Incidental Mutation 'R5377:Akap8l'
ID 425650
Institutional Source Beutler Lab
Gene Symbol Akap8l
Ensembl Gene ENSMUSG00000002625
Gene Name A kinase anchor protein 8-like
Synonyms Nakap95
MMRRC Submission 042845-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R5377 (G1)
Quality Score 216
Status Not validated
Chromosome 17
Chromosomal Location 32540398-32569581 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 32540485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002699] [ENSMUST00000050214]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002699
SMART Domains Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045

DomainStartEndE-ValueType
SCOP:d1a0tp_ 12 108 3e-19 SMART
low complexity region 183 198 N/A INTRINSIC
low complexity region 257 270 N/A INTRINSIC
low complexity region 354 384 N/A INTRINSIC
ZnF_C2H2 387 411 9.46e0 SMART
Blast:ZnF_C2H2 476 501 9e-9 BLAST
low complexity region 551 582 N/A INTRINSIC
low complexity region 642 651 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000050214
AA Change: E636G
SMART Domains Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: E636G

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,622,212 (GRCm39) V372F probably benign Het
Adcy10 G A 1: 165,347,464 (GRCm39) C393Y probably damaging Het
Adgrg7 A C 16: 56,550,669 (GRCm39) I681S possibly damaging Het
Akr1a1 A T 4: 116,497,092 (GRCm39) V156E probably damaging Het
Alk T G 17: 72,202,734 (GRCm39) D1167A probably damaging Het
Ankrd11 T C 8: 123,620,453 (GRCm39) probably null Het
Aspm T A 1: 139,385,221 (GRCm39) N288K probably damaging Het
Aspm A G 1: 139,398,133 (GRCm39) probably null Het
Asxl2 G A 12: 3,524,618 (GRCm39) probably null Het
Atp6v0a1 A G 11: 100,946,413 (GRCm39) H802R probably damaging Het
B4galnt1 A G 10: 127,007,691 (GRCm39) T531A possibly damaging Het
Cecr2 A G 6: 120,733,530 (GRCm39) N506D possibly damaging Het
Crebrf T C 17: 26,978,839 (GRCm39) V509A probably damaging Het
Cyp4f40 A T 17: 32,894,590 (GRCm39) I413F probably null Het
Defb12 C A 8: 19,164,342 (GRCm39) probably null Het
Dnah2 T C 11: 69,312,674 (GRCm39) E4297G probably damaging Het
Dpysl5 A T 5: 30,948,857 (GRCm39) N371Y probably damaging Het
Eef1d G T 15: 75,775,038 (GRCm39) T207N probably benign Het
Esrrb C T 12: 86,565,783 (GRCm39) Q416* probably null Het
Exd2 T C 12: 80,536,222 (GRCm39) L284P probably damaging Het
Fat3 T A 9: 16,287,739 (GRCm39) I595F probably benign Het
Gm9920 A G 15: 54,972,371 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,084 (GRCm39) K783E probably damaging Het
Irs2 A G 8: 11,055,277 (GRCm39) S1052P probably benign Het
Kctd18 T C 1: 58,002,252 (GRCm39) I192V probably benign Het
Lama3 A G 18: 12,586,803 (GRCm39) D722G probably damaging Het
Lepr T C 4: 101,672,216 (GRCm39) V1080A possibly damaging Het
Lpin1 C T 12: 16,613,656 (GRCm39) G504S probably damaging Het
Lrit2 A C 14: 36,791,140 (GRCm39) Q273P possibly damaging Het
Mlkl T A 8: 112,054,569 (GRCm39) E189D probably benign Het
Mttp C T 3: 137,810,790 (GRCm39) R608H probably benign Het
Nav2 T C 7: 49,238,908 (GRCm39) V2011A probably benign Het
Nos2 A T 11: 78,848,317 (GRCm39) I1075F probably benign Het
Npat A G 9: 53,461,336 (GRCm39) probably null Het
Nucks1 T C 1: 131,846,771 (GRCm39) F16L probably damaging Het
Nus1 T C 10: 52,305,309 (GRCm39) S150P possibly damaging Het
Odad1 C T 7: 45,591,506 (GRCm39) R257* probably null Het
Oga A T 19: 45,746,461 (GRCm39) Y779* probably null Het
Or4c123 G T 2: 89,127,506 (GRCm39) T36K probably damaging Het
Or8b35 A T 9: 37,903,908 (GRCm39) Y40F probably benign Het
Pclo A G 5: 14,731,367 (GRCm39) T3290A unknown Het
Pign A T 1: 105,585,537 (GRCm39) F4Y probably benign Het
Rfx4 A G 10: 84,696,406 (GRCm39) N233D possibly damaging Het
Rpgrip1 A T 14: 52,397,652 (GRCm39) M1325L possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scaf11 T A 15: 96,315,001 (GRCm39) H1227L possibly damaging Het
Sec31b G T 19: 44,507,076 (GRCm39) P840T probably damaging Het
Slc16a9 T A 10: 70,118,958 (GRCm39) L426I probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 T C 13: 23,996,575 (GRCm39) S27P probably damaging Het
Tacc1 A G 8: 25,672,299 (GRCm39) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm39) R110C probably damaging Het
Trip12 T C 1: 84,735,152 (GRCm39) Y953C probably damaging Het
Trpm7 C A 2: 126,684,775 (GRCm39) probably null Het
Ush2a G A 1: 188,644,320 (GRCm39) V4561I probably benign Het
Vmn1r192 C T 13: 22,371,801 (GRCm39) V140I probably benign Het
Vmn2r66 A T 7: 84,656,026 (GRCm39) I330N probably damaging Het
Vmn2r99 T C 17: 19,599,531 (GRCm39) V405A probably damaging Het
Wdhd1 A C 14: 47,509,678 (GRCm39) V172G probably benign Het
Zfhx3 C T 8: 109,677,817 (GRCm39) R2956C possibly damaging Het
Zfp446 T C 7: 12,716,178 (GRCm39) L283P possibly damaging Het
Zfp82 T C 7: 29,756,591 (GRCm39) K164E probably damaging Het
Other mutations in Akap8l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Akap8l APN 17 32,552,071 (GRCm39) missense possibly damaging 0.82
IGL01603:Akap8l APN 17 32,564,327 (GRCm39) missense probably damaging 1.00
IGL02028:Akap8l APN 17 32,557,495 (GRCm39) splice site probably null
IGL02033:Akap8l APN 17 32,557,246 (GRCm39) missense probably damaging 1.00
IGL02301:Akap8l APN 17 32,551,900 (GRCm39) splice site probably benign
R1136:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1137:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1192:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1277:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1279:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1703:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1705:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1706:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1727:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1763:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1774:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1796:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R1954:Akap8l UTSW 17 32,555,710 (GRCm39) missense possibly damaging 0.74
R2072:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R2073:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R2074:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R2107:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R2108:Akap8l UTSW 17 32,551,457 (GRCm39) missense probably damaging 1.00
R2214:Akap8l UTSW 17 32,557,799 (GRCm39) critical splice acceptor site probably null
R2215:Akap8l UTSW 17 32,540,569 (GRCm39) missense possibly damaging 0.72
R2219:Akap8l UTSW 17 32,553,605 (GRCm39) missense probably benign 0.23
R2234:Akap8l UTSW 17 32,557,777 (GRCm39) missense probably damaging 1.00
R2871:Akap8l UTSW 17 32,557,416 (GRCm39) missense possibly damaging 0.84
R2871:Akap8l UTSW 17 32,557,416 (GRCm39) missense possibly damaging 0.84
R4273:Akap8l UTSW 17 32,540,905 (GRCm39) nonsense probably null
R4379:Akap8l UTSW 17 32,540,488 (GRCm39) unclassified probably benign
R5061:Akap8l UTSW 17 32,551,868 (GRCm39) missense probably damaging 1.00
R5337:Akap8l UTSW 17 32,555,368 (GRCm39) missense possibly damaging 0.71
R5579:Akap8l UTSW 17 32,540,916 (GRCm39) missense probably damaging 1.00
R5609:Akap8l UTSW 17 32,557,374 (GRCm39) missense probably damaging 1.00
R5667:Akap8l UTSW 17 32,557,266 (GRCm39) missense probably damaging 1.00
R5671:Akap8l UTSW 17 32,557,266 (GRCm39) missense probably damaging 1.00
R5747:Akap8l UTSW 17 32,564,352 (GRCm39) missense probably damaging 0.97
R6186:Akap8l UTSW 17 32,552,018 (GRCm39) missense probably benign 0.02
R6400:Akap8l UTSW 17 32,555,294 (GRCm39) missense probably damaging 0.99
R6482:Akap8l UTSW 17 32,564,370 (GRCm39) missense possibly damaging 0.94
R6712:Akap8l UTSW 17 32,551,862 (GRCm39) missense probably damaging 1.00
R7165:Akap8l UTSW 17 32,557,386 (GRCm39) missense probably damaging 0.99
R7485:Akap8l UTSW 17 32,554,545 (GRCm39) missense probably benign 0.03
R7729:Akap8l UTSW 17 32,552,068 (GRCm39) missense probably damaging 1.00
R9437:Akap8l UTSW 17 32,553,608 (GRCm39) missense probably benign 0.24
R9651:Akap8l UTSW 17 32,557,783 (GRCm39) missense probably damaging 1.00
R9652:Akap8l UTSW 17 32,557,783 (GRCm39) missense probably damaging 1.00
V5088:Akap8l UTSW 17 32,555,713 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCAAGGGTAAGCTAGTGCGC -3'
(R):5'- TTTCACTGACAACCCAGAGG -3'

Sequencing Primer
(F):5'- TAAGCTAGTGCGCAAGAGC -3'
(R):5'- CTGGCGCTCTGGATGAAG -3'
Posted On 2016-08-04