Incidental Mutation 'R1146:Alpk3'
ID 102434
Institutional Source Beutler Lab
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R1146 (G1)
Quality Score 220
Status Not validated
Chromosome 7
Chromosomal Location 80707348-80755360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80727343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 158 (K158E)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107348
AA Change: K158E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: K158E

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 48 62 N/A INTRINSIC
IGc2 89 159 2.78e-11 SMART
low complexity region 183 192 N/A INTRINSIC
low complexity region 400 427 N/A INTRINSIC
low complexity region 514 532 N/A INTRINSIC
low complexity region 586 598 N/A INTRINSIC
low complexity region 958 971 N/A INTRINSIC
low complexity region 1048 1058 N/A INTRINSIC
low complexity region 1076 1087 N/A INTRINSIC
IG_like 1264 1330 5.73e-2 SMART
low complexity region 1350 1359 N/A INTRINSIC
Alpha_kinase 1395 1592 1.17e-44 SMART
Meta Mutation Damage Score 0.4145 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.6%
  • 10x: 85.8%
  • 20x: 55.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm39) I53T probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Msh2 C A 17: 87,987,488 (GRCm39) D209E probably benign Het
Nsf G A 11: 103,719,364 (GRCm39) T646I probably damaging Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tor1aip2 T C 1: 155,940,483 (GRCm39) V263A possibly damaging Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Usp50 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly damaging Het
Other mutations in Alpk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Alpk3 APN 7 80,727,757 (GRCm39) missense possibly damaging 0.95
IGL00472:Alpk3 APN 7 80,745,401 (GRCm39) splice site probably benign
IGL01732:Alpk3 APN 7 80,707,390 (GRCm39) missense unknown
IGL01750:Alpk3 APN 7 80,742,030 (GRCm39) missense probably damaging 1.00
IGL01812:Alpk3 APN 7 80,749,950 (GRCm39) missense probably damaging 1.00
IGL02224:Alpk3 APN 7 80,726,616 (GRCm39) splice site probably benign
IGL02292:Alpk3 APN 7 80,727,653 (GRCm39) missense possibly damaging 0.46
IGL02340:Alpk3 APN 7 80,728,255 (GRCm39) missense probably benign 0.03
IGL02517:Alpk3 APN 7 80,727,643 (GRCm39) missense probably benign 0.00
IGL02725:Alpk3 APN 7 80,743,358 (GRCm39) missense possibly damaging 0.91
IGL02755:Alpk3 APN 7 80,743,507 (GRCm39) missense possibly damaging 0.71
IGL03035:Alpk3 APN 7 80,728,352 (GRCm39) missense probably benign 0.00
IGL03102:Alpk3 APN 7 80,744,804 (GRCm39) critical splice donor site probably null
IGL03153:Alpk3 APN 7 80,743,143 (GRCm39) missense probably benign 0.00
IGL03255:Alpk3 APN 7 80,742,310 (GRCm39) missense probably benign 0.01
IGL03367:Alpk3 APN 7 80,744,738 (GRCm39) missense probably benign 0.01
FR4304:Alpk3 UTSW 7 80,727,510 (GRCm39) small insertion probably benign
FR4737:Alpk3 UTSW 7 80,727,510 (GRCm39) small insertion probably benign
IGL03097:Alpk3 UTSW 7 80,743,657 (GRCm39) missense probably benign 0.00
R0092:Alpk3 UTSW 7 80,742,301 (GRCm39) missense probably benign
R0254:Alpk3 UTSW 7 80,726,722 (GRCm39) missense probably benign 0.43
R0310:Alpk3 UTSW 7 80,728,358 (GRCm39) missense possibly damaging 0.61
R0325:Alpk3 UTSW 7 80,717,701 (GRCm39) missense possibly damaging 0.58
R0387:Alpk3 UTSW 7 80,753,975 (GRCm39) missense possibly damaging 0.93
R0971:Alpk3 UTSW 7 80,742,327 (GRCm39) missense possibly damaging 0.55
R1078:Alpk3 UTSW 7 80,728,348 (GRCm39) missense probably benign
R1146:Alpk3 UTSW 7 80,727,343 (GRCm39) missense probably damaging 0.99
R1168:Alpk3 UTSW 7 80,753,105 (GRCm39) missense probably damaging 1.00
R1306:Alpk3 UTSW 7 80,743,621 (GRCm39) missense probably damaging 1.00
R1822:Alpk3 UTSW 7 80,726,679 (GRCm39) nonsense probably null
R2173:Alpk3 UTSW 7 80,726,648 (GRCm39) missense probably damaging 1.00
R2350:Alpk3 UTSW 7 80,744,718 (GRCm39) missense probably damaging 1.00
R2414:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R2417:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R2885:Alpk3 UTSW 7 80,749,940 (GRCm39) missense probably damaging 1.00
R3004:Alpk3 UTSW 7 80,753,103 (GRCm39) nonsense probably null
R3796:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3797:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3798:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3799:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3894:Alpk3 UTSW 7 80,728,138 (GRCm39) missense possibly damaging 0.93
R4395:Alpk3 UTSW 7 80,744,703 (GRCm39) missense probably damaging 1.00
R4761:Alpk3 UTSW 7 80,753,916 (GRCm39) missense probably damaging 0.99
R5505:Alpk3 UTSW 7 80,728,309 (GRCm39) missense possibly damaging 0.87
R5540:Alpk3 UTSW 7 80,745,184 (GRCm39) missense probably damaging 1.00
R5770:Alpk3 UTSW 7 80,728,310 (GRCm39) missense probably benign 0.02
R5941:Alpk3 UTSW 7 80,728,401 (GRCm39) missense probably damaging 1.00
R5964:Alpk3 UTSW 7 80,742,008 (GRCm39) missense possibly damaging 0.88
R6036:Alpk3 UTSW 7 80,743,005 (GRCm39) missense probably benign 0.34
R6036:Alpk3 UTSW 7 80,743,005 (GRCm39) missense probably benign 0.34
R6066:Alpk3 UTSW 7 80,726,698 (GRCm39) missense possibly damaging 0.89
R6517:Alpk3 UTSW 7 80,728,327 (GRCm39) missense possibly damaging 0.54
R6578:Alpk3 UTSW 7 80,728,432 (GRCm39) missense probably benign 0.00
R7230:Alpk3 UTSW 7 80,743,042 (GRCm39) missense probably damaging 1.00
R7266:Alpk3 UTSW 7 80,742,328 (GRCm39) missense possibly damaging 0.55
R7271:Alpk3 UTSW 7 80,728,202 (GRCm39) missense possibly damaging 0.92
R7402:Alpk3 UTSW 7 80,726,660 (GRCm39) missense probably benign 0.29
R7411:Alpk3 UTSW 7 80,742,600 (GRCm39) missense probably benign 0.11
R7454:Alpk3 UTSW 7 80,728,310 (GRCm39) missense probably benign 0.02
R7468:Alpk3 UTSW 7 80,750,746 (GRCm39) nonsense probably null
R7940:Alpk3 UTSW 7 80,743,693 (GRCm39) missense probably damaging 1.00
R8157:Alpk3 UTSW 7 80,743,470 (GRCm39) missense probably benign 0.00
R8246:Alpk3 UTSW 7 80,742,524 (GRCm39) missense probably benign 0.00
R8357:Alpk3 UTSW 7 80,743,066 (GRCm39) missense probably damaging 1.00
R8444:Alpk3 UTSW 7 80,707,468 (GRCm39) missense probably benign 0.08
R8457:Alpk3 UTSW 7 80,743,066 (GRCm39) missense probably damaging 1.00
R8775:Alpk3 UTSW 7 80,727,598 (GRCm39) missense probably benign 0.00
R8775-TAIL:Alpk3 UTSW 7 80,727,598 (GRCm39) missense probably benign 0.00
R8794:Alpk3 UTSW 7 80,707,403 (GRCm39) missense unknown
R8982:Alpk3 UTSW 7 80,748,750 (GRCm39) missense probably damaging 1.00
R9259:Alpk3 UTSW 7 80,743,302 (GRCm39) missense probably damaging 1.00
R9343:Alpk3 UTSW 7 80,742,079 (GRCm39) missense probably benign 0.27
R9567:Alpk3 UTSW 7 80,742,687 (GRCm39) missense possibly damaging 0.55
R9792:Alpk3 UTSW 7 80,750,881 (GRCm39) critical splice donor site probably null
R9793:Alpk3 UTSW 7 80,750,881 (GRCm39) critical splice donor site probably null
R9798:Alpk3 UTSW 7 80,742,400 (GRCm39) missense probably benign 0.02
RF034:Alpk3 UTSW 7 80,742,162 (GRCm39) small deletion probably benign
RF057:Alpk3 UTSW 7 80,742,165 (GRCm39) frame shift probably null
X0022:Alpk3 UTSW 7 80,743,645 (GRCm39) missense probably damaging 0.96
Z1176:Alpk3 UTSW 7 80,728,374 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-01-15