Incidental Mutation 'R6036:Alpk3'
ID 479209
Institutional Source Beutler Lab
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R6036 (G1)
Quality Score 163.009
Status Not validated
Chromosome 7
Chromosomal Location 80707348-80755360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80743005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 941 (V941M)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107348
AA Change: V941M

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: V941M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151115
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably 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
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
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 2017-06-26