Incidental Mutation 'IGL02725:Alpk3'
ID 305178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # IGL02725
Quality Score
Status
Chromosome 7
Chromosomal Location 81057600-81105612 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 81093610 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1058 (Q1058H)
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: Q1058H

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: Q1058H

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,474,909 (GRCm38) I414T possibly damaging Het
Agpat3 A C 10: 78,278,055 (GRCm38) D266E probably benign Het
Atat1 A T 17: 35,909,489 (GRCm38) V37E probably benign Het
Bcl6b A G 11: 70,228,518 (GRCm38) V124A probably damaging Het
Bmt2 T C 6: 13,628,496 (GRCm38) E396G probably damaging Het
Ccdc50 T C 16: 27,436,597 (GRCm38) C237R probably benign Het
Chd9 A G 8: 91,051,684 (GRCm38) I2790M possibly damaging Het
Chkb A G 15: 89,429,137 (GRCm38) L82P probably damaging Het
Cit T C 5: 115,985,473 (GRCm38) Y1458H probably benign Het
Clp1 T A 2: 84,723,864 (GRCm38) K320N probably benign Het
Cry2 T C 2: 92,413,260 (GRCm38) probably benign Het
Cyp20a1 C T 1: 60,366,706 (GRCm38) R220W probably benign Het
Cyp27a1 C T 1: 74,735,703 (GRCm38) P268S probably damaging Het
Cyp2e1 T G 7: 140,763,915 (GRCm38) I22S probably null Het
Defb34 A G 8: 19,123,758 (GRCm38) T3A unknown Het
Dpy19l3 A T 7: 35,711,918 (GRCm38) M422K probably benign Het
Eif4g3 A T 4: 138,170,471 (GRCm38) probably benign Het
Elmod3 A G 6: 72,594,775 (GRCm38) S7P probably damaging Het
Fam151a T G 4: 106,748,014 (GRCm38) S524R probably damaging Het
Gcc1 A T 6: 28,418,459 (GRCm38) V625E probably benign Het
Glmn G A 5: 107,575,289 (GRCm38) P112S possibly damaging Het
Grm5 A C 7: 88,074,665 (GRCm38) D721A probably damaging Het
Hivep3 T C 4: 120,095,822 (GRCm38) V445A possibly damaging Het
Hmcn1 T A 1: 150,604,903 (GRCm38) E4507D possibly damaging Het
Hmcn2 A C 2: 31,405,528 (GRCm38) E2583A probably damaging Het
Ifnb1 T A 4: 88,522,630 (GRCm38) I49F probably benign Het
Ints8 A C 4: 11,239,406 (GRCm38) C306W probably benign Het
Jakmip2 A G 18: 43,562,590 (GRCm38) S540P probably damaging Het
Kctd1 A G 18: 14,969,610 (GRCm38) V838A possibly damaging Het
Klk10 T C 7: 43,781,620 (GRCm38) L29P probably damaging Het
Lyst T A 13: 13,760,827 (GRCm38) I3627K probably damaging Het
Maml3 A G 3: 52,103,774 (GRCm38) S124P probably damaging Het
Nav2 A T 7: 49,565,095 (GRCm38) K1632I probably damaging Het
Olfr324 T C 11: 58,597,864 (GRCm38) V156A probably benign Het
Pde2a G T 7: 101,507,218 (GRCm38) M616I probably null Het
Pdia2 T C 17: 26,196,532 (GRCm38) D440G probably benign Het
Rab11fip5 A G 6: 85,374,489 (GRCm38) S14P probably damaging Het
Rhpn2 T C 7: 35,379,606 (GRCm38) S383P probably damaging Het
Rnf220 A G 4: 117,272,379 (GRCm38) probably benign Het
Rnf43 A G 11: 87,731,585 (GRCm38) D504G probably damaging Het
Setbp1 A T 18: 78,857,374 (GRCm38) L1026* probably null Het
Slc1a4 A T 11: 20,308,408 (GRCm38) S264T probably damaging Het
Snx19 A G 9: 30,432,260 (GRCm38) N572S possibly damaging Het
Sptan1 T C 2: 29,996,043 (GRCm38) I739T probably damaging Het
Srrm1 G A 4: 135,325,104 (GRCm38) P658L unknown Het
Stat5b A T 11: 100,805,014 (GRCm38) D47E possibly damaging Het
Taar7b A T 10: 24,000,063 (GRCm38) Y42F probably benign Het
Tfdp2 T A 9: 96,287,695 (GRCm38) I33K possibly damaging Het
Tm4sf5 A G 11: 70,510,622 (GRCm38) H149R probably benign Het
Tmco6 A G 18: 36,738,707 (GRCm38) M257V probably benign Het
Tuba8 G T 6: 121,225,957 (GRCm38) G410* probably null Het
Ubd T A 17: 37,193,962 (GRCm38) V4D probably benign Het
Ugt2b34 C T 5: 86,906,425 (GRCm38) V166I probably benign Het
Vmn2r70 C T 7: 85,565,345 (GRCm38) V200I possibly damaging Het
Wdcp A T 12: 4,851,206 (GRCm38) N354I probably damaging Het
Wipi2 A T 5: 142,666,863 (GRCm38) Y410F possibly damaging Het
Zc3hav1 G T 6: 38,332,192 (GRCm38) P565Q probably damaging Het
Zfp398 T C 6: 47,865,803 (GRCm38) V131A probably benign Het
Zkscan3 T C 13: 21,394,893 (GRCm38) D144G possibly damaging Het
Zpbp T A 11: 11,462,358 (GRCm38) probably benign Het
Other mutations in Alpk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Alpk3 APN 7 81,078,009 (GRCm38) missense possibly damaging 0.95
IGL00472:Alpk3 APN 7 81,095,653 (GRCm38) splice site probably benign
IGL01732:Alpk3 APN 7 81,057,642 (GRCm38) missense unknown
IGL01750:Alpk3 APN 7 81,092,282 (GRCm38) missense probably damaging 1.00
IGL01812:Alpk3 APN 7 81,100,202 (GRCm38) missense probably damaging 1.00
IGL02224:Alpk3 APN 7 81,076,868 (GRCm38) splice site probably benign
IGL02292:Alpk3 APN 7 81,077,905 (GRCm38) missense possibly damaging 0.46
IGL02340:Alpk3 APN 7 81,078,507 (GRCm38) missense probably benign 0.03
IGL02517:Alpk3 APN 7 81,077,895 (GRCm38) missense probably benign 0.00
IGL02755:Alpk3 APN 7 81,093,759 (GRCm38) missense possibly damaging 0.71
IGL03035:Alpk3 APN 7 81,078,604 (GRCm38) missense probably benign 0.00
IGL03102:Alpk3 APN 7 81,095,056 (GRCm38) critical splice donor site probably null
IGL03153:Alpk3 APN 7 81,093,395 (GRCm38) missense probably benign 0.00
IGL03255:Alpk3 APN 7 81,092,562 (GRCm38) missense probably benign 0.01
IGL03367:Alpk3 APN 7 81,094,990 (GRCm38) missense probably benign 0.01
FR4304:Alpk3 UTSW 7 81,077,762 (GRCm38) small insertion probably benign
FR4737:Alpk3 UTSW 7 81,077,762 (GRCm38) small insertion probably benign
IGL03097:Alpk3 UTSW 7 81,093,909 (GRCm38) missense probably benign 0.00
R0092:Alpk3 UTSW 7 81,092,553 (GRCm38) missense probably benign
R0254:Alpk3 UTSW 7 81,076,974 (GRCm38) missense probably benign 0.43
R0310:Alpk3 UTSW 7 81,078,610 (GRCm38) missense possibly damaging 0.61
R0325:Alpk3 UTSW 7 81,067,953 (GRCm38) missense possibly damaging 0.58
R0387:Alpk3 UTSW 7 81,104,227 (GRCm38) missense possibly damaging 0.93
R0971:Alpk3 UTSW 7 81,092,579 (GRCm38) missense possibly damaging 0.55
R1078:Alpk3 UTSW 7 81,078,600 (GRCm38) missense probably benign
R1146:Alpk3 UTSW 7 81,077,595 (GRCm38) missense probably damaging 0.99
R1146:Alpk3 UTSW 7 81,077,595 (GRCm38) missense probably damaging 0.99
R1168:Alpk3 UTSW 7 81,103,357 (GRCm38) missense probably damaging 1.00
R1306:Alpk3 UTSW 7 81,093,873 (GRCm38) missense probably damaging 1.00
R1822:Alpk3 UTSW 7 81,076,931 (GRCm38) nonsense probably null
R2173:Alpk3 UTSW 7 81,076,900 (GRCm38) missense probably damaging 1.00
R2350:Alpk3 UTSW 7 81,094,970 (GRCm38) missense probably damaging 1.00
R2414:Alpk3 UTSW 7 81,092,753 (GRCm38) missense probably benign 0.02
R2417:Alpk3 UTSW 7 81,092,753 (GRCm38) missense probably benign 0.02
R2885:Alpk3 UTSW 7 81,100,192 (GRCm38) missense probably damaging 1.00
R3004:Alpk3 UTSW 7 81,103,355 (GRCm38) nonsense probably null
R3796:Alpk3 UTSW 7 81,092,753 (GRCm38) missense probably benign 0.02
R3797:Alpk3 UTSW 7 81,092,753 (GRCm38) missense probably benign 0.02
R3798:Alpk3 UTSW 7 81,092,753 (GRCm38) missense probably benign 0.02
R3799:Alpk3 UTSW 7 81,092,753 (GRCm38) missense probably benign 0.02
R3894:Alpk3 UTSW 7 81,078,390 (GRCm38) missense possibly damaging 0.93
R4395:Alpk3 UTSW 7 81,094,955 (GRCm38) missense probably damaging 1.00
R4761:Alpk3 UTSW 7 81,104,168 (GRCm38) missense probably damaging 0.99
R5505:Alpk3 UTSW 7 81,078,561 (GRCm38) missense possibly damaging 0.87
R5540:Alpk3 UTSW 7 81,095,436 (GRCm38) missense probably damaging 1.00
R5770:Alpk3 UTSW 7 81,078,562 (GRCm38) missense probably benign 0.02
R5941:Alpk3 UTSW 7 81,078,653 (GRCm38) missense probably damaging 1.00
R5964:Alpk3 UTSW 7 81,092,260 (GRCm38) missense possibly damaging 0.88
R6036:Alpk3 UTSW 7 81,093,257 (GRCm38) missense probably benign 0.34
R6036:Alpk3 UTSW 7 81,093,257 (GRCm38) missense probably benign 0.34
R6066:Alpk3 UTSW 7 81,076,950 (GRCm38) missense possibly damaging 0.89
R6517:Alpk3 UTSW 7 81,078,579 (GRCm38) missense possibly damaging 0.54
R6578:Alpk3 UTSW 7 81,078,684 (GRCm38) missense probably benign 0.00
R7230:Alpk3 UTSW 7 81,093,294 (GRCm38) missense probably damaging 1.00
R7266:Alpk3 UTSW 7 81,092,580 (GRCm38) missense possibly damaging 0.55
R7271:Alpk3 UTSW 7 81,078,454 (GRCm38) missense possibly damaging 0.92
R7402:Alpk3 UTSW 7 81,076,912 (GRCm38) missense probably benign 0.29
R7411:Alpk3 UTSW 7 81,092,852 (GRCm38) missense probably benign 0.11
R7454:Alpk3 UTSW 7 81,078,562 (GRCm38) missense probably benign 0.02
R7468:Alpk3 UTSW 7 81,100,998 (GRCm38) nonsense probably null
R7940:Alpk3 UTSW 7 81,093,945 (GRCm38) missense probably damaging 1.00
R8157:Alpk3 UTSW 7 81,093,722 (GRCm38) missense probably benign 0.00
R8246:Alpk3 UTSW 7 81,092,776 (GRCm38) missense probably benign 0.00
R8357:Alpk3 UTSW 7 81,093,318 (GRCm38) missense probably damaging 1.00
R8444:Alpk3 UTSW 7 81,057,720 (GRCm38) missense probably benign 0.08
R8457:Alpk3 UTSW 7 81,093,318 (GRCm38) missense probably damaging 1.00
R8775:Alpk3 UTSW 7 81,077,850 (GRCm38) missense probably benign 0.00
R8775-TAIL:Alpk3 UTSW 7 81,077,850 (GRCm38) missense probably benign 0.00
R8794:Alpk3 UTSW 7 81,057,655 (GRCm38) missense unknown
R8982:Alpk3 UTSW 7 81,099,002 (GRCm38) missense probably damaging 1.00
R9259:Alpk3 UTSW 7 81,093,554 (GRCm38) missense probably damaging 1.00
R9343:Alpk3 UTSW 7 81,092,331 (GRCm38) missense probably benign 0.27
R9567:Alpk3 UTSW 7 81,092,939 (GRCm38) missense possibly damaging 0.55
R9792:Alpk3 UTSW 7 81,101,133 (GRCm38) critical splice donor site probably null
R9793:Alpk3 UTSW 7 81,101,133 (GRCm38) critical splice donor site probably null
R9798:Alpk3 UTSW 7 81,092,652 (GRCm38) missense probably benign 0.02
RF034:Alpk3 UTSW 7 81,092,414 (GRCm38) small deletion probably benign
RF057:Alpk3 UTSW 7 81,092,417 (GRCm38) frame shift probably null
X0022:Alpk3 UTSW 7 81,093,897 (GRCm38) missense probably damaging 0.96
Z1176:Alpk3 UTSW 7 81,078,626 (GRCm38) missense probably benign 0.00
Posted On 2015-04-16