Incidental Mutation 'IGL03367:Alpk3'
ID420136
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: 0.647) question?
Stock #IGL03367
Quality Score
Status
Chromosome7
Chromosomal Location81057600-81105612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81094990 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 1278 (I1278V)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
Predicted Effect probably benign
Transcript: ENSMUST00000107348
AA Change: I1278V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: I1278V

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik A G 9: 58,499,098 H97R probably damaging Het
Abcc5 A T 16: 20,392,811 probably benign Het
Adra1a G A 14: 66,637,989 V138I possibly damaging Het
Asb6 A T 2: 30,824,679 I185N possibly damaging Het
Atg9a A G 1: 75,187,957 V121A probably benign Het
Cdc42bpb A G 12: 111,336,159 Y155H probably damaging Het
Ceacam15 A C 7: 16,675,587 S8A possibly damaging Het
Cep170b T A 12: 112,737,238 D615E probably benign Het
Cntn6 G T 6: 104,804,338 G462C probably damaging Het
Col8a2 A G 4: 126,312,198 D667G probably damaging Het
Cyp2c29 A G 19: 39,329,215 K382E probably damaging Het
Dgkd T C 1: 87,940,308 probably null Het
Dkk2 C T 3: 132,178,077 T246I probably damaging Het
Dnah5 T C 15: 28,234,327 L294P possibly damaging Het
Erbb2 G T 11: 98,422,875 probably null Het
Fn1 A G 1: 71,597,553 F2147L probably benign Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm13088 C T 4: 143,655,623 V168I possibly damaging Het
Gnrhr C T 5: 86,182,331 V277I probably benign Het
H2-T10 T A 17: 36,120,393 E129V possibly damaging Het
Hmgcr T C 13: 96,665,853 T108A probably damaging Het
Hnrnph3 A T 10: 63,017,229 I196N probably damaging Het
Kcnq5 T C 1: 21,403,065 K653E probably damaging Het
Lgi2 C A 5: 52,562,160 D100Y probably damaging Het
Mettl15 T A 2: 109,131,571 H231L probably benign Het
Mthfd1l A G 10: 4,106,536 probably benign Het
Pik3cg A G 12: 32,192,121 S997P probably benign Het
Pla2g1b T C 5: 115,472,114 C105R probably damaging Het
Ppil1 A T 17: 29,252,244 probably benign Het
Rbbp8 A G 18: 11,721,719 T334A probably benign Het
Slc15a4 T C 5: 127,601,941 Y445C probably damaging Het
Sox14 A C 9: 99,875,662 I8S probably damaging Het
Spice1 A G 16: 44,356,178 T44A probably damaging Het
Sult3a1 G T 10: 33,877,346 V213L probably benign Het
Vkorc1l1 C A 5: 129,982,307 Y111* probably null Het
Wdr47 G T 3: 108,629,773 probably benign Het
Wdr90 A G 17: 25,847,791 probably benign 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
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
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 On2016-08-02