32,754,347 T1407I probably benign Het
Nup107 A G 10: 117,763,803 Y604H probably damaging Het
Pgm2l1 T C 7: 100,255,619 probably null Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rb1cc1 T C 1: 6,238,296 F52S probably damaging Het
Rnft1 T A 11: 86,495,914 W383R probably damaging Het
Tas2r104 A T 6: 131,685,567 W60R probably damaging Het
Tlr11 A G 14: 50,360,916 T120A probably benign Het
Tmem150b T G 7: 4,723,897 I71L probably benign Het
Zfp296 A G 7: 19,577,835 D89G possibly damaging Het
Other mutations in Akap8l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Akap8l APN 17 32345353 missense probably damaging 1.00
IGL02028:Akap8l APN 17 32338521 splice site probably null
IGL02033:Akap8l APN 17 32338272 missense probably damaging 1.00
IGL02301:Akap8l APN 17 32332926 splice site probably benign
R1136:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1137:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1192:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1277:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1279:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1703:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1705:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1706:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1727:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1763:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1774:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1796:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R1954:Akap8l UTSW 17 32336736 missense possibly damaging 0.74
R2072:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R2073:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R2074:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R2107:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R2108:Akap8l UTSW 17 32332483 missense probably damaging 1.00
R2214:Akap8l UTSW 17 32338825 critical splice acceptor site probably null
R2215:Akap8l UTSW 17 32321595 missense possibly damaging 0.72
R2219:Akap8l UTSW 17 32334631 missense probably benign 0.23
R2234:Akap8l UTSW 17 32338803 missense probably damaging 1.00
R2871:Akap8l UTSW 17 32338442 missense possibly damaging 0.84
R2871:Akap8l UTSW 17 32338442 missense possibly damaging 0.84
R4273:Akap8l UTSW 17 32321931 nonsense probably null
R4379:Akap8l UTSW 17 32321514 unclassified probably benign
R5061:Akap8l UTSW 17 32332894 missense probably damaging 1.00
R5337:Akap8l UTSW 17 32336394 missense possibly damaging 0.71
R5377:Akap8l UTSW 17 32321511 unclassified probably benign
R5579:Akap8l UTSW 17 32321942 missense probably damaging 1.00
R5609:Akap8l UTSW 17 32338400 missense probably damaging 1.00
R5667:Akap8l UTSW 17 32338292 missense probably damaging 1.00
R5671:Akap8l UTSW 17 32338292 missense probably damaging 1.00
R5747:Akap8l UTSW 17 32345378 missense probably damaging 0.97
R6186:Akap8l UTSW 17 32333044 missense probably benign 0.02
R6400:Akap8l UTSW 17 32336320 missense probably damaging 0.99
R6482:Akap8l UTSW 17 32345396 missense possibly damaging 0.94
R6712:Akap8l UTSW 17 32332888 missense probably damaging 1.00
V5088:Akap8l UTSW 17 32336739 critical splice acceptor site probably null
Posted On2012-04-20