Incidental Mutation 'R5671:Akap8l'
ID 442643
Institutional Source Beutler Lab
Gene Symbol Akap8l
Ensembl Gene ENSMUSG00000002625
Gene Name A kinase anchor protein 8-like
Synonyms Nakap95
MMRRC Submission 043314-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R5671 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32540398-32569581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32557266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 115 (Y115C)
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: Y115C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625
AA Change: Y115C

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 0.0870 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Alms1 T A 6: 85,606,190 (GRCm39) N2613K possibly damaging Het
Antxr1 C T 6: 87,194,255 (GRCm39) probably null Het
Ap3b1 A T 13: 94,664,765 (GRCm39) R901S unknown Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Cdx1 C T 18: 61,152,971 (GRCm39) V212I probably benign Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clec14a T C 12: 58,314,612 (GRCm39) I337V probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Golga7 C T 8: 23,740,360 (GRCm39) A57T probably damaging Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr141b A G 13: 19,913,465 (GRCm39) noncoding transcript Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Igkv9-120 G A 6: 68,027,257 (GRCm39) W57* probably null Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nhlrc1 A G 13: 47,167,193 (GRCm39) F355L probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Or5b21 A T 19: 12,839,171 (GRCm39) T11S probably benign Het
Pcsk1 A G 13: 75,246,026 (GRCm39) T135A possibly damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rbbp8 A G 18: 11,875,699 (GRCm39) S871G probably benign Het
Rhoj A T 12: 75,440,743 (GRCm39) I135F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Ska1 G T 18: 74,330,067 (GRCm39) D224E probably damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a28 A T 19: 8,108,795 (GRCm39) C116S probably damaging Het
Synpo T C 18: 60,729,022 (GRCm39) D1060G probably damaging Het
Tectb T C 19: 55,181,059 (GRCm39) S310P probably benign Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Tpo A G 12: 30,169,490 (GRCm39) S82P probably benign Het
Ttyh3 T A 5: 140,617,307 (GRCm39) M321L probably benign Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Vmn2r11 A G 5: 109,202,772 (GRCm39) W102R probably benign Het
Vps13a G A 19: 16,692,464 (GRCm39) H817Y probably benign Het
Vps51 A G 19: 6,118,224 (GRCm39) V757A probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Zfp423 T C 8: 88,508,955 (GRCm39) N442S 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
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
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'- ACAGGATGAGTTGGCCATCAG -3'
(R):5'- TCTCCCTAACTGCAGGCTAC -3'

Sequencing Primer
(F):5'- CCATCAGGGGCTAGCAAG -3'
(R):5'- CTAACTGCAGGCTACGAGAACTATG -3'
Posted On 2016-11-09