Incidental Mutation 'IGL02340:Alpk3'
ID289040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Namealpha-kinase 3
SynonymsMidori
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.628) question?
Stock #IGL02340
Quality Score
Status
Chromosome7
Chromosomal Location81057600-81105612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81078507 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 462 (T462A)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
Predicted Effect probably benign
Transcript: ENSMUST00000107348
AA Change: T462A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: T462A

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
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T A 7: 27,629,399 I182N probably damaging Het
Amz1 A G 5: 140,752,259 R425G probably damaging Het
Aoc2 A G 11: 101,326,375 E428G probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Chchd6 A T 6: 89,419,780 H216Q probably damaging Het
Chl1 A G 6: 103,698,125 Y591C probably damaging Het
Cln8 T C 8: 14,895,178 L164S probably damaging Het
Dscaml1 T C 9: 45,670,176 I431T possibly damaging Het
Fam234b T C 6: 135,231,661 L524P probably damaging Het
Fmo1 T C 1: 162,832,990 N410S probably benign Het
Ftsj3 G A 11: 106,253,146 R251* probably null Het
Greb1l A T 18: 10,515,200 D555V probably damaging Het
Hcar1 G T 5: 123,879,072 H185Q probably damaging Het
Kcnj12 G A 11: 61,069,493 V206I probably benign Het
Lamc3 G A 2: 31,918,457 G742S probably damaging Het
Lipg T C 18: 74,960,875 probably null Het
Ltbp2 A G 12: 84,792,955 probably null Het
Mcm3ap T G 10: 76,496,552 Y1234* probably null Het
Myh6 T A 14: 54,957,155 D719V possibly damaging Het
Myo9b A G 8: 71,291,045 N250S probably damaging Het
Notch2 G A 3: 98,147,336 W2438* probably null Het
Nphp1 G A 2: 127,780,067 Q47* probably null Het
Nptx2 T C 5: 144,556,246 L381P probably damaging Het
Nrxn3 A G 12: 90,204,628 N911S possibly damaging Het
Olfr1176 T C 2: 88,339,562 probably benign Het
Olfr418 A T 1: 173,270,405 I77F probably benign Het
P4ha1 T A 10: 59,352,201 F260Y probably benign Het
Pitpnm2 T C 5: 124,130,613 D504G probably damaging Het
Prss54 A G 8: 95,565,609 V114A probably benign Het
Ptprc G A 1: 138,071,219 T1031M probably damaging Het
Rtf2 T C 2: 172,468,591 probably benign Het
Ryr3 A G 2: 112,947,004 probably benign Het
Slc14a2 C T 18: 78,163,126 E492K probably damaging Het
Slc9a3r1 A G 11: 115,180,032 E270G probably benign Het
Stab1 G T 14: 31,140,410 N2322K probably damaging Het
Thsd7b A G 1: 130,159,632 N1162S probably benign Het
Tmprss11b T C 5: 86,662,231 I297V probably benign Het
Tnn T C 1: 160,145,205 N276D probably benign Het
Trhde A T 10: 114,592,213 probably benign Het
Vmn1r115 T A 7: 20,844,528 H153L possibly damaging Het
Vmn1r203 T A 13: 22,524,827 C259* probably null Het
Xpot T A 10: 121,615,204 E97V probably damaging Het
Zbtb2 T C 10: 4,368,712 D438G probably damaging Het
Other mutations in Alpk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Alpk3 APN 7 81078009 missense possibly damaging 0.95
IGL00472:Alpk3 APN 7 81095653 splice site probably benign
IGL01732:Alpk3 APN 7 81057642 missense unknown
IGL01750:Alpk3 APN 7 81092282 missense probably damaging 1.00
IGL01812:Alpk3 APN 7 81100202 missense probably damaging 1.00
IGL02224:Alpk3 APN 7 81076868 splice site probably benign
IGL02292:Alpk3 APN 7 81077905 missense possibly damaging 0.46
IGL02517:Alpk3 APN 7 81077895 missense probably benign 0.00
IGL02725:Alpk3 APN 7 81093610 missense possibly damaging 0.91
IGL02755:Alpk3 APN 7 81093759 missense possibly damaging 0.71
IGL03035:Alpk3 APN 7 81078604 missense probably benign 0.00
IGL03102:Alpk3 APN 7 81095056 critical splice donor site probably null
IGL03153:Alpk3 APN 7 81093395 missense probably benign 0.00
IGL03255:Alpk3 APN 7 81092562 missense probably benign 0.01
IGL03367:Alpk3 APN 7 81094990 missense probably benign 0.01
FR4304:Alpk3 UTSW 7 81077762 small insertion probably benign
FR4737:Alpk3 UTSW 7 81077762 small insertion probably benign
IGL03097:Alpk3 UTSW 7 81093909 missense probably benign 0.00
R0092:Alpk3 UTSW 7 81092553 missense probably benign
R0254:Alpk3 UTSW 7 81076974 missense probably benign 0.43
R0310:Alpk3 UTSW 7 81078610 missense possibly damaging 0.61
R0325:Alpk3 UTSW 7 81067953 missense possibly damaging 0.58
R0387:Alpk3 UTSW 7 81104227 missense possibly damaging 0.93
R0971:Alpk3 UTSW 7 81092579 missense possibly damaging 0.55
R1078:Alpk3 UTSW 7 81078600 missense probably benign
R1146:Alpk3 UTSW 7 81077595 missense probably damaging 0.99
R1146:Alpk3 UTSW 7 81077595 missense probably damaging 0.99
R1168:Alpk3 UTSW 7 81103357 missense probably damaging 1.00
R1306:Alpk3 UTSW 7 81093873 missense probably damaging 1.00
R1822:Alpk3 UTSW 7 81076931 nonsense probably null
R2173:Alpk3 UTSW 7 81076900 missense probably damaging 1.00
R2350:Alpk3 UTSW 7 81094970 missense probably damaging 1.00
R2414:Alpk3 UTSW 7 81092753 missense probably benign 0.02
R2417:Alpk3 UTSW 7 81092753 missense probably benign 0.02
R2885:Alpk3 UTSW 7 81100192 missense probably damaging 1.00
R3004:Alpk3 UTSW 7 81103355 nonsense probably null
R3796:Alpk3 UTSW 7 81092753 missense probably benign 0.02
R3797:Alpk3 UTSW 7 81092753 missense probably benign 0.02
R3798:Alpk3 UTSW 7 81092753 missense probably benign 0.02
R3799:Alpk3 UTSW 7 81092753 missense probably benign 0.02
R3894:Alpk3 UTSW 7 81078390 missense possibly damaging 0.93
R4395:Alpk3 UTSW 7 81094955 missense probably damaging 1.00
R4761:Alpk3 UTSW 7 81104168 missense probably damaging 0.99
R5505:Alpk3 UTSW 7 81078561 missense possibly damaging 0.87
R5540:Alpk3 UTSW 7 81095436 missense probably damaging 1.00
R5770:Alpk3 UTSW 7 81078562 missense probably benign 0.02
R5941:Alpk3 UTSW 7 81078653 missense probably damaging 1.00
R5964:Alpk3 UTSW 7 81092260 missense possibly damaging 0.88
R6036:Alpk3 UTSW 7 81093257 missense probably benign 0.34
R6036:Alpk3 UTSW 7 81093257 missense probably benign 0.34
R6066:Alpk3 UTSW 7 81076950 missense possibly damaging 0.89
R6517:Alpk3 UTSW 7 81078579 missense possibly damaging 0.54
R6578:Alpk3 UTSW 7 81078684 missense probably benign 0.00
X0022:Alpk3 UTSW 7 81093897 missense probably damaging 0.96
Posted On2015-04-16