Incidental Mutation 'IGL02755:Alpk3'
ID 306395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock # IGL02755
Quality Score
Status
Chromosome 7
Chromosomal Location 81057600-81105612 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81093759 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1108 (E1108G)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000107348
AA Change: E1108G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: E1108G

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik T A 11: 11,589,358 N189I unknown Het
Adamts19 T A 18: 58,969,933 I682K probably benign Het
Adra1a G A 14: 66,727,661 V367I probably benign Het
Ccdc186 A T 19: 56,813,396 N96K probably benign Het
Ccnb1 A G 13: 100,781,660 Y160H possibly damaging Het
Cebpz A T 17: 78,931,330 V683E probably damaging Het
Cep104 A G 4: 153,996,959 H786R possibly damaging Het
Chd9 T C 8: 91,033,582 I1985T probably benign Het
Cntn2 T A 1: 132,529,302 T36S probably benign Het
Cntnap5c T C 17: 58,364,194 S1126P probably benign Het
Cpt2 A T 4: 107,907,775 V264E probably damaging Het
Degs2 T C 12: 108,692,583 T46A probably benign Het
Dip2c T C 13: 9,550,320 probably null Het
Dnaaf1 A G 8: 119,590,671 D313G probably damaging Het
Ephb3 T G 16: 21,221,698 D561E probably damaging Het
Eps15 A G 4: 109,329,698 T321A probably benign Het
Ercc6 A G 14: 32,575,748 probably benign Het
Gcn1l1 T A 5: 115,604,006 probably null Het
Gm28177 G A 1: 52,096,872 probably benign Het
Gucy2g C A 19: 55,210,354 V786F probably benign Het
H2-M3 T C 17: 37,271,022 V123A possibly damaging Het
Hmgxb3 T C 18: 61,172,188 K33E probably damaging Het
Ift22 T C 5: 136,911,786 W102R probably damaging Het
Lgi4 T C 7: 31,063,105 F44L probably damaging Het
Lingo3 T C 10: 80,836,009 E29G possibly damaging Het
Nf2 A G 11: 4,818,542 L109P probably damaging Het
Ntrk3 T C 7: 78,460,439 H349R probably benign Het
Olfr767 T A 10: 129,079,196 M256L probably benign Het
Otub1 T A 19: 7,206,259 M1L probably benign Het
Pkp3 A G 7: 141,088,405 probably null Het
Popdc3 C A 10: 45,315,218 H142N probably damaging Het
Pot1a A G 6: 25,771,613 F203S possibly damaging Het
Prdx5 A G 19: 6,909,595 V8A probably benign Het
Rabgap1 T C 2: 37,537,314 Y636H probably damaging Het
Rad51d A T 11: 82,881,632 I236N probably benign Het
Reep3 G T 10: 67,021,877 T145K possibly damaging Het
Samd3 G T 10: 26,244,577 L156F probably damaging Het
Sh3bp5l A G 11: 58,338,003 T101A probably benign Het
Slc3a1 T C 17: 85,037,177 V257A probably damaging Het
Sptbn1 A G 11: 30,142,247 V506A probably damaging Het
Stab1 A T 14: 31,139,638 S2471T probably benign Het
Vmn2r85 T C 10: 130,425,512 T319A probably damaging Het
Vmn2r94 C T 17: 18,244,499 V510I probably benign Het
Wscd2 T A 5: 113,574,031 M337K possibly damaging Het
Zfp866 A G 8: 69,766,640 probably null 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
IGL02340:Alpk3 APN 7 81078507 missense probably benign 0.03
IGL02517:Alpk3 APN 7 81077895 missense probably benign 0.00
IGL02725:Alpk3 APN 7 81093610 missense possibly damaging 0.91
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
R7230:Alpk3 UTSW 7 81093294 missense probably damaging 1.00
R7266:Alpk3 UTSW 7 81092580 missense possibly damaging 0.55
R7271:Alpk3 UTSW 7 81078454 missense possibly damaging 0.92
R7402:Alpk3 UTSW 7 81076912 missense probably benign 0.29
R7411:Alpk3 UTSW 7 81092852 missense probably benign 0.11
R7454:Alpk3 UTSW 7 81078562 missense probably benign 0.02
R7468:Alpk3 UTSW 7 81100998 nonsense probably null
R7940:Alpk3 UTSW 7 81093945 missense probably damaging 1.00
R8157:Alpk3 UTSW 7 81093722 missense probably benign 0.00
R8246:Alpk3 UTSW 7 81092776 missense probably benign 0.00
R8357:Alpk3 UTSW 7 81093318 missense probably damaging 1.00
R8444:Alpk3 UTSW 7 81057720 missense probably benign 0.08
R8457:Alpk3 UTSW 7 81093318 missense probably damaging 1.00
R8775:Alpk3 UTSW 7 81077850 missense probably benign 0.00
R8775-TAIL:Alpk3 UTSW 7 81077850 missense probably benign 0.00
R8794:Alpk3 UTSW 7 81057655 missense unknown
R8982:Alpk3 UTSW 7 81099002 missense probably damaging 1.00
R9259:Alpk3 UTSW 7 81093554 missense probably damaging 1.00
RF034:Alpk3 UTSW 7 81092414 small deletion probably benign
RF057:Alpk3 UTSW 7 81092417 frame shift probably null
X0022:Alpk3 UTSW 7 81093897 missense probably damaging 0.96
Z1176:Alpk3 UTSW 7 81078626 missense probably benign 0.00
Posted On 2015-04-16