Incidental Mutation 'R1727:Akap8l'
ID 198281
Institutional Source Beutler Lab
Gene Symbol Akap8l
Ensembl Gene ENSMUSG00000002625
Gene Name A kinase anchor protein 8-like
Synonyms Nakap95
MMRRC Submission 039759-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R1727 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32540398-32569581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32551457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 511 (R511H)
Ref Sequence ENSEMBL: ENSMUSP00000051389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050214]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050214
AA Change: R511H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: R511H

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
Meta Mutation Damage Score 0.5342 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency 96% (98/102)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,565,472 (GRCm39) probably benign Het
Ak2 C T 4: 128,901,556 (GRCm39) P159L probably damaging Het
Akr1a1 A G 4: 116,498,248 (GRCm39) L99P probably damaging Het
Anxa8 T A 14: 33,811,547 (GRCm39) M34K probably damaging Het
Axl T G 7: 25,460,191 (GRCm39) D767A possibly damaging Het
B430305J03Rik A G 3: 61,271,299 (GRCm39) probably benign Het
Cdh24 A T 14: 54,876,095 (GRCm39) Y182* probably null Het
Cdk5rap2 T C 4: 70,190,916 (GRCm39) D1043G probably benign Het
Cdk5rap2 A T 4: 70,208,209 (GRCm39) S746T possibly damaging Het
Cep120 T C 18: 53,860,801 (GRCm39) M210V probably benign Het
Chga C T 12: 102,527,696 (GRCm39) H117Y possibly damaging Het
Cnga4 T C 7: 105,054,961 (GRCm39) W79R probably damaging Het
Cntnap5b C T 1: 100,141,469 (GRCm39) T575I possibly damaging Het
Col6a3 T A 1: 90,724,296 (GRCm39) probably null Het
Copz2 T C 11: 96,744,301 (GRCm39) V71A probably benign Het
Dennd3 G T 15: 73,436,977 (GRCm39) R1068L possibly damaging Het
Dhrs7 T C 12: 72,706,238 (GRCm39) T56A probably damaging Het
Dnah17 G A 11: 117,961,315 (GRCm39) T2557I probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dynlt2b T A 16: 32,241,751 (GRCm39) M78K probably benign Het
Eif3b T C 5: 140,411,077 (GRCm39) I176T probably damaging Het
Eif4b T A 15: 101,998,497 (GRCm39) D392E possibly damaging Het
Eif4h T C 5: 134,668,134 (GRCm39) Y7C probably damaging Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Epg5 T A 18: 78,059,030 (GRCm39) V1928E possibly damaging Het
Erbin T A 13: 103,964,476 (GRCm39) E1222V probably benign Het
Fhdc1 T A 3: 84,353,483 (GRCm39) I581F possibly damaging Het
Fhip2b C A 14: 70,831,438 (GRCm39) G32V probably damaging Het
Fstl4 A C 11: 52,959,478 (GRCm39) Q173P probably damaging Het
Gm266 A G 12: 111,451,913 (GRCm39) F98L possibly damaging Het
Gsdmc2 T C 15: 63,721,628 (GRCm39) probably benign Het
Gtf2h3 A G 5: 124,728,419 (GRCm39) Q156R probably benign Het
H2-T23 T C 17: 36,342,545 (GRCm39) T198A possibly damaging Het
Il1r1 C A 1: 40,332,424 (GRCm39) A68E probably benign Het
Kcna7 A T 7: 45,058,930 (GRCm39) I406F possibly damaging Het
Lbr A G 1: 181,647,481 (GRCm39) I432T probably benign Het
Lnx1 A T 5: 74,768,577 (GRCm39) probably null Het
Lrrcc1 T A 3: 14,602,423 (GRCm39) I50N probably damaging Het
Lss T C 10: 76,375,678 (GRCm39) V237A possibly damaging Het
Mcm10 A G 2: 5,011,336 (GRCm39) F212L probably benign Het
Methig1 A C 15: 100,251,130 (GRCm39) I14L probably benign Het
Mrpl41 A T 2: 24,864,636 (GRCm39) V55E probably damaging Het
Mtfp1 C A 11: 4,043,982 (GRCm39) D83Y probably damaging Het
Myh1 T A 11: 67,101,292 (GRCm39) probably benign Het
Myo1e T C 9: 70,283,806 (GRCm39) F834S possibly damaging Het
Ndufs7 A T 10: 80,091,853 (GRCm39) probably benign Het
Nlrp4e T A 7: 23,020,420 (GRCm39) N302K probably benign Het
Nt5e T A 9: 88,210,082 (GRCm39) M115K possibly damaging Het
Nup153 A T 13: 46,847,261 (GRCm39) C723S probably damaging Het
Obox6 G A 7: 15,568,502 (GRCm39) P125S probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2t48 A T 11: 58,420,342 (GRCm39) S157T possibly damaging Het
Or52n3 C T 7: 104,530,721 (GRCm39) T269I probably benign Het
Or5an11 T G 19: 12,246,365 (GRCm39) I257S possibly damaging Het
Or8i2 A G 2: 86,852,607 (GRCm39) F94L probably damaging Het
Pcdh1 A C 18: 38,336,085 (GRCm39) Y44* probably null Het
Pcdhb6 A T 18: 37,467,640 (GRCm39) D187V probably damaging Het
Pclo A G 5: 14,727,001 (GRCm39) probably benign Het
Pdcl3 T A 1: 39,034,836 (GRCm39) I80K possibly damaging Het
Pde12 A T 14: 26,390,022 (GRCm39) V229E probably benign Het
Plcg1 A G 2: 160,590,008 (GRCm39) E142G probably benign Het
Plxnb1 A G 9: 108,930,125 (GRCm39) probably null Het
Pnpla1 A G 17: 29,097,508 (GRCm39) I225V probably benign Het
Polr2f A G 15: 79,028,805 (GRCm39) probably benign Het
Prob1 A G 18: 35,787,364 (GRCm39) S297P possibly damaging Het
Qsox2 A C 2: 26,110,970 (GRCm39) S132A probably benign Het
Rab19 T A 6: 39,365,095 (GRCm39) Y118* probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptn T C 3: 93,304,445 (GRCm39) S593P possibly damaging Het
Septin11 T C 5: 93,304,783 (GRCm39) I200T probably damaging Het
Slc10a4 T A 5: 73,173,491 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,422,324 (GRCm39) I1130F probably benign Het
Slit3 C T 11: 35,520,659 (GRCm39) R599C probably damaging Het
Snx19 C T 9: 30,344,662 (GRCm39) P622L probably damaging Het
Sspo T C 6: 48,471,782 (GRCm39) L50P probably damaging Het
St8sia1 A T 6: 142,822,453 (GRCm39) C137S probably damaging Het
Syt11 G C 3: 88,669,259 (GRCm39) T211S possibly damaging Het
Tanc1 A C 2: 59,621,153 (GRCm39) Y324S probably damaging Het
Tas2r136 T C 6: 132,754,753 (GRCm39) I125V possibly damaging Het
Tbc1d15 A T 10: 115,046,130 (GRCm39) W458R probably damaging Het
Tecta G T 9: 42,270,597 (GRCm39) T1237N probably damaging Het
Tet2 T A 3: 133,193,051 (GRCm39) D461V probably damaging Het
Tmco3 G A 8: 13,368,866 (GRCm39) V573M possibly damaging Het
Tmem212 A T 3: 27,938,961 (GRCm39) M175K probably benign Het
Traf6 A G 2: 101,527,084 (GRCm39) H278R probably benign Het
Trerf1 T A 17: 47,652,092 (GRCm39) noncoding transcript Het
Ttn A C 2: 76,576,988 (GRCm39) V24635G probably damaging Het
Ush1c A T 7: 45,858,655 (GRCm39) D544E probably damaging Het
Usp47 C T 7: 111,685,307 (GRCm39) T586M probably damaging Het
Vmn2r1 T A 3: 63,989,163 (GRCm39) M34K probably benign Het
Vmn2r102 T A 17: 19,897,770 (GRCm39) W262R probably damaging Het
Wasf3 C T 5: 146,403,769 (GRCm39) A293V probably benign Het
Xrn2 A G 2: 146,903,436 (GRCm39) Q812R probably benign Het
Zc3h7b T C 15: 81,652,230 (GRCm39) I10T probably damaging Het
Zfp747 A T 7: 126,973,249 (GRCm39) L307Q probably damaging Het
Zfp777 A T 6: 48,020,824 (GRCm39) F266Y 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
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
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'- TGCATCCTTGTACACCAGGCAAC -3'
(R):5'- TTTGGCACCTGAGACTGTGATGAC -3'

Sequencing Primer
(F):5'- agccttgaacttacagagacc -3'
(R):5'- AGACTGTGATGACTGCTTTCTTC -3'
Posted On 2014-05-23