Incidental Mutation 'R2214:Akap8l'
ID 241049
Institutional Source Beutler Lab
Gene Symbol Akap8l
Ensembl Gene ENSMUSG00000002625
Gene Name A kinase anchor protein 8-like
Synonyms Nakap95
MMRRC Submission 040216-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R2214 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32540398-32569581 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 32557799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050214]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000050214
SMART Domains Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,926,946 (GRCm39) Y516C probably benign Het
Adam22 C T 5: 8,186,805 (GRCm39) probably null Het
Casr T C 16: 36,336,120 (GRCm39) Y63C probably damaging Het
Ccdc178 T C 18: 22,048,047 (GRCm39) D781G possibly damaging Het
Col9a1 C A 1: 24,247,283 (GRCm39) P168Q probably damaging Het
Dnm2 T C 9: 21,397,019 (GRCm39) probably null Het
Dst C T 1: 34,310,482 (GRCm39) T6325M probably damaging Het
Ercc4 C A 16: 12,927,888 (GRCm39) D19E probably damaging Het
Gm1110 C A 9: 26,813,786 (GRCm39) V198L probably benign Het
Gm8674 T A 13: 50,055,396 (GRCm39) noncoding transcript Het
Grm7 A T 6: 111,335,958 (GRCm39) I790F probably damaging Het
Habp2 A G 19: 56,306,249 (GRCm39) D445G possibly damaging Het
Kat7 G A 11: 95,166,631 (GRCm39) T517I probably damaging Het
Kbtbd11 T A 8: 15,079,178 (GRCm39) D592E possibly damaging Het
Lgals8 T A 13: 12,469,713 (GRCm39) Q82L probably benign Het
Lmtk3 A G 7: 45,444,277 (GRCm39) probably benign Het
Map2 A T 1: 66,459,345 (GRCm39) D1530V probably damaging Het
Map2k6 G A 11: 110,387,167 (GRCm39) V180I probably damaging Het
Map3k5 T A 10: 19,902,035 (GRCm39) probably null Het
Mtor A G 4: 148,623,327 (GRCm39) E2059G probably benign Het
Myh10 A G 11: 68,673,953 (GRCm39) D660G probably damaging Het
Myo16 T A 8: 10,488,803 (GRCm39) V658E probably damaging Het
Nckap5 A T 1: 125,953,487 (GRCm39) S1090T possibly damaging Het
Nhlrc3 T C 3: 53,363,875 (GRCm39) H217R probably damaging Het
Ntrk3 T A 7: 78,166,520 (GRCm39) I118F probably damaging Het
Or14a259 T A 7: 86,013,414 (GRCm39) I44F probably benign Het
Or1e29 A T 11: 73,667,655 (GRCm39) L166* probably null Het
Or4p20 C T 2: 88,253,461 (GRCm39) V303M probably benign Het
Paxip1 T C 5: 27,947,499 (GRCm39) Y1053C probably damaging Het
Pfkfb4 T A 9: 108,834,677 (GRCm39) F117I probably benign Het
Pp2d1 T C 17: 53,822,424 (GRCm39) Y214C probably benign Het
Prr7 C A 13: 55,620,613 (GRCm39) S207* probably null Het
Ptprh T A 7: 4,555,921 (GRCm39) Q715L possibly damaging Het
Rasgrp1 A T 2: 117,115,646 (GRCm39) D647E probably damaging Het
Rnf20 T A 4: 49,648,344 (GRCm39) M384K possibly damaging Het
Rps6kb1 A T 11: 86,424,896 (GRCm39) C37S possibly damaging Het
Serpinb9f C A 13: 33,518,592 (GRCm39) T364K probably benign Het
Sorbs1 C T 19: 40,285,075 (GRCm39) A641T probably damaging Het
Srrm2 T C 17: 24,035,719 (GRCm39) probably benign Het
Stag3 C T 5: 138,299,528 (GRCm39) S849L possibly damaging Het
Syt15 A T 14: 33,944,989 (GRCm39) S179C probably damaging Het
Tapbp T C 17: 34,139,300 (GRCm39) F90L possibly damaging Het
Timm23 A T 14: 31,920,944 (GRCm39) D49E probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem174 A C 13: 98,773,757 (GRCm39) S24R possibly damaging Het
Tmem63a A G 1: 180,788,679 (GRCm39) S339G probably benign Het
Tsc22d2 A G 3: 58,323,627 (GRCm39) Y173C probably damaging Het
Ubap2 A G 4: 41,199,714 (GRCm39) probably null Het
Upp1 T A 11: 9,086,033 (GRCm39) V290E probably benign Het
Uqcc4 T C 17: 25,403,699 (GRCm39) V13A probably benign Het
Usp17lb A T 7: 104,490,639 (GRCm39) M96K probably benign Het
Wdr20rt A G 12: 65,274,187 (GRCm39) E449G probably damaging Het
Zkscan8 A T 13: 21,705,082 (GRCm39) S286T probably benign 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
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
R5377:Akap8l UTSW 17 32,540,485 (GRCm39) unclassified probably benign
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'- AGGCCCTTCTCACTCTAAGG -3'
(R):5'- TGCTAGGCAGACACTGTAGC -3'

Sequencing Primer
(F):5'- GCCCTTCTCACTCTAAGGAGGATATC -3'
(R):5'- GGGAAAGCCAACTTTTAAGTCC -3'
Posted On 2014-10-15