Incidental Mutation 'R1822:Alpk3'
ID 206477
Institutional Source Beutler Lab
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
MMRRC Submission 039850-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R1822 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80707348-80755360 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 80726679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 121 (C121*)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000107348
AA Change: C121*
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: C121*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency 97% (105/108)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,847,901 (GRCm39) T798K possibly damaging Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Adsl G T 15: 80,846,943 (GRCm39) E70* probably null Het
Ahcyl2 A G 6: 29,768,583 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,493,850 (GRCm39) V310A probably benign Het
Amph T A 13: 19,132,625 (GRCm39) I8N probably damaging Het
Ano2 G A 6: 125,840,420 (GRCm39) A364T probably damaging Het
Apbb2 T C 5: 66,557,520 (GRCm39) T314A probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atf7ip A G 6: 136,564,258 (GRCm39) T834A probably benign Het
Brca2 T G 5: 150,463,663 (GRCm39) D1142E probably benign Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
Cap2 A G 13: 46,768,823 (GRCm39) S210G probably benign Het
Capn2 C A 1: 182,300,525 (GRCm39) E596D possibly damaging Het
Cdc27 A T 11: 104,413,648 (GRCm39) S358R probably benign Het
Cdhr3 C T 12: 33,095,204 (GRCm39) G622S probably null Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Crhr1 A T 11: 104,023,898 (GRCm39) M1L probably benign Het
Csmd1 T C 8: 16,273,340 (GRCm39) T831A probably damaging Het
Cwc22 T C 2: 77,755,003 (GRCm39) probably benign Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Cyp4a31 T C 4: 115,423,810 (GRCm39) probably null Het
Cytip A C 2: 58,024,158 (GRCm39) S221A probably benign Het
Dagla G A 19: 10,240,550 (GRCm39) R227C possibly damaging Het
Dhx57 A G 17: 80,560,514 (GRCm39) probably null Het
Dnah2 A T 11: 69,405,630 (GRCm39) D627E probably damaging Het
Dock8 A G 19: 25,138,422 (GRCm39) E1249G probably benign Het
Dpysl3 A G 18: 43,475,393 (GRCm39) V31A probably benign Het
Ecpas A G 4: 58,805,539 (GRCm39) probably null Het
Fan1 T C 7: 64,022,554 (GRCm39) N233S probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Glipr1 T A 10: 111,832,765 (GRCm39) M58L possibly damaging Het
Gm10509 C T 17: 21,909,765 (GRCm39) P31S possibly damaging Het
Gm5070 T C 3: 95,318,355 (GRCm39) noncoding transcript Het
Gramd1a T C 7: 30,841,998 (GRCm39) N138S probably damaging Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
Hmcn2 C T 2: 31,273,704 (GRCm39) S1352L probably damaging Het
Hoxa5 G A 6: 52,179,712 (GRCm39) T221I probably damaging Het
Hsd17b2 C A 8: 118,485,488 (GRCm39) P317Q possibly damaging Het
Ifi213 T A 1: 173,417,408 (GRCm39) S335C probably damaging Het
Izumo4 A T 10: 80,539,729 (GRCm39) D156V probably damaging Het
Khnyn A T 14: 56,123,309 (GRCm39) E21V probably damaging Het
Kmt2d C T 15: 98,759,661 (GRCm39) G1199E unknown Het
Lipk T C 19: 34,016,491 (GRCm39) W240R probably benign Het
Lpar5 A G 6: 125,058,378 (GRCm39) D33G possibly damaging Het
Lrp11 A G 10: 7,471,961 (GRCm39) D219G probably damaging Het
Lrrcc1 T C 3: 14,624,285 (GRCm39) probably benign Het
Man2a1 T C 17: 65,047,837 (GRCm39) C252R probably damaging Het
Map2k5 A G 9: 63,142,585 (GRCm39) F354L possibly damaging Het
Mlh3 T C 12: 85,312,919 (GRCm39) probably benign Het
Mmp28 A G 11: 83,335,045 (GRCm39) I331T probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Nckap1 A G 2: 80,348,242 (GRCm39) S898P possibly damaging Het
Nectin1 T A 9: 43,702,374 (GRCm39) Y40* probably null Het
Neurl1a T A 19: 47,245,898 (GRCm39) V493E probably benign Het
Ntf3 A C 6: 126,079,209 (GRCm39) I99S probably benign Het
Or10ag53 T C 2: 87,083,054 (GRCm39) S258P possibly damaging Het
Or1l4 C G 2: 37,091,992 (GRCm39) H246Q probably damaging Het
Or1p1c A G 11: 74,161,066 (GRCm39) T284A probably benign Het
Or2ak5 A T 11: 58,611,133 (GRCm39) V247E probably damaging Het
Or2i1 A G 17: 37,507,722 (GRCm39) probably benign Het
Or2y1c T A 11: 49,361,795 (GRCm39) F272L probably benign Het
Or6k8-ps1 C T 1: 173,979,780 (GRCm39) R233C probably benign Het
Otof G A 5: 30,536,054 (GRCm39) T1343I probably benign Het
Otop2 A T 11: 115,215,454 (GRCm39) Y125F probably benign Het
Pate3 G A 9: 35,557,401 (GRCm39) T85I probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Phf11d T C 14: 59,593,778 (GRCm39) H132R probably benign Het
Pik3c3 G A 18: 30,477,130 (GRCm39) probably null Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prkdc G A 16: 15,577,469 (GRCm39) D2372N probably damaging Het
Ptprq C T 10: 107,554,339 (GRCm39) E129K probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Ralgapb T A 2: 158,334,372 (GRCm39) V1027E probably damaging Het
Rita1 T C 5: 120,747,645 (GRCm39) T218A possibly damaging Het
Rrh T A 3: 129,606,282 (GRCm39) T218S probably damaging Het
Scaper C T 9: 55,767,184 (GRCm39) A416T probably damaging Het
Scn3a A G 2: 65,314,716 (GRCm39) L1115P probably damaging Het
Serpinb6e A T 13: 34,017,217 (GRCm39) S268T probably damaging Het
Skic3 C A 13: 76,278,407 (GRCm39) H574N probably benign Het
Slc1a6 G A 10: 78,648,765 (GRCm39) W495* probably null Het
Slc32a1 A G 2: 158,453,298 (GRCm39) H46R probably benign Het
Slc37a1 C T 17: 31,519,405 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,606,173 (GRCm39) W694R probably benign Het
Smarcd2 A T 11: 106,158,222 (GRCm39) D113E probably benign Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Sspo A T 6: 48,469,820 (GRCm39) Q4506L possibly damaging Het
Stam2 T A 2: 52,606,539 (GRCm39) E115D probably damaging Het
Sult1c2 A T 17: 54,280,953 (GRCm39) L50H probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Togaram1 T G 12: 65,042,409 (GRCm39) V1156G probably damaging Het
Tpp1 T C 7: 105,398,854 (GRCm39) T192A probably benign Het
Ush1c A G 7: 45,859,325 (GRCm39) L498P probably damaging Het
Vit A C 17: 78,930,265 (GRCm39) Q410P probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Zfp341 A G 2: 154,488,054 (GRCm39) E839G possibly damaging Het
Zhx3 G A 2: 160,622,275 (GRCm39) L631F probably benign Het
Zmpste24 T C 4: 120,944,513 (GRCm39) E95G possibly 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
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
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 PCR Primer
(F):5'- TACTTTCTGAAGCTGAGCTGAGTG -3'
(R):5'- TGCCCTCTAACTCCAGAGAG -3'

Sequencing Primer
(F):5'- AGTGACAGGGACAGTGCCTC -3'
(R):5'- AGAGTGCCTGGGCGTTTCC -3'
Posted On 2014-06-23